| i-ii | This Month in the Journal | JOHN ASHKENAS |
| 1265-1275 | Recent Developments in Human Behavioral Genetics: Past Accomplishments and Future Directions | Stephanie L. Sherman, John C. DeFries, Irving I. Gottesman, John C. Loehlin, Joanne M. Meyer, Mary Z. Pelias, John Rice, Irwin Waldman |
| 1276-1282 | Genetic Influences in Childhood-Onset Psychiatric Disorders: Autism and Attention-Deficit/Hyperactivity Disorder | Susan L. Smalley |
| 1283-1288 | Understanding the Genetic Basis of Mood Disorders: Where Do We Stand? | Victor I. Reus, Nelson B. Freimer |
| 1289-1302 | Genetics of Narcolepsy and Other Sleep Disorders | Emmanuel Mignot |
| 1303-1308 | To Fire the Train: A Second Malignant-Hyperthermia Gene | Kirk Hogan |
| 1309-1311 | Searching for Gene Defects That Cause High Bone Mass | Michael P. Whyte |
| 1312-1315 | The Great Escape | Christine M. Disteche |
| 1316-1325 | Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle | Nicole Monnier, Vincent Procaccio, Paul Stieglitz, Joël. Lunardi |
| 1326-1332 | Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13) | Mark L. Johnson, Guodong Gong, William Kimberling, Susan M. Recker, Donald B. Kimmel, Robert R. Recker |
| 1333-1343 | Expression of Genes from the Human Active and Inactive X Chromosomes | Carolyn J. Brown, Laura Carrel, Huntington F. Willard |
| 1344-1353 | Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa | Hauke Schumann, Nadja Hammami-Hauasli, Leena Pulkkinen, Alain Mauviel, Wolfgang Küster, Ursula Lüthi, Katsushi Owaribe, Jouni Uitto, Leena Bruckner-Tuderman |
| 1354-1362 | Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis | Sabine Schwemmle, Esther De Graaff, Heidrun Deissler, Dieter Gläser, Doris Wohrle, Ingo Kennerknecht, Walter Just, Ben A. Oostra, Walter Dorfler, Walther Vogel, Peter Steinbach |
| 1363-1372 | Functional and Structural Features of a Tandem Duplication of the Human mtDNA Promoter Region | Huiling Hao, Giovanni Manfredi, Carlos T. Moraes |
| 1373-1383 | Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria | H. Puy, J.C. Deybach, J. Lamoril, A.M. Robreau, V. Da Silva, L. Gouya, B. Grandchamp, Y. Nordmann |
| 1384-1388 | Spectrum of Mutations in the OCRL1 | Ti Lin, Bonnie M. Orrison, Ann-Marie Leahey, Sharon F. Suchy, David J. Bernard, Richard A. Lewis, Robert L. Nussbaum |
| 1389-1398 | A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly | Cheryl Maslen, Darcie Babcock, Michael Raghunath, Beat Steinmann |
| 1399-1410 | Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1 | Belén Peral, Vicki Gamble, Carol Strong, Albert C.M. Ong, Jackie Sloane-Stanley, Klaus Zerres, Christopher G. Winearls, Peter C. Harris |
| 1411-1422 | Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number | P.E. McAndrew, D.W. Parsons, L.R. Simard, C. Rochette, P.N. Ray, J.R. Mendell, T.W. Prior, A.H.M. Burghes |
| 1423-1429 | Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease | Manoj S. Nanji, T.T. Van Nguyen, Jean H. Kawasoe, Koji Inui, Fumio Endo, Takashi Nakajima, Toshiharu Anezaki, Diane W. Cox |
| 1430-1438 | Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes | S.K. Bidooki, M.A. Johnson, Z. Chrzanowska-Lightowlers, L.A. Bindoff, R.N. Lightowlers |
| 1439-1447 | Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease Chromosomes | Richard S. Ajioka, Lynn B. Jorde, Jeffrey R. Gruen, Ping Yu, Diana Dimitrova, Jalene Barrow, Evette Radisky, Corwin Q. Edwards, Linda M. Griffen, James P. Kushner |
| 1448-1460 | Haplotypes of Angiotensinogen in Essential Hypertension | Xavier Jeunemaitre, Ituro Inoue, Christopher Williams, Anne Charru, Jean Tichet, Mike Powers, Arya Mitra Sharma, Anne-Paule Gimenez-Roqueplo, Akira Hata, Pierre Corvol, Jean-Marc Lalouel |
| 1468-1473 | Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity | A.A.B. Bergen, A.J.L.G. Pinckers |
| 1474-1478 | A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13 | Donna Mackay, Alexander Ionides, Vanita Berry, Anthony Moore, Shomi Bhattacharya, Alan Shiels |
| 1479-1486 | Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14 | Tuija Lauteala, Pertti Sistonen, Marja-Liisa Savontaus, Juha Mykkänen, Jaakko Simell, Mari Lukkarinen, Olli Simell, Pertti Aula |
| 1487-1494 | Genetic Mapping Using Microcell-Mediated Chromosome Transfer Suggests a Locus for Nijmegen Breakage Syndrome at Chromosome 8q21-24 | Shinya Matsuura, Corry Weemaes, Dominique Smeets, Hideki Takami, Noriko Kondo, Shuuichi Sakamoto, Nozomi Yano, Asako Nakamura, Hiroshi Tauchi, Satoru Endo, Mitsuo Oshimura, Kenshi Komatsu |
| 1495-1501 | Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes | Rozanne B. Blok, Debra A. Gook, David R. Thorburn, Hans-Henrik M. Dahl |
| 1502-1512 | Heritability of Longitudinal Changes in Coronary-Heart-Disease Risk Factors in Women Twins | Yechiel Friedlander, Melissa A. Austin, Beth Newman, Karen Edwards, Elizabeth J. Mayer-Davis, Mary-Claire King |
| 1513-1531 | Fine-Scale Genetic Mapping Based on Linkage Disequilibrium: Theory and Applications | Momiao Xiong, Sun-Wei Guo |
| 1532-1535 | The Val985Met Insulin-Receptor Variant in the Danish Caucasian Population: Lack of Associations with Non—Insulin-Dependent Diabetes Mellitus or Insulin Resistance | Lars Hansen, Torben Hansen, Jesper O. Clausen, Søren M. Echwald, Søren A. Urhammer, Søren K. Rasmussen, Oluf Pedersen |
| 1535-1539 | Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome | BARBARA C. PATON, SARAH E. HERON, PAUL V. NELSON, C. PHILLIP MORRIS, ALFRED POULOS |
| 1539-1542 | Disease Relevance of the So-Called Secondary Leber Hereditary Optic Neuropathy Mutations | SABINE HOFMANN, REIMAR BEZOLD, MICHAELA JAKSCH, PETRA KAUFHOLD, BERT OBERMAIER-KUSSER, KLAUS-DIETER GERBITZ |
| 1542-1544 | A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X-Linked Myotubular Myopathy | C. GUIRAUD-CHAUMEIL, M.C. VINCENT, J. LAPORTE, M. FARDEAU, F. SAMSON, J.-L. MANDEL |
| 1544-1548 | Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region | HILARY O'DONNELL, CAROLE MCKEOWN, CLIVE GOULD, BERNICE MORROW, PETER SCAMBLER |
| 1548-1552 | Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon | GIOVANNI STEVANIN, ANNE-SOPHIE LEBRE, CÉCILE MATHIEUX, GÉRALDINE CANCEL, NACER ABBAS, OLIVIER DIDIERJEAN, ALEXANDRA DÜRR, YVON TROTTIER, YVES AGID, ALEXIS BRICE |
| 1552-1555 | A Common mtDNA Polymorphism Associated with Variation in Plasma Triglyceride Concentration | ROBERT A. HEGELE, BERNARD ZINMAN, ANTHONY J.G. HANLEY, STEWART HARRIS, PHILIP W. CONNELLY |
| 1555-1558 | Up-Regulation of the Brain and Purkinje-Cell Forms of Dystrophin Transcripts, in Becker Muscular Dystrophy | AKINORI NAKAMURA, SHU-ICHI IKEDA, MASAHIDE YAZAKI, KUNIHIRO YOSHIDA, OSAMU KOBAYASHI, NOBUO YANAGISAWA, SHIN'ICHI TAKEDA |
| 1558-1562 | Bilateral Retinoblastoma in a Male Patient with an X;13 Translocation: Evidence for Silencing of the RB1 Gene by the Spreading of X Inactivation | CARRIE JONES, CAROL BOOTH, DEBRA RITA, LYDIA JAZMINES, BIRGIT BRANDT, ANNA NEWLAN, BERNHARD HORSTHEMKE |
| 1562-1563 | Meiotic Drive at the Myotonic Dystrophy and the Cone-Rod Dystrophy Loci on Chromosome 19q13.3 | CHRIS F. INGLEHEARN, CHERYL Y. GREGORY |
| 1564-1565 | Mouse Genetics | Gregory S. Barsh |
| 1565-1566 | Genetic Variation and Human Disease: Principles and Evolutionary Approaches | Joseph D. Terwilliger |
| 1566-1567 | Gene Therapy: A Primer for Physicians | Karen Kozarsky |
| 1567 | Life as We Know It: A Father, a Family, and an Exceptional Child | Virginia P. Sybert |
| 1567-1568 | Chromosome Abnormalities and Genetic Counseling | Albert Schinzel |
| 1568 | Molecular Biology Made Simple and Fun | John Ashkenas |
| 1569-1570 | Announcements | |
| 1571 | Erratum | |
| 1572-1579 | Author Index for Volume 60 | |
| 1580-1588 | Subject Index for Volume 60 | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1-4 | Human Female Meiosis: New Insights into an Error-Prone Process | Dorothy Warburton |
| 5-8 | XIST | Carolyn J. Brown, Wendy P. Robinson |
| 9-15 | When Is a Deletion Not a Deletion? When It Is Converted | Arthur H.M. Burghes |
| 16-17 | Multilocus FISH Analysis | Roberta A. Pagon |
| 18 | Homologous Recombination in Human Mitochondria? | John Ashkenas |
| 19-22 | mtDNA Recombination: What Do In Vitro Data Mean? | Neil Howell |
| 23-32 | First-Meiotic-Division Nondisjunction in Human Oocytes | Roslyn Angell |
| 33-39 | XIST | R. Daniels, M. Zuccotti, T. Kinis, P. Serhal, M. Monk |
| 40-50 | Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype | Louise Campbell, Allyson Potter, Jaakko Ignatius, Victor Dubowitz, Kay Davies |
| 51-59 | Simultaneous, Multilocus FISH Analysis for Detection of Microdeletions in the Diagnostic Evaluation of Developmental Delay and Mental Retardation | Azra H. Ligon, Arthur L. Beaudet, Lisa G. Shaffer |
| 60-67 | The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 | Jonathan N. Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary E.M. Porteous, Douglas A. Marchuk |
| 68-79 | Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia | Claire L. Shovlin, J.M.B. Hughes, J. Scott, Christine E. Seidman, J.G. Seidman |
| 80-87 | Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1) | Debora Mancini, Shiva Singh, Peter Ainsworth, David Rodenhiser |
| 88-93 | Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome | Joachim Bürger, Karin Buiting, Bärbel Dittrich, Stephanie Groß, Christina Lich, Karl Sperling, Bernhard Horsthemke, André Reis |
| 94-100 | Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde | R. Munoz, G. Lestringant, V. Sybert, M. Frydman, A. Alswaini, P.M. Frossard, R. Jorgenson, J. Zonana |
| 101-110 | Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat | Eugènia Monrós, Maria Dolores Moltó, Francisco Martínez, Joaqún Canizares, Jose Blanca, Juan J. Vílchez, Felix Prieto, Rosa de Frutos, Francesc Palau |
| 111-119 | Identification of the Human Chromosomal Region Containing the Iridogoniodysgenesis Anomaly Locus by Genomic-Mismatch Scanning | Farideh Mirzayans, Alan J. Mears, Sun-Wei Guo, William G. Pearce, Michael A. Walter |
| 129-138 | Reduced Frequency of Extracolonic Cancers in Hereditary Nonpolyposis Colorectal Cancer Families with Monoallelic hMLH1 | Anne Charlotte Jäger, Marie Luise Bisgaard, Torben Myrhôj, Inge Bernstein, Jens F. Rehfeld, Finn Cilius Nielsen |
| 139-142 | Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C | W.L. Greer, D.C. Riddell, D.M. Byers, J.P. Welch, G.S. Girouard, S.M. Sparrow, T.L. Gillan, P.E. Neumann |
| 143-150 | The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103 | M. Neerman-Arbez, S.E. Antonarakis, J.-L. Blouin, S. Zeinali, M. Akhtari, Y. Afshar, E.G.D. Tuddenham |
| 151-159 | The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12 | Eloisa S. Moreira, Mariz Vainzof, Sueli K. Marie, Andrea L. Sertie, Mayana Zatz, Maria R. Passos-Bueno |
| 160-170 | Familial Skewed X Inactivation: A Molecular Trait Associated with High Spontaneous-Abortion Rate Maps to Xq28 | Elena Pegoraro, Jeanette Whitaker, Patricia Mowery-Rushton, Urvashi Surti, Mark Lanasa, Eric P. Hoffman |
| 171-181 | Evidence That the Apolipoprotein E-Genotype Effects on Lipid Levels Can Change with Age in Males: A Longitudinal Analysis | Gail P. Jarvik, Ellen L. Goode, Melissa A. Austin, Johan Auwerx, Samir Deeb, Gerard D. Schellenberg, Terry Reed |
| 182-188 | FcεR1-b Polymorphism and Total Serum IgE Levels in Endemically Parasitized Australian Aborigines | L.J. Palmer, P.D. Paré, J.A. Faux, M.F. Moffatt, S.E. Daniels, P.N. LeSouëf, P.R. Bremner, E. Mockford, M. Gracey, R. Spargo, A.W. Musk, W.O.C.M. Cookson |
| 189-199 | Testing Association between Candidate-Gene Markers and Phenotype in Related Individuals, by Use of Estimating Equations | David-Alexandre Trégouët, Pierre Ducimetiere, Laurence Tiret |
| 200-210 | A Linkage Strategy for Detection of Human Quantitative-Trait Loci. I. Generalized Relative Risk Ratios and Power of Sib Pairs with Extreme Trait Values | Chi Gu, D.C. Rao |
| 211-222 | A Linkage Strategy for Detection of Human Quantitative-Trait Loci. II. Optimization of Study Designs Based on Extreme Sib Pairs and Generalized Relative Risk Ratios | Chi Gu, D.C. Rao |
| 223-227 | Variable Age at Onset in Insulin-Dependent Diabetes Mellitus, by the Marker-Association-Segregation-χ2 Method | Noel Bonneuil, Antoine Clerget, Francoise Clerget-Darpoux |
| 228-231 | Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome | Romeo Carrozzo, Elena Rossi, Susan L. Christian, Kirk Kittikamron, Chiara Livieri, Andrea Corrias, Lucia Pucci, Alberto Fois, Laura Bosio, Paolo Simi, Luciano Beccaria, Orsetta Zuffardi, David H. Ledbetter |
| 231-233 | DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene | V.M. Pratt, C.E. Jackson, D.C. Wallace, D.S. Gurley, A. Feit, G.L. Feldman |
| 233-238 | A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family | Nathalie Ronce, Marie-Pierre Moizard, Laura Robb, Annick Toutain, Laurent Villard, Claude Moraine |
| 238-239 | Nonreplication of Linkage Disequilibrium between the Dopamine D4 Receptor Locus and Tourette Syndrome | Johannes Hebebrand, Markus M. Nöthen, Andreas Ziegler, Birgit Klug, Helge Neidt, Katja Eggermann, Gerd Lehmkuhl, Fritz Poustka, Martin H. Schmidt, Peter Propping, Helmut Remschmidt |
| 239-241 | Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci | Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, Kent Small, Robert E. Ferrell, Stephen P. Daiger |
| 241-244 | Diagnostic Testing for Prader-Willi and Angelman Syndromes: Response | Arabella Smith, Tina Buchholz, Lisa Robson |
| 244-246 | Further Comments on the Characterization of Founder Amerindian Mitochondrial Haplotypes | NÉStor O. Bianchi, Graciela Bailliet |
| 246-247 | Reply to Bianchi and Bailliet | Peter Forster, Rosalind Harding, Antonio Torroni, Hans JÜRgen Bandelt |
| 247-251 | Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool | L.L. Cavalli-Sforza, E. Minch |
| 251-254 | Reply to Cavalli-Sforza and Minch | Martin Richards, Vincent Macaulay, Bryan Sykes, Robert Hedges, Peter Forster, Paul Pettitt, Hans-JÜRgen Bandelt |
| 254-255 | Nonparametric Linkage Tests Are Model Free | Leonid Kruglyak |
| 256-258 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 259-266 | The Regulation of Splice-Site Selection, and Its Role in Human Disease | Thomas A. Cooper, William Mattox |
| 267-272 | The Final Stage of Gene Expression: Chaperones and the Regulation of Protein Fate | John Ashkenas, Peter H. Byers |
| 273-278 | Embryonic Lethal Abnormal Visual RNA-Binding Proteins Involved in Growth, Differentiation, and Posttranscriptional Gene Expression | Dragana Antic, Jack D. Keene |
| 279-281 | Predictive Testing for Retinoblastoma Comes of Age | Brenda L. Gallie |
| 282-294 | Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma | Dietmar R. Lohmann, Martin Gerick, Birgit Brandt, Ulrich Oelschläger, Birgit Lorenz, Eberhard Passarge, Bernhard Horsthemke |
| 295-303 | Coding Mutations in p57KIP2 | Denise O'Keefe, Diem Dao, Long Zhao, Rhonda Sanderson, Dorothy Warburton, Lawrence Weiss, Kwame Anyane-Yeboa, Benjamin Tycko |
| 304-309 | Low Frequency of p57KIP2 Mutation in Beckwith-Wiedemann Syndrome | Maxwell P. Lee, Michael DeBaun, Gurvaneet Randhawa, Betty A. Reichard, Stephen J. Elledge, Andrew P. Feinberg |
| 310-316 | Spectrum of Mutations in the Batten Disease Gene, CLN3 | Patricia B. Munroe, Hannah M. Mitchison, Angela M. O'Rawe, John W. Anderson, Rose-Mary Boustany, Terry J. Lerner, Peter E.M. Taschner, Nanneke de Vos, Martijn H. Breuning, R. Mark Gardiner, Sara E. Mole |
| 317-328 | Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B | Anjali B. Shah, Igor Chernov, Hong Tao Zhang, Barbara M. Ross, Kamna Das, Svetlana Lutsenko, Enrico Parano, Lorenzo Pavone, Oleg Evgrafov, Irina A. Ivanova-Smolenskaya, Göran Annerén, Kerstin Westermark, Francisco Hevia Urrutia, Graciela K. Penchaszadeh, Irmin Sternlieb, I. Herbert Scheinberg, T. Conrad Gilliam, Konstantin Petrukhin |
| 329-335 | Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations | Juul Wijnen, P. Meera Khan, Hans Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen-Cornelisse, Bert Bakker, Monique Losekoot, Pål Møller, Riccardo Fodde |
| 336-346 | Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1 | K. Ishikawa, H. Tanaka, M. Saito, N. Ohkoshi, T. Fujita, K. Yoshizawa, T. Ikeuchi, M. Watanabe, A. Hayashi, Y. Takiyama, M. Nishizawa, I. Nakano, K. Matsubayashi, M. Miwa, S. Shoji, I. Kanazawa, S. Tsuji, H. Mizusawa |
| 347-353 | Linkage Analysis of 49 High-Risk Families Does Not Support a Common Familial Prostate Cancer—Susceptibility Gene at 1q24-25 | Richard A. McIndoe, Janet L. Stanford, Mark Gibbs, Gail P. Jarvik, Susan Brandzel, Cassandra L. Neal, Sarah Li, Jason T. Gammack, Allen A. Gay, Ellen L. Goode, Leroy Hood, Elaine A. Ostrander |
| 354-362 | Evidence for a Familial Pregnancy-Induced Hypertension Locus in the eNOS-Gene Region | Reynir Arngrímsson, Caroline Hayward, Sophie Nadaud, Asdis Baldursdóttir, James J. Walker, Wang A. Liston, Ragnheiür I. Bjarnadóttir, David J.H. Brock, Reynir T. Geirsson, J. Michael Connor, Florent Soubrier |
| 363-369 | Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21 | Wim Van Hul, Jens Bollerslev, Jeppe Gram, Els Van Hul, Wim Wuyts, Olivier Benichou, Filip Vanhoenacker, Patrick J. Willems |
| 370-378 | Localization of the Gene Causing Keratolytic Winter Erythema to Chromosome 8p22-p23, and Evidence for a Founder Effect in South African Afrikaans-Speakers | Michelle Starfield, Hans Christian Hennies, Martin Jung, Trefor Jenkins, Thomas Wienker, Peter Hull, Amanda Spurdle, Wolfgang Küster, Michele Ramsay, André Reis |
| 379-387 | Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia | James M. Fink, William B. Dobyns, Renzo Guerrini, Betsy A. Hirsch |
| 388-394 | Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi Syndrome | Jeffrey M. Conroy, Theresa A. Grebe, Laurie A. Becker, Karen Tsuchiya, Robert D. Nicholls, Karin Buiting, Bernhard Horsthemke, Suzanne B. Cassidy, Stuart Schwartz |
| 395-401 | A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus | Giovanni B. Ferrero, Marinella Gebbia, Giuseppe Pilia, David Witte, Andrea Peier, Robert J. Hopkin, William J. Craigen, Lisa G. Shaffer, David Schlessinger, Andrea Ballabio, Brett Casey |
| 402-417 | The Apo(a) Gene is the Major Determinant of Variation in Plasma Lp(a) Levels in African Americans | Vincent Mooser, Douglas Scheer, Santica M. Marcovina, Jinping Wang, Rudy Guerra, Jonathan Cohen, Helen H. Hobbs |
| 418-422 | Analysis of Genetic Linkage and Somatic Loss of Heterozygosity in Affected Pairs of First-Degree Relatives | K. Rohde, M.D. Teare, M. Santibáñez Koref |
| 423-429 | Accurate Inference of Relationships in Sib-Pair Linkage Studies | Michael Boehnke, Nancy J. Cox |
| 430-438 | True and False Positive Peaks in Genomewide Scans: Applications of Length-Biased Sampling to Linkage Mapping | Joseph D. Terwilliger, William D. Shannon, G. Mark Lathrop, John P. Nolan, Lynn R. Goldin, Gary A. Chase, Daniel E. Weeks |
| 439-448 | Tests for Linkage and Association in Nuclear Families | E.R. Martin, N.L. Kaplan, B.S. Weir |
| 449-452 | Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome | LUCY R. OSBORNE, SYLVIA SODER, XIAO-MEI SHI, BARBARA POBER, TERESA COSTA, STEPHEN W. SCHERER, LAP-CHEE TSUI |
| 452-454 | Further Evidence Suggesting the Presence of a Locus, on Human Chromosome 5q31-q33, Influencing the Intensity of Infection with Schistosoma mansoni | Bertram Müller-Myhsok, FOEKJE F. STELMA, FATOU GUISSé-SOW, BIRGIT MUNTAU, THORSTEN THYE, GERD D. BURCHARD, BRUNO GRYSEELS, ROLF D. HORSTMANN |
| 454-457 | Multiple Sclerosis in Sardinia Is Associated and in Linkage Disequilibrium with HLA-DR3 and -DR4 Alleles | MARIA GIOVANNA MARROSU, MARIA RITA MURRU, GIANNA COSTA, FRANCESCO CUCCA, STEFANO SOTGIU, GIULIO ROSATI, FRANCESCO MUNTONI |
| 458-461 | Nonrandom X-Chromosome Inactivation in Hemopoietic Cells from Carriers of Dyskeratosis Congenita | ANNA MARIA FERRARIS, GIAN LUCA FORNI, ROSA MANGERINI, GIAN FRANCO GAETANI |
| 461-462 | Is There an Abnormal Phenotype Associated with Maternal Isodisomy for Chromosome 2 in the Presence of Two Isochromosomes? | LISA G. SHAFFER, CHRISTOPHER MCCASKILL, CATHERINE A. EGLI, JOHN C. BAKER, KATHREEN M. JOHNSTON |
| 462-466 | Evidence for a Possible Asian Origin of YAP+ Y Chromosomes | TASHA K. ALTHEIDE, MICHAEL F. HAMMER |
| 466-467 | Genetic Counseling Is Directive? Look Again | SEYMOUR KESSLER |
| 468 | Cancer Cytogenetics | Janet D. Rowley |
| 469-470 | Announcements | |
| 471 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 473-474 | Bells and Whistles | Peter H. Byers |
| 475-480 | Semper Fidelis: What Man's Best Friend Can Teach Us about Human Biology and Disease | Elaine A. Ostrander, Edward Giniger |
| 481-488 | Of Monkeys and Men: Vervets and the Genetics of Human-Like Behaviors | Roberta M. Palmour, John Mulligan, J. Jeffry Howbert, Frank Ervin |
| 489-493 | Baboons as an Animal Model for Genetic Studies of Common Human Disease | Jeffrey Rogers, James E. Hixson |
| 494-496 | HLA and Mate Selection in Humans: Commentary | Gary K. Beauchamp, Kunio Yamazaki |
| 497-504 | HLA and Mate Choice in Humans | Carole Ober, Lowell R. Weitkamp, Nancy Cox, Harvey Dytch, Donna Kostyu, Sherman Elias |
| 505-511 | HLA and Mate Selection: No Evidence in South Amerindians | Philip W. Hedrick, Francis L. Black |
| 512-519 | Confirmation of a Double-Hit Model for the NF1 | Eduard Serra, Susana Puig, David Otero, Antonia Gaona, Helena Kruyer, Elisabet Ars, Xavier Estivill, Conxi Lázaro |
| 520-528 | Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses | Christophe Philippe, Daniel E. Porter, Mark E. Emerton, Dan E. Wells, A. Hamish, R.W. Simpson, Anthony P. Monaco |
| 529-538 | Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population | Elina Laiho, Jaakko Ignatius, Hanna Mikkola, Vivien C. Yee, David C. Teller, Kirsti-Maria Niemi, Ulpu Saarialho-Kere, Juha Kere, Aarno Palotie |
| 539-546 | Autosomal Recessive Phosphorylase Kinase Deficiency in Liver, Caused by Mutations in the Gene Encoding the β Subunit (PHKB | Inge E.T. van den Berg, Ellen A.C.M. van Beurden, Johannis B.C. de Klerk, Otto P. van Diggelen, Helga E.M. Malingré, Marijke M. Boer, Ruud Berger |
| 547-555 | A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2) | B. Veldhuisen, J.J. Saris, S. de Haij, T. Hayashi, D.M. Reynolds, T. Mochizuki, R. Elles, R. Fossdal, N. Bogdanova, M. A. van Dijk, E. Coto, D. Ravine, S. Nôrby, C. Verellen-Dumoulin, M.H. Breuning, S. Somlo, D.J.M. Peters |
| 556-570 | Deletion of RB | Rod Bremner, Daisy Chan Du, Mary J. Connolly-Wilson, Peter Bridge, K. Farid Ahmad, Homa Mostachfi, Dianne Rushlow, James M. Dunn, Brenda L. Gallie |
| 571-580 | Analysis of the RPGR | Ricardo Fujita, Monika Buraczynska, Linn Gieser, Weiping Wu, Patricia Forsythe, Magnus Abrahamson, Samuel G. Jacobson, Paul A. Sieving, Sten Andréasson, Anand Swaroop |
| 581-589 | The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope | Akemi Ishida-Yamamoto, John A. McGrath, HaMut Lam, Hajime Iizuka, Richard A. Friedman, Angela M. Christiano |
| 590-598 | Characterization of Two Mutations Associated with Epimerase-Deficiency Galactosemia, by Use of a Yeast Expression System for Human UDP-Galactose-4-Epimerase | B.B. Quimby, A. Alano, S. Almashanu, A.M. DeSandro, T.M. Cowan, J.L. Fridovich-Keil |
| 599-610 | Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation | Alain Hovnanian, Ariane Rochat, Christine Bodemer, Elisabeth Petit, Caroline A. Rivers, Catherine Prost, Sylvie Fraitag, Angela M. Christiano, Jouni Uitto, MarkLathrop, Yann Barrandon, Yves de Prost |
| 611-619 | Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa | Leena Pulkkinen, Florencia Bullrich, Paula Czarnecki, Lester Weiss, Jouni Uitto |
| 620-629 | Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients | C. Carlson, H. Sirotkin, R. Pandita, R. Goldberg, J. McKie, R. Wadey, S.R. Patanjali, S.M. Weissman, K. Anyane-Yeboa, D. Warburton, P. Scambler, R. Shprintzen, R. Kucherlapati, B.E. Morrow |
| 630-633 | Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2 | Sandra S. Strautnieks, Amir F. Kagalwalla, M. Stuart Tanner, A.S. Knisely, Laura Bull, Nelson Freimer, Sam A. Kocoshis, R. Mark Gardiner, Richard J. Thompson |
| 634-641 | A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map | N. Carolyn Schanen, E. Jill Roth Dahle, Fiorentino Capozzoli, Vanja A. Holm, Huda Y. Zoghbi, Uta Francke |
| 642-650 | Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome | Stuart K. Shapira, Christopher McCaskill, Hope Northrup, Aimee S. Spikes, F.F.B. Elder, V. Reid Sutton, Julie R. Korenberg, Frank Greenberg, Lisa G. Shaffer |
| 651-659 | Meiotic Segregation, Recombination, and Gamete Aneuploidy Assessed in a t(1;10)(p22.1;q22.3) Reciprocal Translocation Carrier by Three- and Four-Probe Multicolor FISH in Sperm | Paul Van Hummelen, David Manchester, Xiu Lowe, Andrew J. Wyrobek |
| 660-667 | Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey | Bert B.A. de Vries, Ans M.W. van den Ouweland, Serieta Mohkamsing, Hugo J. Duivenvoorden, Esther Mol, Kirsten Gelsema, Monique van Rijn, Dicky J.J. Halley, Lodewijk A. Sandkuijl, Ben A. Oostra, Aad Tibben, Martinus F. Niermeijer and Collaborative Fragile X Study Group |
| 668-677 | Recessive Inheritance of Obesity in Familial Non—Insulin-Dependent Diabetes Mellitus, and Lack of Linkage to Nine Candidate Genes | Sandra J. Hasstedt, Michael Hoffman, Mark F. Leppert, Steven C. Elbein |
| 678-690 | Interactions between Genetic and Reproductive Factors in Breast Cancer Risk in a French Family Sample | N. Andrieu, F. Demenais |
| 691-704 | Mitochondrial Footprints of Human Expansions in Africa | Elizabeth Watson, Peter Forster, Martin Richards, Hans-Jürgen Bandelt |
| 705-718 | Multilocus Genotypes, a Tree of Individuals, and Human Evolutionary History | Joanna L. Mountain, L. Luca Cavalli-Sforza |
| 719-733 | Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci | Rosaria Scozzari, Fulvio Cruciani, Patrizia Malaspina, Piero Santolamazza, Bianca Maria Ciminelli, Antonio Torroni, David Modiano, Douglas C. Wallace, Kenneth K. Kidd, Antonel Olckers, Pedro Moral, Luciano Terrenato, Nejat Akar, Raheel Qamar, Atika Mansoor, Syed Q. Mehdi, Gianfranco Meloni, Giuseppe Vona, David E.C. Cole, Wangwei Cai, et al. | |
| 734-747 | Association Mapping of Disease Loci, by Use of a Pooled DNA Genomic Screen | Lisa F. Barcellos, William Klitz, L. Leigh Field, Rose Tobias, Anne M. Bowcock, Ross Wilson, Mark P. Nelson, Jane Nagatomi, Glenys Thomson |
| 748-760 | Markov Chain Monte Carlo Segregation and Linkage Analysis for Oligogenic Models | Simon C. Heath |
| 761-762 | Common BRCA1 Variants and Transcriptional Activation | ALVARO N.A. MONTEIRO, AVERY AUGUST, HIDESABURO HANAFUSA |
| 762-764 | The Significance of the 187G (H63D) Mutation in Hemochromatosis | ERNEST BEUTLER, AVERY AUGUST |
| 765-768 | Autosomal Dominant Axenfeld-Rieger Anomaly Maps to 6p25 | DOUGLAS B. GOULD, WILLIAM G. PEARCE, MICHAEL A. WALTER |
| 768-771 | The Genetic Clock and the Age of the Founder Effect in Growing Populations: A Lesson from French Canadians and Ashkenazim | DAMIAN LABUDA, EWA ZIE TKIEWICZ, MALstrok;GORZATA LABUDA |
| 771-774 | Approximate Variance of the Standardized Measure of Gametic Disequilibrium D′ | CARLOS ZAPATA, GONZALO ALVAREZ, CARMEN CAROLLO |
| 774-778 | Transmission/Disequilibrium Tests for Multiallelic Loci | PAK SHAM |
| 778 | Reply to Sham | NORMAN L. KAPLAN, E.R. MARTIN, B.S. WEIR |
| 778-779 | Family Cell Lines Available for Research—An Endangered Resource? | ÅKE LERNMARK, GEORGE EISENBARTH, LEE DUCAT, HENRY A. ERLICH, DENISE FAUSTMAN, NOEL K. MACLAREN, JURG OTT, M. ALAN PERMUTT, JIN-XIONG SHE, JOHN TODD |
| 780-781 | Principles and Practice of Medical Genetics | Cynthia Curry |
| 781 | Optimizing Genetics Services in a Social, Ethical, and Policy Context: Suggestions from Consumers and Providers in the New England Regional Genetics Group (NERGG) | Pat Schnatterly |
| 782-783 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 785-789 | The Promise and Reality of Cancer Gene Therapy | Simon J. Hall, Shu-Hsia Chen, Savio L.C. Woo |
| 790-794 | Message Therapy: Gene Therapy That Targets mRNA Sequence and Stability | Karen F. Kozarsky, Larry A. Couture |
| 795-800 | Cell-Cycle Regulation of Mammalian DNA Double-Strand-Break Repair | Eric A. Hendrickson |
| 801-805 | Unconventional Myosins, the Basis for Deafness in Mouse and Man | Tama Hasson |
| 806-809 | Fetal Cells in Maternal Circulation: Progress in Analysis of a Rare Event | James D. Goldberg |
| 810-812 | What Is Significant in Whole-Genome Linkage Disequilibrium Studies | Leonid Kruglyak |
| 813-821 | Mutation Profile of All 49 Exons of the Human Myosin VIIA Gene, and Haplotype Analysis, in Usher 1B Families from Diverse Origins | A. Adato, D. Weil, H. Kalinski, Y. Pel-Or, H. Ayadi, C. Petit, M. Korostishevsky, B. Bonne-Tamir |
| 822-829 | PCR Quantitation of Fetal Cells in Maternal Blood in Normal and Aneuploid Pregnancies | Diana W. Bianchi, John M. Williams, Lisa M. Sullivan, Frederick W. Hanson, Katherine W. Klinger, Anthony P. Shuber |
| 830-842 | Genome Scanning for Segments Shared Identical by Descent among Distant Relatives in Isolated Populations | L. Kathryn Durham, Eleanor Feingold |
| 843-851 | Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene | Julian R. Sampson, Magitha M. Maheshwar, Richard Aspinwall, Peter Thompson, Jeremy P. Cheadle, David Ravine, Sushmita Roy, Eric Haan, Jay Bernstein, Peter C. Harris |
| 852-861 | Identification of Genetic Mutations in Japanese Patients with Fructose-1, 6-Bisphosphatase Deficiency | Yoshiharu Kikawa, Manabu Inuzuka, Byun Young Jin, Satomi Kaji, Jun-ichi Koga, Yoshiki Yamamoto, Kazuro Fujisawa, Ikue Hata, Akio Nakai, Yosuke Shigematsu, Hideo Mizunuma, Akira Taketo, Mitsufumi Mayumi, Masakatsu Sudo |
| 862-867 | The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies | Patrizia D'Adamo, Lucia Fassone, Agi Gedeon, Emiel A.M. Janssen, Silvia Bione, Pieter A. Bolhuis, Peter G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew J. Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo |
| 868-872 | Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome | Steven B. Bleyl, Brian R. Mumford, Victor Thompson, John C. Carey, Theodore J. Pysher, Thomas K. Chin, Kenneth Ward |
| 873-881 | Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2 | Marshall Horwitz, Kathleen F. Benson, Feng-Qian Li, John Wolff, Mark F. Leppert, Lynne Hobson, Marie Mangelsdorf, Sui Yu, Duncan Hewett, Robert I. Richards, Wendy H. Raskind |
| 882-888 | Familial Glaucoma Iridogoniodysplasia Maps to a 6p25 Region Implicated in Primary Congenital Glaucoma and Iridogoniodysgenesis Anomaly | Tim Jordan, Neil Ebenezer, Ruth Manners, James McGill, Shomi Bhattacharya |
| 889-898 | Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16 | Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G. Mark Lathrop, Anthony P. Monaco |
| 899-908 | Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 | Justin P. Rubio, Adrian Danek, Caroline Stone, Richard Chalmers, Nicholas Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian M. Fabrizi, Michela Manfredi, Jefferey Vance, Margaret Pericak-Vance, Robert Brown, Gabrielle Rudolf, Fabienne Picard, Elisa Alonso, Mitchell Brin, Andrea H. Németh, Martin Farrall, Anthony P. Monaco |
| 909-917 | Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23 | David N. Messina, Marcy C. Speer, Margaret A. Pericak-Vance, Elizabeth M. McNally |
| 918-923 | The Gene for Autosomal Dominant Craniometaphyseal Dysplasia Maps to Chromosome 5p and Is Distinct from the Growth Hormone-Receptor Gene | Peter Nürnberg, Sigrid Tinschert, Michal Mrug, Jochen Hampe, Clemens R. Müller, Eike Fuhrmann, Hans-Steffen Braun, André Reis |
| 924-927 | A Novel Locus for Autosomal Dominant Nonsyndromic Hearing Loss, DFNA13, Maps to Chromosome 6p | M.R. Brown, M.S. Tomek, L. Van Laer, S. Smith, J.B. Kenyon, G. Van Camp, R.J.H. Smith |
| 928-933 | Hereditary Geniospasm: Linkage to Chromosome 9q13-q21 and Evidence for Genetic Heterogeneity | P.R. Jarman, N.W. Wood, M.T. Davis, P.V. Davis, K.P. Bhatia, C.D. Marsden, M.B. Davis |
| 934-939 | A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome | Jacqueline J.M. Assink, Nel T. Tijmes, Jacoline B. ten Brink, Roelof-Jan Oostra, Frans C. Riemslag, Paulus T.V.M. de Jong, Arthur A.B. Bergen |
| 940-944 | Evidence for at Least Eight Fanconi Anemia Genes | Hans Joenje, Anneke B. Oostra, Mario Wijker, Franca M. di Summa, Carola G.M. van Berkel, Martin A. Rooimans, Wolfram Ebell, Margreet van Weel, Jan C. Pronk, Manuel Buchwald, Fré Arwert |
| 945-952 | Risk Reversals in Predictive Testing for Huntington Disease | Elisabeth Almqvist, Shelin Adam, Maurice Bloch, Anne Fuller, Philip Welch, Debbie Eisenberg, Don Whelan, David Macgregor, Wendy Meschino, Michael R. Hayden |
| 953-960 | The Fate of Human Sperm-Derived mtDNA in Somatic Cells | Giovanni Manfredi, Dominic Thyagarajan, Lefkothea C. Papadopoulou, Francesco Pallotti, Eric A. Schon |
| 961-967 | Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression | Karen Grønskov, Helle Hjalgrim, Mia O. Bjerager, Karen Brøndum-Nielsen |
| 968-979 | Evidence for a Major Gene Controlling Susceptibility to Tegumentary Leishmaniasis in a Recently Exposed Bolivian Population | A. Alcaïs, L Abel, C. David, M.E. Torrez, P. Flandre, J.P. Dedet |
| 980-983 | The Myth of Bumpy Hunter-Gatherer Mismatch Distributions | Hans-Jürgen Bandelt, Forster Peter |
| 983 | Reply to Bandelt and Forster | Gunter Weiss, Arndt Von Haeseler, Svante Pääbo |
| 983-986 | mtDNA Mutation Rates-No Need to Panic | Vincent A. Macaulay, Martin B. Richards, Peter Forster, Kate E. Bendall, Elizabeth Watson, Bryan Sykes, Hans-Jürgen Bandelt |
| 986-990 | Reply to Macauley et al. | Neil Howell, David Mackey |
| 986-990 | Reply to Macauley et al. | NEIL HOWELL, DAVID MACKEY |
| 991-993 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 995-999 | Loss of Heterozygosity or: How I Learned to Stop Worrying and Love Mitotic Recombination | Jay A. Tischfield |
| 1000-1005 | “Mistakes Happen”: Somatic Mutation and Disease | Feng Qian, Gregory G. Germino |
| 1006-1010 | Understanding Human Cancer in a Fly? | Maie A.R. St. John, Tian Xu |
| 1011-1014 | DNA Variation and Language Affinities | Guido Barbujani |
| 1015-1035 | Human Genetic Affinities for Y-Chromosome P49a,f/Taq | E.S. Poloni, O. Semino, G. Passarino, A.S. Santachiara-Benerecetti, I. Dupanloup, A. Langaney, L. Excoffier |
| 1036-1043 | The Role of MMAC1 | Hui C. Tsou, David H.-F. Teng, Xiao Li Ping, Valeria Brancolini, Thaylon Davis, Rong Hu, Xiao Xun Xie, Alexandra C. Gruener, Carolina A. Schrager, Angela M. Christiano, Charis Eng, Peter Steck, Jurg Ott, Sean V. Tavtigian, Monica Peacocke |
| 1044-1052 | Mutation Detection in the Repeated Part of the PKD1 Gene | Jeroen H. Roelfsema, Lia Spruit, Jasper J. Saris, Peter Chang, Yves Pirson, Gert-Jan B. van Ommen, Dorien J.M. Peters, Martijn H. Breuning |
| 1053-1058 | Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome | Jennifer Johnston, Richard I. Kelley, Annette Feigenbaum, Gerald F. Cox, Geeta S. Iyer, Vicky L. Funanage, Roy Proujansky |
| 1059-1066 | Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele | T.L. McGee, M. Devoto, J. Ott, E.L. Berson, T.P. Dryja |
| 1067-1077 | Molecular Analysis of the Androgen-Receptor Gene in a Family with Receptor-Positive Partial Androgen Insensitivity: An Unusual Type of Intronic Mutation | H.T. Brüggenwirth, A.L.M. Boehmer, S. Ramnarain, M.C.T. Verleun-Mooijman, D.P.E. Satijn, J. Trapman, J.A. Grootegoed, A.O. Brinkmann |
| 1078-1087 | Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene | Qing Yue, Joanna C. Jen, Stanley F. Nelson, Robert W. Baloh |
| 1088-1094 | Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome | Senator Hazelwood, Vorasuk Shotelersuk, Scott C. Wildenberg, David Chen, Fumino Iwata, Muriel I. Kaiser-Kupfer, James G. White, Richard A. King, William A. Gahl |
| 1095-1101 | Rufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 | P. Manga, J.G.R. Kromberg, N.F. Box, R.A. Sturm, T. Jenkins, M. Ramsay |
| 1102-1111 | De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling | Brunhilde Wirth, Thorsten Schmidt, Eric Hahnen, Sabine Rudnik-Schöneborn, Michael Krawczak, Bertram Müller-Myhsok, Jutta Schönling, Klaus Zerres |
| 1112-1116 | Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search | P. Gasparini, E. Miraglia del Giudice, J. Delaunay, A. Totaro, M. Granatiero, S. Melchionda, L. Zelante, A. Iolascon |
| 1117-1122 | Genetic Linkage of Paget Disease of the Bone to Chromosome 18q | J.D. Cody, F.R. Singer, G.D. Roodman, B. Otterund, T.B. Lewis, M. Leppert, R.J. Leach |
| 1123-1130 | Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer | Graham R. Bignell, Federico Canzian, Maryam Shayeghi, Markus Stark, Yin Y. Shugart, Patrick Biggs, Jonathan Mangion, Rifat Hamoudi, Jacalyn Rosenblatt, Paul Buu, Sophie Sun, Sheldon S. Stoffer, David E. Goldgar, Giovanni Romeo, Richard S. Houlston, Steven A. Narod, Michael R. Stratton, William D. Foulkes |
| 1131-1138 | Familial Multiple-System Tauopathy with Presenile Dementia Is Localized to Chromosome 17 | J.R. Murrell, D. Koller, T. Foroud, M. Goedert, M.G. Spillantini, H.J. Edenberg, M.R. Farlow, B. Ghetti |
| 1139-1143 | A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter | Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar Shohat, Nathan Fischel-Ghodsian, Jerome I. Rotter, Lutfi Jaber |
| 1144-1152 | D4 Dopamine-Receptor (DRD4) Alleles and Novelty Seeking in Substance-Dependent, Personality-Disorder, and Control Subjects | J. Gelernter, H. Kranzler, E. Coccaro, L. Siever, A. New, C.L. Mulgrew |
| 1153-1162 | d | Yasuyuki Suzuki, Ling Ling Jiang, Masayoshi Souri, Shoko Miyazawa, Seiji Fukuda, Zhongyi Zhang, Mizuho Une, Nobuyuki Shimozawa, Naomi Kondo, Tadao Orii, Takashi Hashimoto |
| 1163-1168 | Laboratory Policies and Practices for the Genetic Testing of Children: A Survey of the Helix Network | Dorothy C. Wertz, Philip R. Reilly |
| 1169-1178 | Effect of Genetic Heterogeneity and Assortative Mating on Linkage Analysis: A Simulation Study | Catherine T. Falk |
| 1179-1188 | Allele-Sharing Models: LOD Scores and Accurate Linkage Tests | Augustine Kong, Nancy J. Cox |
| 1189-1199 | Detection of Gene-Environment Interactions in Joint Segregation and Linkage Analysis | W. James Gauderman, Cheryl L. Faucett |
| 1200-1202 | CFTR Gene Mutations in Men with Bilateral Ejaculatory-Duct Obstruction and Anomalies of the Seminal Vesicles | Dieter Meschede, Bernd Dworniczak, Hermann M. Behre, Sabine Kliesch, Mireille Claustres, Eberhard Nieschlag, Jürgen Horst |
| 1202-1204 | Mutations in the TIGR | Yasuyuki Suzuki, Shiroaki Shirato, Fumiko Taniguchi, Kunitoshi Ohara, Kiyomi Nishimaki, Shigeo Ohta |
| 1204-1205 | Childhood Cancer and Neural Tube Defects | Julian Little |
| 1205 | Reply to Little | Steven Narod |
| 1205-1209 | Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities | Jesus Sainz, Berge A. Minassian, Jose M. Serratosa, Manyee N. Gee, Lise M. Sakamoto, Reza Iranmanesh, Saeed Bohlega, Robert J. Baumann, Steve Ryan, Robert S. Sparkes, Antonio V. Delgado-Escueta |
| 1210-1212 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1213-1219 | Genomic Imprinting: A Chromatin Connection | Robert Feil, Gavin Kelsey |
| 1220-1224 | Dynamic Interrelationships between DNA Replication, Methylation, and Repair | Keith D. Robertson, Peter A. Jones |
| 1225-1233 | Centromere DNA Dynamics: Latent Centromeres and Neocentromere Formation | K.H. Andy Choo |
| 1234-1238 | PTEN: Sometimes Taking It Off Can Be Better than Putting It On | Michael P. Myers, Nicholas K. Tonks |
| 1239-1245 | Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient | Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst, Paul Savelkoul, Wim Ruitenbeek, Lambert van den Heuvel, Cesare Indiveri, Jan Smeitink, Frans Trijbels, Ronald Wanders, Ferdinando Palmieri |
| 1246-1253 | Mutations of the Fanconi Anemia Group A Gene (FAA | Maria Savino, Leonarda Ianzano, Pierluigi Strippoli, Ugo Ramenghi, Araxy Arslanian, Gian Paolo Bagnara, Hans Joenje, Leopoldo Zelante, Anna Savoia |
| 1254-1260 | Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis | Eric D. Lynch, Elizabeth A. Ostermeyer, Ming K. Lee, J. Fernando Arena, HanLee Ji, Jamie Dann, Karen Swisshelm, David Suchard, Patrick M. MacLeod, Stener Kvinnsland, Bjorn Tore Gjertsen, Ketil Heimdal, Herb Lubs, Pål Møller, Mary-Claire King |
| 1261-1267 | Novel Alleles of the Chemokine-Receptor Gene CCR5 | Mary Carrington, Teri Kissner, Bernard Gerrard, Sergey Ivanov, Stephen J. O'Brien, Michael Dean |
| 1268-1275 | Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy | Kohji Nishida, Yoichi Honma, Atsuyoshi Dota, Satoshi Kawasaki, Wakako Adachi, Takahiro Nakamura, Andrew J. Quantock, Hisashi Hosotani, Shuji Yamamoto, Masaki Okada, Yoshikazu Shimomura, Shigeru Kinoshita |
| 1276-1286 | Splicing Defects in the COL3A1 | Ulrike Schwarze, Jayne A. Goldstein, Peter H. Byers |
| 1287-1292 | Spectrum of Mutations in the RPGR | Monika Buraczynska, Weiping Wu, Ricardo Fujita, Kinga Buraczynska, Ellen Phelps, Sten Andréasson, Jean Bennett, David G. Birch, Gerald A. Fishman, Dennis R. Hoffman, George Inana, Samuel G. Jacobson, Maria A. Musarella, Paul A. Sieving, Anand Swaroop |
| 1293-1302 | Molecular Analysis of the NF2 | Lee B. Jacoby, Deborah Jones, Kevin Davis, David Kronn, M. Priscilla Short, James Gusella, Mia MacCollin |
| 1303-1308 | Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots | Kate E. Bendall, Vincent A. Macaulay, Bryan C. Sykes |
| 1309-1317 | Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations | Emre Kayaalp, Eileen Treacy, Paula J. Waters, Susan Byck, Piotr Nowacki, Charles R. Scriver |
| 1318-1326 | Mutations in PDX1, | Bernard Aral, Chantal Benelli, Ghania Ait-Ghezala, Mohamed Amessou, Françoise Fouque, Catherine Maunoury, Nicole Créau, Pierre Kamoun, Cécile Marsac |
| 1327-1334 | Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4 | Hamid Mehenni, Jean-Louis Blouin, Uppala Radhakrishna, Shiv Shanker Bhardwaj, Kamla Bhardwaj, V.B. Dixit, Kent F. Richards, Ambrosio Bermejo-Fenoll, Antonio Silva Leal, Ranjan C. Raval, Stylianos E. Antonarakis |
| 1335-1341 | Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping | Ellis J. Neufeld, Hanna Mandel, Tal Raz, Raymonde Szargel, Chandri N. Yandava, Amy Stagg, Sabine Fauré, Timothy Barrett, Neil Buist and, Nadine Cohen |
| 1342-1352 | Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations | C.E. Browne, N.R. Dennis, E. Maher, F.L. Long, J.C. Nicholson, J. Sillibourne, J.C.K. Barber |
| 1353-1361 | Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism | Aster W. Lau, Carolyn J. Brown, Maria Peñaherrera, Sylvie Langlois, Dagmar K. Kalousek, Wendy P. Robinson |
| 1362-1369 | Fragile X Premutations Are Not a Major Cause of Early Menopause | Aileen Kenneson, Daniel W. Cramer, Stephen T. Warren |
| 1370-1378 | Genetic Segregation Analysis of Early-Onset Recurrent Unipolar Depression | Mary L. Marazita, Katherine Neiswanger, Margaret Cooper, George S. Zubenko, Donna E. Giles, Ellen Frank, David J. Kupfer, Barry B. Kaplan |
| 1379-1387 | Genomewide Scan of Multiple Sclerosis in Finnish Multiplex Families | Satu Kuokkanen, Michele Gschwend, John D. Rioux, Mark J. Daly, Joseph D. Terwilliger, Pentti J. Tienari, Juhani Wikström, Jorma Palo, Lincoln D. Stein, Thomas J. Hudson, Eric S. Lander, Leena Peltonen |
| 1388-1396 | Use of a Quantitative Trait to Map a Locus Associated with Severity of Positive Symptoms in Familial Schizophrenia to Chromosome 6p | L.M. Brzustowicz, W.G. Honer, E.W.C. Chow, J. Hogan, K. Hodgkinson, A.S. Bassett |
| 1397-1404 | Linkage of Bipolar Affective Disorder to Chromosome 18 Markers in a New Pedigree Series | Francis J. McMahon, Penelope J. Hopkins, Jianfeng Xu, Melvin G. McInnis, Sarah Shaw, Lon Cardon, Sylvia G. Simpson, Dean F. MacKinnon, O. Colin Stine, Robin Sherrington, Deborah A. Meyers, J. Raymond DePaulo |
| 1405-1412 | Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus | Timothy D. Howard, Alan E. Guttmacher, Wendy McKinnon, Mridula Sharma, Victor A. McKusick, Ethylin Wang Jabs |
| 1413-1423 | Diversity and Age of the Four Major mtDNA Haplogroups, and Their Implications for the Peopling of the New World | Sandro L. Bonatto, Francisco M. Salzano |
| 1424-1430 | Genomewide Transmission/Disequilibrium Testing—Consideration of the Genotypic Relative Risks at Disease Loci | Nicola J. Camp |
| 1431-1444 | Comparison of Nonparametric Statistics for Detection of Linkage in Nuclear Families: Single-Marker Evaluation | Sean Davis, Daniel E. Weeks |
| 1445-1448 | Instability of the (CTG)n | Lee-Jun C. Wong, Tetsuo Ashizawa |
| 1448-1450 | Homogeneity of Kerato-Epithelin Codon 124 Mutations in Japanese Patients with Either of Two Types of Corneal Stromal Dystrophy | Yukihiko Mashima, Yutaka Imamura, Minako Konishi, Akemi Nagasawa, Masakazu Yamada, Yoshihisa Oguchi, Jun Kudoh, Nobuyoshi Shimizu |
| 1450-1454 | Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia-Susceptibility Locus at 5q21-23.1 | Robin L. Bennett, Maria Karayiorgou, Christina A. Sobin, Tom H. Norwood, Mark A. Kay |
| 1454-1456 | Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements | Beatrice Schmucker, Michael Krawczak |
| 1456-1458 | Goosecoid | Antonella Pragliola, Vesna Jurecic, Cuc K. Chau, Nicole Philip, Antonio Baldini |
| 1458-1459 | Reply to Pragliola et al. | S. Gottlieb, B.S. Emanuel, M.L. Budarf |
| 1459-1460 | The Frequency of the Methylenetetrahydrofolate Reductase–Gene Mutation Varies with Age in the Normal Population | Sachio Matsushita, Taro Muramatsu, Hiroyuki Arai, Toshifumi Matsui, Susumu Higuchi |
| 1461-1462 | Pharmacogenetics | Daniel W. Nebert |
| 1462-1463 | Oxford Medical Databases | J.M. Friedman |
| 1464-1467 | Announcements | |
| 1468 | Erratum | |
| 1468 | Erratum | |
| 1468 | Erratum | |
| 1469-1473 | Editorial Reviewers for 1997 | |
| 1474-1481 | Author Index for Volume 61 | |
| 1482-1489 | Subject Index for Volume 61 | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1-5 | HLA and Pregnancy: The Paradox of the Fetal Allograft | Carole Ober |
| 6-9 | Genetic Heterogeneity of Mannose-Binding Proteins: The Jekyll and Hyde of Innate Immunity? | R. Alan B. Ezekowitz |
| 10-14 | Drosophila | Mitchell S. Dushay, Elizabeth D. Eldon |
| 15-19 | Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics | Nathan Fischel-Ghodsian |
| 20-24 | Paraoxonase-Gene Polymorphisms Associated with Coronary Heart Disease: Support for the Oxidative Damage Hypothesis? | Jay W. Heinecke, Aldons J. Lusis |
| 25-26 | One Fewer Worry for Survivors of Childhood Cancer | J.M. Friedman |
| 27-35 | Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides | Xavier Estivill, Nancy Govea, Anna Barceló, Enric Perelló, Cèlia Badenas, Enrique Romero, Luis Moral, Rosaria Scozzari, Leila D'Urbano, Massimo Zeviani, Antonio Torroni |
| 36-44 | DNA Polymorphisms in Two Paraoxonase Genes (PON1 and PON2) Are Associated with the Risk of Coronary Heart Disease | Dharambir K. Sanghera, Christopher E. Aston, Nilmani Saha, M. Ilyas Kamboh |
| 45-52 | Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer | Julianne Byrne, Sonja A. Rasmussen, Sandra C. Steinhorn, Roger R. Connelly, Max H. Myers, Charles F. Lynch, John Flannery, Donald F. Austin, Frederick F. Holmes, Grace E. Holmes, Louise C. Strong, John J. Mulvihill |
| 53-63 | Genotype-Phenotype Correspondence in Sanfilippo Syndrome Type B | Hong G. Zhao, Elena L. Aronovich, Chester B. Whitley |
| 64-69 | NAGLU | Artur Schmidtchen, David Greenberg, Hong G. Zhao, Hong Hua Li, Yan Huang, Phuong Tieu, Hui-Zhi Zhao, Samson Cheng, Zhaoyang Zhao, Chester B. Whitley, Paola Di Natale, Elizabeth F. Neufeld |
| 70-76 | A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease | Carolyn Tysoe, Joanne Whittaker, John Xuereb, Nigel J. Cairns, Marc Cruts, Christine Van Broeckhoven, Gordon Wilcock, David C. Rubinsztein |
| 77-85 | Molecular Analysis of Mutations in the CSB | Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann |
| 86-97 | Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations | Milhan Telatar, Sharon Teraoka, Zhijun Wang, Helen H. Chun, Teresa Liang, Sergi Castellvi-Bel, Nitin Udar, Anne-Lise Borresen-Dale, Luciana Chessa, Eva Bernatowska-Matuszkiewicz, Oscar Porras, Mitsunori Watanabe, Anne Junker, Patrick Concannon, Richard A. Gatti |
| 98-110 | Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations | Jarmo Körkkö, Leena Ala-Kokko, Anne De Paepe, Lieve Nuytinck, James Earley, Darwin J. Prockop |
| 111-121 | The GAA Triplet-Repeat Expansion in Friedreich Ataxia Interferes with Transcription and May Be Associated with an Unusual DNA Structure | Sanjay I. Bidichandani, Tetsuo Ashizawa, Pragna I. Patel |
| 122-129 | Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11.4 and Definition of a Locus Distinct from RP2 and RP3 | Albert B. Seymour, Anita Dash-Modi, Jeffrey R. O'Connell, Maria Shaffer-Gordon, Tammy S. Mah, S. Tonya Stefko, Ramaiah Nagaraja, Jeremiah Brown, Alan E. Kimura, Robert E. Ferrell, Michael B. Gorin |
| 130-135 | Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19 | Janis R. O'Quinn, Raoul C.M. Hennekam, Lynn B. Jorde, Michael Bamshad |
| 136-144 | The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p | Lanying Li, Dennis Drayna, Diana Hu, Anthony Hayward, Shiela Gahagan, Henry Pabst, Morton J. Cowan |
| 145-158 | Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2 | Giovanni Parmigiani, Donald A. Berry, Omar Aguilar |
| 159-170 | Linkage Disequilibrium and Gene Mapping: An Empirical Least-Squares Approach | Laura C. Lazzeroni |
| 171-180 | Incorporating Genotypes of Relatives into a Test of Linkage Disequilibrium | Laurent Excoffier, Montgomery Slatkin |
| 181-188 | A Test Statistic to Detect Errors in Sib-Pair Relationships | Margaret Gelder Ehm, Michael Wagner |
| 189-192 | A De Novo Mutation (Gln2Stop) at the 5′ End of the SRY Gene Leads to Sex Reversal with Partial Ovarian Function | Stephen Brown, C.C. Yu, Patricia Lanzano, Debra Heller, L. Thomas, Dorothy Warburton, Jan Kitajewski, Laurel Stadtmauer |
| 192-195 | Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS | Annette M. Payne, Susan M. Downes, David A.R. Bessant, Alan C. Bird, Shomi S. Bhattacharya |
| 195-196 | Cystic Fibrosis Transmembrane-Conductance Regulator Mutations among African Americans | K.J. Friedman, M.W. Leigh, P. Czarnecki, G.L. Feldman |
| 196-202 | mtDNA Mutations That Cause Optic Neuropathy: How Do We Know? | Neil Howell, Christy Bogolin, Robyn Jamieson, Daniel R. Marenda, David A. Mackey |
| 202-204 | Power, Mode of Inheritance, and Type I Error in Lod Scores and Affecteds-Only Methods: Reply to Kruglyak | David A. Greenberg, Susan E. Hodge, Veronica J. Vieland, M. Anne Spence |
| 204-205 | Efficient Strategies for Genome Scanning with Affected Sib Pairs | David Curtis |
| 205-207 | Reply to Curtis | Peter Holmans, Nick Craddock |
| 208 | The Shape of Life: Genes, Development, and the Evolution of Animal Form | Walter Cressler |
| 209-210 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 211-214 | Comparative Genetics of Resistance to Viruses | David G. Brownstein |
| 215-220 | Variability in Immune Response to Pathogens: Using Measles Vaccine to Probe Immunogenetic Determinants of Response | Gregory A. Poland |
| 221-223 | Instant Recognition: The Genetics of Pitch Perception | Peter K. Gregersen |
| 224-231 | Absolute Pitch: An Approach for Identification of Genetic and Nongenetic Components | Siamak Baharloo, Paul A. Johnston, Susan K. Service, Jane Gitschier, Nelson B. Freimer |
| 232-244 | Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1 | J.H.D. Bassett, S.A. Forbes, A.A.J. Pannett, S.E. Lloyd, P.T. Christie, C. Wooding, B. Harding, G.M. Besser, C.R. Edwards, J.P. Monson, J. Sampson, J.A.H. Wass, M.H. Wheeler, R.V. Thakker |
| 245-252 | The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia | Yoshiro Koda, Mikiko Soejima, Naofumi Yoshioka, Hiroshi Kimura |
| 253-261 | Topoisomerase I and II Consensus Sequences in a 17-kb Deletion Junction of the COL4A5 | Yasuyoshi Ueki, Ichiro Naito, Toshitaka Oohashi, Manabu Sugimoto, Tsugio Seki, Hidekatsu Yoshioka, Yoshikazu Sado, Hiroshi Sato, Takashi Sawai, Fumiaki Sasaki, Mitsumasa Matsuoka, Seiji Fukuda, Yoshifumi Ninomiya |
| 262-268 | Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit | Lambert van den Heuvel, Wim Ruitenbeek, Roel Smeets, Zully Gelman-Kohan, Orly Elpeleg, Jan Loeffen, Frans Trijbels, Edwin Mariman, Diederik de Bruijn, Jan Smeitink |
| 269-277 | Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors | Sven Hoffmeyer, Peter Nürnberg, Heide Ritter, Raimund Fahsold, Werner Leistner, Dieter Kaufmann, Winfrid Krone |
| 278-285 | The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat | Peter Steinbach, Dieter Gläser, Walther Vogel, Michael Wolf, Sabine Schwemmle |
| 286-294 | Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients | Kit-Sing Au, Joseph A. Rodriguez, Jennifer L. Finch, Kelly A. Volcik, E. Steve Roach, Mauricio R. Delgado, Estanislado Rodriguez Jr., Hope Northrup |
| 295-300 | HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q | Grant A. Mitchell, Pinar T. Ozand, Marie-France Robert, Lyudmila Ashmarina, Jacqueline Roberts, K. Michael Gibson, Ronald J. Wanders, Shupei Wang, Isabelle Chevalier, E. Plöchl, Henry Miziorko |
| 301-310 | Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families | Laurent Cavalier, Karim Ouahchi, Herbert J. Kayden, Stephano Di Donato, Laurence Reutenauer, Jean-Louis Mandel, Michel Koenig |
| 311-319 | Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum | Michael D. Briggs, Geert R. Mortier, William G. Cole, Lily M. King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie Biesecker, Mark Lipson, William R. Wilcox, Ralph S. Lachman, David L. Rimoin, Robert G. Knowlton, Daniel H. Cohn |
| 320-324 | Mutation Hot Spots in 5q31-Linked Corneal Dystrophies | E. Korvatska, F.L. Munier, A. Djemaï, M.X. Wang, B. Frueh, A.G.-Y. Chiou, S. Uffer, E. Ballestrazzi, R.E. Braunstein, R.K. Forster, W.W. Culbertson, H. Boman, L. Zografos, D.F. Schorderet |
| 325-333 | Mutations in CYP1B1, | Bassem A. Bejjani, Richard Alan Lewis, Karim F. Tomey, Kent L. Anderson, David K. Dueker, Monzer Jabak, William F. Astle, Brith Otterud, Mark Leppert, James R. Lupski |
| 334-345 | ATM | T. Stankovic, A.M.J. Kidd, A. Sutcliffe, G.M. McGuire, P. Robinson, P. Weber, T. Bedenham, A.R. Bradwell, D.F. Easton, G.G. Lennox, N. Haites, P.J. Byrd, A.M.R. Taylor |
| 346-354 | Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses | Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann-Josef Lüdecke, Bekir Sitki Sayli, Ugo E. Pazzaglia, Geert Mortier, Ben Hamel, Ernest U. Conrad, Mark Matsushita, Wendy H. Raskind, Patrick J. Willems |
| 355-361 | Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p | Theresa M.H. Brennan, Daniel Landau, Hana Shalev, Fred Lamb, Brian C. Schutte, Roxanne Y. Walder, Allyn L. Mark, Rivka Carmi, Val C. Sheffield |
| 362-372 | Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13 | Petra Pekkarinen, Iiris Hovatta, Panu Hakola, Osmo Järvi, Marjo Kestilä, Ulla Lenkkeri, Rolf Adolfsson, Gösta Holmgren, Per-Olof Nylander, Lisbeth Tranebjærg, Joseph D. Terwilliger, Jouko Lönnqvist, Leena Peltonen |
| 373-385 | Susceptibility to Relapsing-Progressive Multiple Sclerosis Is Associated with Inheritance of Genes Linked to the Variable Region of the TcR β | Michael K. Hockertz, Donald W. Paty, Steven S. Beall |
| 386-390 | A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22 | Markus M. Nöthen, Sven Cichon, Ina R. Vogt, Susanne Hemmer, Roland Kruse, Michael Knapp, Tobias Höller, Muhammad Faiyaz ul Haque, Sayedul Haque, Peter Propping, Mahmud Ahmad, Marcella Rietschel |
| 391-399 | Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21 | Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G. Dikkers, Henk Obee, Robert J. Stokroos, Peter Hildering, Filip Vanhoenacker, Guy Van Camp, Patrick J. Willems |
| 400-405 | The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23 | Borhane Annabi, Brian C. Mansfield, Hisayuki Hiraiwa, Ke-Jian Lei, Tsuneyuki Ubagai, Mihael H. Polymeropoulos, Shimon W. Moses, Ruti Parvari, Eli Hershkovitz, Hanna Mandel, Moshe Fryman, Janice Yang Chou |
| 406-419 | Candidate-Gene Studies of the Atherogenic Lipoprotein Phenotype: A Sib-Pair Linkage Analysis of DZ Women Twins | Melissa A. Austin, Philippa J. Talmud, Le-Ahn Luong, Lema Haddad, Ian N.M. Day, Beth Newman, Karen L. Edwards, Ronald M. Krauss, Steve E. Humphries |
| 420-434 | Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms | Giuseppe Passarino, Ornella Semino, Lluís Quintana-Murci, Laurent Excoffier, Michael Hammer, A. Silvana Santachiara-Benerecetti |
| 435-449 | Mitochondrial Control-Region Sequence Variation in Aboriginal Australians | Sheila M. van Holst Pellekaan, Marianne Frommer, John A. Sved, Barry Boettcher |
| 450-458 | A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test | Richard S. Spielman, Warren J. Ewens |
| 459-473 | Likelihood Analysis of Disequilibrium Mapping, and Related Problems | Bruce Rannala, Montgomery Slatkin |
| 474-483 | Professional Disclosure of Familial Genetic Information | The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure |
| 484 | The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population | Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Antonio Cao, Mario Pirastu |
| 484-485 | Reply to Loudianos et al. | Manoj S. Nanji, Diane W. Cox |
| 485-486 | Reply to Burghes | Alex E. MacKenzie |
| 486-488 | Reply to Mackenzie | Arthur Burghes |
| 488-491 | Evidence for Paleolithic and Neolithic Gene Flow in Europe | Guido Barbujani, Giorgio Bertorelle, Lounès Chikhi |
| 491-492 | Reply to Barbujani et al. | Martin Richards, Bryan Sykes |
| 492-495 | Reply to Hofmann et al. | David Mackey, Roelof-Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, Joanna Poulton, Tim Barratt, Pieter Bolhuis, Søren Nørby, Marja-Liisa Savontaus, Christopher Chan, Neil Howell |
| 495-498 | Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype | Shoshanna Gottlieb, Deborah A. Driscoll, Hope H. Punnett, Beatrice Sellinger, Beverly S. Emanuel, Marcia L. Budarf |
| 499 | Announcement | |
| 500 | Erratum | |
| 501 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 503-508 | Mechanisms of Cell Death in the Inherited Retinal Degenerations | Gabriel H. Travis |
| 509-513 | CAS, | Ulrich Brinkmann |
| 514-519 | Molecular Prophets of Death in the Fly | Antony Rodriguez, Po Chen, John M. Abrams |
| 520-525 | INVITED EDITORIAL The Genetics of Cataract: Our Vision Becomes Clearer | J. Fielding Hejtmancik |
| 526-532 | A Missense Mutation in the Human Connexin50 Gene (GJA8 | Alan Shiels, Donna Mackay, Alexander Ionides, Vanita Berry, Anthony Moore, Shomi Bhattacharya |
| 533-541 | A Human Homologue of the Drosophila melanogaster diaphanous | Silvia Bione, Cinzia Sala, Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo |
| 542-550 | Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A | Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean-Jacques Cassiman, Jaak Jaeken |
| 551-561 | Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants | Shlomit Gilad, Luciana Chessa, Rami Khosravi, Pamela Russell, Yaron Galanty, Maria Piane, Richard A. Gatti, Timothy J. Jorgensen, Yosef Shiloh, Anat Bar-Shira |
| 562-572 | Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata | Aurora Daniele, Giancarlo Parenti, Marilena d'Addio, Generoso Andria, Andrea Ballabio, Germana Meroni |
| 573-584 | Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1 | Ivaylo Stoilov, A. Nurten Akarsu, Ihuoma Alozie, Anne Child, Magda Barsoum-Homsy, M. Erol Turacli, Meral Or, Richard A. Lewis, Nusret Ozdemir, Glen Brice, S. Gulderen Aktan, Line Chevrette, Miguel Coca-Prados, Mansoor Sarfarazi |
| 585-592 | Splice-Site Mutations: A Novel Genetic Mechanism of Crigler-Najjar Syndrome Type 1 | Shailaja Gantla, Conny T.M. Bakker, Bishram Deocharan, Narsing R. Thummala, Jeffry Zweiner, Maarten Sinaasappel, Jayanta Roy Chowdhury, Piter J. Bosma, Namita Roy Chowdhury |
| 593-598 | Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS | Jangsuk Oh, Lingling Ho, Sirpa Ala-Mello, Dominick Amato, Linda Armstrong, Sylvia Bellucci, Gerson Carakushansky, Julia P. Ellis, Chin-To Fong, Jane S. Green, Elise Heon, Eric Legius, Alex V. Levin, H. Karel Nieuwenhuis, A. Pinckers, Naoaki Tamura, Margo L. Whiteford, Hisato Yamasaki, Richard A. Spritz |
| 599-609 | Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation | Bernadette M. Manning, Kathleen A. Quane, Helle Ording, Albert Urwyler, Vincenzo Tegazzin, Mary Lehane, John O'Halloran, Edmund Hartung, Linda M. Giblin, Patrick J. Lynch, Pat Vaughan, Kathrin Censier, Diana Bendixen, Giacomo Comi, Luc Heytens, Koen Monsieurs, Tore Fagerlund, Werner Wolz, James J.A. Heffron, Clemens R. Muller, et al. | |
| 610-619 | Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling | Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E. Schalkoff, Joanne Sutherland, Brenda L. Gallie, Thaddeus P. Dryja |
| 620-626 | Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31 | Henna Haravuori, Päivi Mäkelä-Bengs, Bjarne Udd, Juhani Partanen, Leena Pulkkinen, Hannu Somer, Leena Peltonen |
| 627-632 | Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28 | Florence Kyndt, Jean-Jacques Schott, Jean-Noël Trochu, Florence Baranger, Odile Herbert, Valérie Scott, Edith Fressinaud, Albert David, Jean-Paul Moisan, Jean-Brieuc Bouhour, Hervé Le Marec, Bernard Bénichou |
| 633-640 | Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34 | Phillip F. Chance, Bruce A. Rabin, Stephen G. Ryan, Yuan Ding, Mena Scavina, Barbara Crain, John W. Griffin, David R. Cornblath |
| 641-652 | Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region | Mansoor Sarfarazi, Anne Child, Diliana Stoilova, Glen Brice, Trushna Desai, Ovidiu C. Trifan, Darmalingum Poinoosawmy, R. Pitts Crick |
| 653-658 | Linkage Analysis of Chromosome 1q Markers in 136 Prostate Cancer Families | Rosalind A. Eeles, Francine Durocher, Steve Edwards, Dawn Teare, Mike Badzioch, Rifat Hamoudi, Sandra Gill, Patrick Biggs, David Dearnaley, Audrey Ardern-Jones, Anna Dowe, Robert Shearer, Dawn L. McLennan, Richard L. Norman, Parviz Ghadirian, Armen Aprikian, Deborah Ford, Chris Amos, Terri M. King The Cancer Research Campaign/British Prostate Group U.K. Familial Prostate Cancer Study Collaborators, Fernand Labrie, et al. | |
| 659-668 | Autosomal Genomic Scan for Loci Linked to Obesity and Energy Metabolism in Pima Indians | R.A. Norman, P.A. Tataranni, R. Pratley, D.B. Thompson, R.L. Hanson, M. Prochazka, L. Baier, M.G. Ehm, H. Sakul, T. Foroud, W.T. Garvey, D. Burns, W.C. Knowler, P.H. Bennett, C. Bogardus, E. Ravussin |
| 669-675 | Genome Search in Celiac Disease | Luigi Greco, Gino Corazza, Marie-Claude Babron, Fabienne Clot, Marie-Claude Fulchignoni-Lataud, Selvaggia Percopo, Patrizia Zavattari, Faouzi Bouguerra, Colette Dib, Roberto Tosi, Riccardo Troncone, Alessandro Ventura, Wilma Mantavoni, Giuseppe Magazzù, Rosanna Gatti, Rosanna Lazzari, Annamaria Giunta, Francesco Perri, Giuseppe Iacono, Ettore Cardi, et al. | |
| 676-689 | Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families | D. Ford, D.F. Easton, M. Stratton, S. Narod, D. Goldgar, P. Devilee, D.T. Bishop, B. Weber, G. Lenoir, J. Chang-Claude, H. Sobol, M.D. Teare, J. Struewing, A. Arason, S. Scherneck, J. Peto, T.R. Rebbeck, P. Tonin, S. Neuhausen, R. Barkardottir, et al. | |
| 690-697 | Significance Levels in Complex Inheritance | Newton E. Morton |
| 698-702 | On the Probabilities of Identity States in Permutable Populations | C. Cannings |
| 703-712 | Marker Selection for the Transmission/Disequilibrium Test, in Recently Admixed Populations | N.L. Kaplan, E.R. Martin, R.W. Morris, B.S. Weir |
| 713-715 | A BRCA1 | Sylvie Mazoyer, Nadine Puget, Laure Perrin-Vidoz, Henry T. Lynch, Olga M. Serova-Sinilnikova, Gilbert M. Lenoir |
| 715-717 | Mutations of the RET-GDNF | Jeanne Amiel, Rémi Salomon, Tania Attié, Anna Pelet, Ha Trang, Mustapha Mokhtari, Claude Gaultier, Arnold Munnich, Stanislas Lyonnet |
| 717-719 | De Novo mtDNA nt 8993 (T→G) Mutation Resulting in Leigh Syndrome | Satoru Takahashi, Yoshio Makita, Junichi Oki, Akie Miyamoto, Junichi Yanagawa, Etsuo Naito, Yu-ichi Goto, Akimasa Okuno |
| 719-722 | A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA | Shuji Yamamoto, Masaki Okada, Motokazu Tsujikawa, Yoshikazu Shimomura, Kohji Nishida, Yoshitsugu Inoue, Hitoshi Watanabe, Naoyuki Maeda, Hiroki Kurahashi, Shigeru Kinoshita, Yusuke Nakamura, Yasuo Tano |
| 723-727 | A Causative Relationship between Mutant IFNgR1 | Frédéric Altare, Emmanuelle Jouanguy, Salma Lamhamedi-Cherradi, Marie-Claude Fondanèche, Cécile Fizame, Florence Ribiérre, Gilles Merlin, Zlatko Dembic, Robert Schreiber, Barbara Lisowska-Grospierre, Alain Fischer, Eric Seboun, Jean-Laurent Casanova |
| 728-729 | On the Probability of Identity States in Permutable Populations: Reply to Cannings | Emmanuelle Génin, Hadi Quesneville, Françoise Clerget-Darpoux |
| 730-733 | Consanguinity and Relative-Pair Methods for Linkage Analysis | Daniel E. Weeks, Janet S. Sinsheimer |
| 731-736 | Reply to Weeks and Sinsheimer | Emmanuelle Génin, Françoise Clerget-Darpoux |
| 736-737 | Health, Life, and Disability Insurance and Hereditary Nonpolyposis Colorectal Cancer | Miguel A. Rodriguez-Bigas, Hans F.A. Vasen, Linda O'Malley, Mary-Jo T. Rosenblatt, Carolyn Farrell, Thomas K. Weber, Nicholas J. Petrelli |
| 738-739 | Likelihood Calculation Conditional on Observed Pedigree Structure | P. Mahinda Karunaratne, Robert C. Elston |
| i-ii | This Month in the Journal | John Ashkenas Editorial Fellow |
| 745-751 | The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics | Anne Chomyn |
| 752-757 | Is the Bottleneck Cracked? | J. Poulton, V. Macaulay, D.R. Marchington |
| 758-762 | Mitochondrial Dysfunction in Idiopathic Parkinson Disease | W. Davis Parker Jr., Russell H. Swerdlow |
| 763-764 | Fetal DNA in Maternal Plasma: The Plot Thickens and the Placental Barrier Thins | Diana W. Bianchi |
| 765-767 | Are We Ready to Try to Cure Alkaptonuria? | Bert N. La Du Jr. |
| 768-775 | Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis | Y. M. Dennis Lo, Mark S.C. Tein, Tze K. Lau, Christopher J. Haines, Tse N. Leung, Priscilla M.K. Poon, James S. Wainscoat, Philip J. Johnson, Allan M.Z. Chang, N. Magnus Hjelm |
| 776-784 | Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients | D. Beltrán-Valero de Bernabé, B. Granadino, I. Chiarelli, B. Porfirio, E. Mayatepek, R. Aquaron, M.M. Moore, J.J.M. Festen, R. Sanmartí, M.A. Peñalva, S. Rodríguez de Córdoba |
| 785-791 | Mutations in the Liver Glycogen Phosphorylase Gene (PYGL | Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz, Shimon W. Moses, Yoon S. Shin, Manfred W. Kilimann |
| 792-799 | Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss | P.M. Kelley, D.J. Harris, B.C. Comer, J.W. Askew, T. Fowler, S.D. Smith, W.J. Kimberling |
| 800-809 | OA1 | Rhonda E. Schnur, Mei Gao, Penelope A. Wick, Margaret Keller, Paul J. Benke, Matthew J. Edwards, Arthur W. Grix, Athel Hockey, Jack H. Jung, Kenneth K. Kidd, Mildred Kistenmacher, Alex V. Levin, Richard A. Lewis, Maria A. Musarella, Rod W. Nowakowski, Seth J. Orlow, Roberta S. Pagon, De-Ann M. Pillers, Hope H. Punnett, Graham E. Quinn, et al. | |
| 810-815 | Evidence That Lymphangiomyomatosis Is Caused by TSC2 | Teresa A. Smolarek, Lisa L. Wessner, Francis X. McCormack, Johanna C. Mylet, Anil G. Menon, Elizabeth Petri Henske |
| 816-823 | Marshall Syndrome Associated with a Splicing Defect at the COL11A1 | Andrew J. Griffith, Leslie K. Sprunger, D. Alexa Sirko-Osadsa, George E. Tiller, Miriam H. Meisler, Matthew L. Warman |
| 824-833 | Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database | C. Jeanpierre, E. Denamur, I. Henry, M.-O. Cabanis, S. Luce, A. Cécille, J. Elion, M. Peuchmaur, C. Loirat, P. Niaudet, M.-C. Gubler, C. Junien |
| 834-841 | A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 | Elisabet Ars, Helena Kruyer, Antonia Gaona, Pilar Casquero, Jordi Rosell, Víctor Volpini, Eduard Serra, Conxi Lázaro, Xavier Estivill |
| 842-847 | A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset | Maria D. Lalioti, Hamish S. Scott, Pierre Genton, Djamel Grid, Réda Ouazzani, Amel M'Rabet, Sadi Ibrahim, Riadh Gouider, Charlotte Dravet, Taieb Chkili, Armand Bottani, Catherine Buresi, Alain Malafosse, Stylianos E. Antonarakis |
| 848-854 | Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis | Bruce D. Gelb, Judith P. Willner, Teresa M. Dunn, Nataline B. Kardon, Alain Verloes, Jacques Poncin, Robert J. Desnick |
| 855-864 | DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model | Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Joseph M. Gertner, Georgeanna J. Klingensmith, Steven N. Levine, Jon Nakamoto, Maria I. New, Roberta A. Pagon, John G. Pappas, Charmian A. Quigley, et al. | |
| 865-875 | Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness | Kym M. Boycott, William G. Pearce, Maria A. Musarella, Richard G. Weleber, Tracy A. Maybaum, David G. Birch, Yozo Miyake, Rockefeller S.L. Young, N. Torben Bech-Hansen |
| 876-883 | Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21 | Thomas C. Hart, Debora Pallos, Donald W. Bowden, Joey Bolyard, Mark J. Pettenati, Jose R. Cortelli |
| 884-889 | Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 | John Mulley, Kathrin Saar, Gerry Hewitt, Franz Rüschendorf, Hilary Phillips, Alison Colley, David Sillence, André Reis, Meredith Wilson |
| 890-903 | Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region | Sarah Monk, Anavaj Sakuntabhai, Simon A. Carter, Steven D. Bryce, Roger Cox, Louise Harrington, Elaine Levy, Victor L. Ruiz-Perez, Eleni Katsantoni, Ahmer Kodvawala, Colin S. Munro, Susan Burge, Marc Larrègue, Gyula Nagy, Jonathan L. Rees, Mark Lathrop, Anthony P. Monaco, Tom Strachan, Alain Hovnanian |
| 904-915 | Genetic Mapping Refines DFNB3 | Yong Liang, Aihui Wang, Frank J. Probst, I. Nyoman Arhya, Thomas D. Barber, Ken-Shiung Chen, Dilip Deshmukh, David F. Dolan, John T. Hinnant, Lynn E. Carter, Pawan K. Jain, Anil K. Lalwani, Xiaoyan C. Li, James R. Lupski, Sukarti Moeljopawiro, Robert Morell, Clelia Negrini, Edward R. Wilcox, Sunaryana Winata, Sally A. Camper, et al. | |
| 916-924 | No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended Pedigrees | James A. Knowles, Peter A. Rao, Tara Cox-Matise, Jo Ellen Loth, Gracielle M. de Jesus, Laura Levine, Kamna Das, Graciela K. Penchaszadeh, Joyce R. Alexander, Bernard Lerer, Jean Endicott, Jurg Ott, T. Conrad Gilliam, Miron Baron |
| 925-936 | Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15 | A.E. Wandstrat, J. Leana-Cox, L. Jenkins, S. Schwartz |
| 937-940 | Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite | Jacques C. Giltay, Tibor Brunt, Frits A. Beemer, Jan-Maarten Wit, Hans Kristian Ploos van Amstel, Peter L. Pearson, Cisca Wijmenga |
| 941-949 | Using Neural Networks as an Aid in the Determination of Disease Status: Comparison of Clinical Diagnosis to Neural-Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystrophy | Catherine T. Falk, James M. Gilchrist, Margaret A. Pericak-Vance, Marcy C. Speer |
| 950-961 | Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test | Michael Boehnke, Carl D. Langefeld |
| 962-968 | The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships | Grier P. Page, Christopher I. Amos, Eric Boerwinkle |
| 969-978 | A Log-Linear Approach to Case-Parent–Triad Data: Assessing Effects of Disease Genes That Act Either Directly or through Maternal Effects and That May Be Subject to Parental Imprinting | C.R. Weinberg, A.J. Wilcox, R.T. Lie |
| 979-984 | Determinism and Mass-Media Portrayals of Genetics | Celeste M. Condit, Nneka Ofulue, Kristine M. Sheedy |
| 985-986 | HLA and Mate Choice | Thomas J. Gill III |
| 986-987 | Reply to Gill | Lowell R. Weitkamp, Carole Ober |
| 987-991 | A Locus for Autosomal Recessive Hypodontia with Associated Dental Anomalies Maps to Chromosome 16q12.1 | Wasim Ahmad, Valeria Brancolini, Muhammad Faiyaz ul Haque, HaMut Lam, Sayed ul Haque, Mahmud Haider, Aijaz Maimon, Vincent M. Aita, Jason Owen, Donna Brown, David J. Zegarelli, Mahmud Ahmad, Jurg Ott, Angela M. Christiano |
| 991-994 | The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II | Jeffrey A. Becker, John Vlach, Nina Raben, Kanneboyina Nagaraju, Elizabeth M. Adams, Monique M. Hermans, Arnold J.J. Reuser, Susan Sklower Brooks, Cynthia J. Tifft, Rochelle Hirschhorn, Maryann L. Huie, Marc Nicolino, Paul H. Plotz |
| 994-995 | Linkage Thresholds for Two-stage Genome Scans | Leonid Kruglyak, Mark J. Daly |
| 996 | Response to Kruglyak | Stephen Sawcer, Hywel B. Jones, David Clayton |
| 998 | Genetic Skin Disorders | John C. Carey |
| 999 | Handbook of Psychiatric Genetics | Nick Craddock |
| 1000-1002 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1003-1007 | Replicative Senescence in the Immune System: Impact of the Hayflick Limit on T-Cell Function in the Elderly | Rita B. Effros |
| 1008-1014 | Causes, Effects, and Constraints in the Genetics of Human Longevity | François Schächter |
| 1015-1019 | The Genetics of Cellular Senescence | Nathalie G. Bérubé, James R. Smith, Olivia M. Pereira-Smith |
| 1020-1022 | Molecular Classification of the Inherited Hamartoma Polyposis Syndromes: Clearing the Muddied Waters | Charis Eng, HanLee Ji |
| 1023-1033 | Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients | Lawrence T. Reiter, Philip J. Hastings, Eva Nelis, Peter De Jonghe, Christine Van Broeckhoven, James R. Lupski |
| 1034-1043 | Mutations in Btk in Patients with Presumed X-Linked Agammaglobulinemia | Mary Ellen Conley, Derrick Mathias, Jason Treadaway, Yoshiyuki Minegishi, Jurg Rohrer |
| 1044-1051 | A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? | Nathalie M.J. van der Put, Fons Gabreëls, Erik M.B. Stevens, Jan A.M. Smeitink, Frans J.M. Trijbels, Tom K.A.B. Eskes, Lambert P. van den Heuvel, Henk J. Blom |
| 1052-1061 | Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis | Hans Christian Hennies, Wolfgang Küster, Victor Wiebe, Alice Krebsová, André Reis |
| 1062-1069 | Localization of the Gene for Congenital Dyserythropoietic Anemia Type I to a <1-cM Interval on Chromosome 15q15.1-15.3 | Hannah Tamary, Lea Shalmon, Hanna Shalev, Albudar Halil, Dina Dobrushin, Noga Ashkenazi, Meira Zoldan, Peretz Resnitzky, Michael Korostishevsky, Batsheva Bonne-Tamir, Rina Zaizov |
| 1070-1076 | A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24 | S.J. Mitchell, D.P. McHale, D.A. Campbell, N.J. Lench, R.F. Mueller, S.E. Bundey, A.F. Markham |
| 1077-1083 | Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers | Edwin H. Cook Jr., Rachel Y. Courchesne, Nancy J. Cox, Catherine Lord, David Gonen, Stephen J. Guter, Alan Lincoln, Kristi Nix, Richard Haas, Bennett L. Leventhal, Eric Courchesne |
| 1084-1091 | A Susceptibility Locus for Bipolar Affective Disorder on Chromosome 4q35 | Linda J. Adams, Philip B. Mitchell, Sharon L. Fielder, Amanda Rosso, Jennifer A. Donald, Peter R. Schofield |
| 1092-1101 | Renpenning Syndrome Maps to Xp11 | Roger E. Stevenson, J. Fernando Arena, Elizabeth Ouzts, Alice Gibson, M.H.K. Shokeir, Cindy Vnencak-Jones, Herbert A. Lubs, M. May, Charles E. Schwartz |
| 1102-1106 | A Gene for Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (EDA3 | Lingling Ho, Marc S. Williams, Richard A. Spritz |
| 1107-1112 | The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36 | José Faibes Lubianca Neto, Leonard Lu, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean Jacques Schott, Barbara McDonough, Jose Ignatio Santos, Christine E. Seidman, J.G. Seidman |
| 1113-1116 | A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32 | David A.R. Bessant, Shagufta Khaliq, Abdul Hameed, Khalid Anwar, S. Qasim Mehdi, Annette M. Payne, Shomi S. Bhattacharya |
| 1117-1122 | Mapping of a Congenital Microcoria Locus to 13q31-q32 | Christelle Rouillac, Olivier Roche, Dominique Marchant, Lucien Bachner, Alexandra Kobetz, Pierre-Jean Toulemont, Christophe Orssaud, Martine Urvoy, Sylvie Odent, Bernard Le Marec, Marc Abitbol, Jean-Louis Dufier |
| 1123-1128 | Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness | Leanne M. Moynihan, Sarah E. Bundey, David Heath, E. Lynn Jones, Duncan P. McHale, Robert F. Mueller, Alexander F. Markham, Nicholas J. Lench |
| 1129-1136 | A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1 | James R. Howe, John C. Ringold, Robert W. Summers, Frank A. Mitros, D.Y. Nishimura, Edwin M. Stone |
| 1137-1152 | mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe | Antonio Torroni, Hans-Jürgen Bandelt, Leila D'Urbano, Päivi Lahermo, Pedro Moral, Daniele Sellitto, Chiara Rengo, Peter Forster, Marja-Liisa Savontaus, Batsheva Bonné-Tamir, Rosaria Scozzari |
| 1153-1170 | mtDNA Analysis of a Prehistoric Oneota Population: Implications for the Peopling of the New World | Anne C. Stone, Mark Stoneking |
| 1171-1179 | Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation | Rick A. Kittles, Markus Perola, Leena Peltonen, Andrew W. Bergen, Richard A. Aragon, Matti Virkkunen, Markku Linnoila, David Goldman, Jeffrey C. Long |
| 1180-1188 | An Analysis of Linkage Disequilibrium in the Interleukin-1 Gene Cluster, Using a Novel Grouping Method for Multiallelic Markers | Angela Cox, Nicola J. Camp, Martin J.H. Nicklin, Francesco S. di Giovine, Gordon W. Duff |
| 1189-1197 | A Simple Method for Analyzing Microsatellite Allele Image Patterns Generated from DNA Pools and Its Application to Allelic Association Studies | Johanna Daniels, Peter Holmans, Nigel Williams, Dragana Turic, Peter McGuffin, Robert Plomin, Michael J. Owen |
| 1198-1211 | Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees | Laura Almasy, John Blangero |
| 1212-1227 | Statistical Evaluation of Age-at-Onset Anticipation: A New Test and Evaluation of Its Behavior in Realistic Applications | Veronica J. Vieland, Jian Huang |
| 1228-1242 | Simple, Robust Linkage Tests for Affected Sibs | Alice S. Whittemore, I-Ping Tu |
| 1243-1247 | Laboratory Guidelines for Huntington Disease Genetic Testing | Martha A. Nance, William Seltzer, Tetsuo Ashizawa, Robin Bennett, Nathalie McIntosh, Richard H. Myers, Nicholas T. Potter, David K. Shea |
| 1248-1252 | Segregation of a PRKCG | Mai Al-Maghtheh, Eranga N. Vithana, Chris F. Inglehearn, Tony Moore, Alan C. Bird, Shomi S. Bhattacharya |
| 1252-1254 | Diversity of Cystic Fibrosis Mutation-Screening Practices | Wayne W. Grody, Robert J. Desnick, Nancy J. Carpenter, Walter W. Noll |
| 1254-1258 | Linkage Disequilibrium Analysis in a Recently Founded Population: Evaluation of the Variegate Porphyria Founder in South African Afrikaners | Johannes Z. Groenewald, Junita Liebenberg, Ilse M. Groenewald, Louise Warnich |
| 1258-1260 | Worldwide Distribution of a Common Methylenetetrahydrofolate Reductase Mutation | Julie A. Schneider, David C. Rees, Yan-Tat Liu, John B. Clegg |
| 1260-1262 | Mutational Mechanisms for Generating Microsatellite Allele-Frequency Distributions: An Analysis of 4,558 Markers | Martin Farrall, Daniel E. Weeks |
| 1262-1265 | Some Underlooked Properties of the Multifactorial/Threshold Model | F. Clarke Fraser |
| 1266 | Announcements | |
| 1267 | Erratum | |
| 1267 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1269-1273 | Cytosine Methylation and the Unequal Developmental Potentials of the Oocyte and Sperm Genomes | Timothy H. Bestor |
| 1274-1281 | Male Infertility and the Genetics of Spermatogenesis | Masaru Okabe, Masahito Ikawa, John Ashkenas |
| 1282-1287 | Genetic Causes of Female Infertility: Targeted Mutagenesis in Mice | Stephen Greenhouse, Tracy Rankin, Jurrien Dean |
| 1288-1289 | Classification of Familial Adenomatous Polyposis: A Diagnostic Nightmare | Henry T. Lynch, Thomas C. Smyrk |
| 1290-1301 | Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli | Claudio Soravia, Terri Berk, Lisa Madlensky, Angela Mitri, Hong Cheng, Steven Gallinger, Zane Cohen, Bharati Bapat |
| 1302-1311 | Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD | Beat Thöny, Frank Neuheiser, Lucja Kierat, Milan Blaskovics, Pamela H. Arn, Patrick Ferreira, Igor Rebrin, June Ayling, Nenad Blau |
| 1312-1319 | Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations | Mary Anna Carbone, Nevi MacKay, Mingfu Ling, David E.C. Cole, Cheryl Douglas, Brigitte Rigat, Annette Feigenbaum, Joe T.R. Clarke, James C. Haworth, Cheryl R. Greenberg, Lorne Seargeant, Brian H. Robinson |
| 1320-1331 | X-Linked Chronic Granulomatous Disease: Mutations in the CYBB | Julie Rae, Peter E. Newburger, Mary C. Dinauer, Deborah Noack, Penelope J. Hopkins, Ryoko Kuruto, John T. Curnutte |
| 1332-1340 | Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome | Rosa Vargas-Poussou, Delphine Feldmann, Martin Vollmer, Martin Konrad, Lisa Kelly, Lambertus P.W.J. van den Heuvel, Lamia Tebourbi, Matthias Brandis, Lothar Karolyi, Steven C. Hebert, Henny H. Lemmink, Georges Deschênes, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Lisa M. Guay-Woodford, Nine V.A.M. Knoers, Corinne Antignac |
| 1341-1352 | Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria | U.B. Rüfenacht, L. Gouya, X. Schneider-Yin, H. Puy, B.W. Schäfer, R. Aquaron, Y. Nordmann, E.I. Minder, J.C. Deybach |
| 1353-1360 | Mutation Analysis of UBE3A in Angelman Syndrome Patients | Perrine Malzac, Hayley Webber, Anne Moncla, John M. Graham Jr, Mary Kukolich, Charles Williams, Roberta A. Pagon, Linda A. Ramsdell, Tatsuya Kishino, Joseph Wagstaff |
| 1361-1369 | Spectrum and Frequency of Jagged1 (JAG1) | Ian D. Krantz, Raymond P. Colliton, Anna Genin, Elizabeth B. Rand, Linheng Li, David A. Piccoli, Nancy B. Spinner |
| 1370-1380 | Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST | William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark H. Lipson, Art W. Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John Mulliken, Mingfei Yin, Ethylin Wang Jabs |
| 1381-1388 | Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 | Susan L. Neuhausen, Andrew K. Godwin, Ruth Gershoni-Baruch, Elizabeth Schubert, Judy Garber, Dominique Stoppa-Lyonnet, Edith Olah, Bela Csokay, Olga Serova, Fiona Lalloo, Ana Osorio, Michael Stratton, Kenneth Offit, Jeff Boyd, M. Adelaide Caligo, Rodney J. Scott, Andy Schofield, Eric Teugels, Manfred Schwab, Lisa Cannon-Albright, et al. | |
| 1389-1402 | A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations | S.A. Tishkoff, A. Goldman, F. Calafell, W.C. Speed, A.S. Deinard, B. Bonne-Tamir, J.R. Kidd, A.J. Pakstis, T. Jenkins, K.K. Kidd |
| 1403-1407 | The Hemochromatosis 845 G→A and 187 C→G Mutations: Prevalence in Non-Caucasian Populations | Lara M. Cullen, Xiaojiang Gao, Simon Easteal, Elizabeth C. Jazwinska |
| 1408-1415 | Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat | Bernd Brinkmann, Michael Klintschar, Franz Neuhuber, Julia Hühne, Burkhard Rolf |
| 1416-1424 | Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43 | Philippe Berthon, Antoine Valeri, Annick Cohen-Akenine, Eric Drelon, Thomas Paiss, Gudrun Wöhr, Alain Latil, Philippe Millasseau, Imène Mellah, Nadine Cohen, Hélène Blanché, Christine Bellané-Chantelot, Florence Demenais, Pierre Teillac, Alain Le Duc, Robert de Petriconi, Richard Hautmann, Ilya Chumakov, Lucien Bachner, Norman J. Maitland, et al. | |
| 1425-1438 | Evidence for Autosomal Dominant Inheritance of Prostate Cancer | Daniel J. Schaid, Shannon K. McDonnell, Michael L. Blute, Stephen N. Thibodeau |
| 1439-1445 | Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 | Behzad Moghadaszadeh, Isabelle Desguerre, Haluk Topaloglu, Francesco Muntoni, Sylvana Pavek, Caroline Sewry, Michèle Mayer, Michel Fardeau, Fernando M.S. Tomé, Pascale Guicheney |
| 1446-1451 | Linkage of Familial Hibernian Fever to Chromosome 12p13 | Michael F. McDermott, B. William Ogunkolade, Elizabeth M. McDermott, Lisa C. Jones, Ying Wan, Kathleen A. Quane, John McCarthy, Mark Phelan, Michael G. Molloy, Richard J. Powell, Christopher I. Amos, Graham A. Hitman |
| 1452-1459 | A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters | Agustín Ruiz, Salud Borrego, Irene Marcos, Guillermo Antiñolo |
| 1460-1467 | Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine | Hiroaki Koga, Takashi Sakou, Eiji Taketomi, Kyouji Hayashi, Takuya Numasawa, Seiko Harata, Kazunori Yone, Shunji Matsunaga, Brith Otterud, Ituro Inoue, Mark Leppert |
| 1468-1474 | Haplotype Mapping of a Major Quantitative-Trait Locus for Fetal Hemoglobin Production, on Chromosome 6q23 | C. Garner, J. Mitchell, T. Hatzis, J. Reittie, M. Farrall, S.L. Thein |
| 1475-1483 | An Alternative Route for Multistep Tumorigenesis in a Novel Case of Hereditary Renal Cell Cancer and a t(2;3)(q35;q21) Chromosome Translocation | Daniëlle Bodmer, Marc J. Eleveld, Marjolijn J.L. Ligtenberg, Marian A.J. Weterman, Bert A.P. Janssen, Dominique F.C.M. Smeets, Peter E.J. de Wit, Anke van den Berg, Eva van den Berg, Marianne I. Koolen, Ad Geurts van Kessel |
| 1484-1492 | Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome 9q32-q34.3 | Graeme M. Brown, Margaret Leversha, Maj Hulten, Malcolm A. Ferguson-Smith, Nabeel A. Affara, Robert A. Furlong |
| 1493-1499 | Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome | A.K. Naumova, M. Leppert, D.F. Barker, K. Morgan, C. Sapienza |
| 1500-1506 | Identification of Cryptic Rearrangements in Patients with 18q− Deletion Syndrome | Zoran Brkanac, Jannine D. Cody, Robin J. Leach, Barbara R. DuPont |
| 1507-1515 | Dating the Origin of the CCR5 | J. Claiborne Stephens, David E. Reich, David B. Goldstein, Hyoung Doo Shin, Michael W. Smith, Mary Carrington, Cheryl Winkler, Gavin A. Huttley, Rando Allikmets, Lynn Schriml, Bernard Gerrard, Michael Malasky, Maria D. Ramos, Susanne Morlot, Maria Tzetis, Carole Oddoux, Francesco S. di Giovine, Georgios Nasioulas, David Chandler, Michael Aseev, et al. | |
| 1516-1524 | Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality | Gloria M. Petersen, Giovanni Parmigiani, Duncan Thomas |
| 1525-1534 | A Model for Antagonistic Pleiotropic Gene Action for Mortality and Advanced Age | Bruno Toupance, Bernard Godelle, Pierre-Henri Gouyon, François Schächter |
| 1535-1539 | Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation | Jaak Jaeken, Gert Matthijs, Jean-Marie Saudubray, Carlo Dionisi-Vici, Enrico Bertini, Pascale de Lonlay, Hugues Henri, Hubert Carchon, Els Schollen, Emile Van Schaftingen |
| 1539-1543 | Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders | Atsushi Imamura, Toshiro Tsukamoto, Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhonghi Zhang, Tsuneo Imanaka, Yukio Fujiki, Tadao Orii, Naomi Kondo, Takashi Osumi |
| 1543-1544 | A Breast Cancer Patient of Scottish Descent with Germ-Line Mutations in BRCA1 | Alexander Liede, Pauline Rehal, Danny Vesprini, Elaine Jack, John Abrahamson, Steven A. Narod |
| 1544-1548 | Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families | Pia Huusko, Kati Pääkkönen, Virpi Launonen, Minna Pöyhönen, Guillermo Blanco, Antti Kauppila, Ulla Puistola, Heikki Kiviniemi, Marika Kujala, Jaakko Leisti, Robert Winqvist |
| 1548-1551 | A Triplet Repeat on 17q Accounts for Most Expansions Detected by the Repeat-Expansion–Detection Technique | Ellen Sidransky, Catherine Burgess, Takeshi Ikeuchi, Kerstin Lindblad, Robert T. Long, Robert A. Philibert, Judith Rapoport, Martin Schalling, Shoji Tsuji, Edward I. Ginns |
| 1551-1555 | Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia | Yanzhen Pan, Christopher D. McCaskill, Katherine H. Thompson, John Hicks, Brett Casey, Lisa G. Shaffer, William J. Craigen |
| 1555-1557 | Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation | Barbara R. Migeon, Camille Haisley-Royster |
| 1557-1558 | Reply to Migeon and Haisley-Royster | Eric Hoffman, Elena Pegoraro, Mark Lanasa |
| 1558-1560 | Difficulties in the Estimation of Ethnic Affiliation | Charles H. Brenner |
| 1560-1561 | Reply to Brenner | Mark D. Shriver, Michael W. Smith, Li Jin |
| 1561-1562 | Discriminating between True and False-Positive Peaks in a Genomewide Linkage Scan, by Use of the Peak Length | Michael Knapp |
| 1563-1564 | Announcements | |
| 1565-1574 | Author Index for Volume 62 | |
| 1575-1583 | Subject Index for Volume 62 | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1-5 | Host Susceptibility to Cancer Progression | Steven A. Narod |
| 6-10 | Nm23-H1: Genetic Alterations and Expression Patterns in Tumor Metastasis | Melanie T. Hartsough, Patricia S. Steeg |
| 11-16 | Pharmacogenetics of Cancer Therapy: Getting Personal | Eugene Y. Krynetski, William E. Evans |
| 17-19 | X-Chromosome Inactivation Spreads Itself: Effects in Autosomes | Mary F. Lyon |
| 20-28 | The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA | Wendy M. White, Huntington F. Willard, Daniel L. Van Dyke, Daynna J. Wolff |
| 29-36 | Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA | M.G. Hanna, I.P. Nelson, S. Rahman, R.J.M. Lane, J. Land, S. Heales, M.J. Cooper, A.H.V. Schapira, J.A. Morgan-Hughes, N.W. Wood |
| 37-44 | Maternal Mosaicism for a Second Mutational Event in a Type I Spinal Muscular Atrophy Family | Louise Campbell, Rachael J. Daniels, Victor Dubowitz, Kay E. Davies |
| 45-51 | Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients | Flora H. Fodor, Ainsley Weston, Ira J. Bleiweiss, Leslie D. McCurdy, Mary M. Walsh, Paul I. Tartter, Steven T. Brower, Christine M. Eng |
| 52-54 | The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1 | W.L. Greer, D.C. Riddell, T.L. Gillan, G.S. Girouard, S.M. Sparrow, D.M. Byers, M.J. Dobson, P.E. Neumann |
| 55-62 | Mutations in the Human Sterol Δ7 | Christopher A. Wassif, Cheryl Maslen, Stivelia Kachilele-Linjewile, Don Lin, Leesa M. Linck, William E. Connor, Robert D. Steiner, Forbes D. Porter |
| 63-70 | Muir-Torre Phenotype Has a Frequency of DNA Mismatch-Repair-Gene Mutations Similar to That in Hereditary Nonpolyposis Colorectal Cancer Families Defined by the Amsterdam Criteria | Roland Kruse, Arno Rütten, Christof Lamberti, Hamid Reza Hosseiny-Malayeri, Yaping Wang, Corina Ruelfs, Matthias Jungck, Micaela Mathiak, Thomas Ruzicka, Wolfgang Hartschuh, Michele Bisceglia, Waltraut Friedl, Peter Propping |
| 71-79 | A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype | PerGuldberg, Françoise Rey, Johannes Zschocke, Valentino Romano, Baudouin François, Luc Michiels, Kurt Ullrich, Georg F. Hoffmann, Peter Burgard, Hildgund Schmidt, Concetta Meli, Enrica Riva, Irma Dianzani, Alberto Ponzone, Jean Rey, Flemming Güttler |
| 80-87 | Autosomal Recessive Juvenile Parkinsonism Maps to 6q25.2-q27 in Four Ethnic Groups: Detailed Genetic Mapping of the Linked Region | Alison C. Jones, Yasuhiro Yamamura, Laura Almasy, Saeed Bohlega, Bülent Elibol, Jean Hubble, Shigeki Kuzuhara, Masao Uchida, Tsutomu Yanagi, Daniel E. Weeks, Torbjoern G. Nygaard |
| 88-94 | Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family | Johann Tassin, Alexandra Dürr, Thomas de Broucker, Nacer Abbas, Vincenzo Bonifati, Giuseppe De Michele, Anne-Marie Bonnet, Emmanuel Broussolle, Pierre Pollak, Marie Vidailhet, Michele De Mari, Roberto Marconi, Soraya Medjbeur, Allessandro Filla, Giuseppe Meco, Yves Agid, Alexis Brice and The French Parkinson's Disease Genetics Study Group and The European Consortium on Genetic Susceptibility in Parkinson's Disease |
| 95-100 | Linkage and Association between Inflammatory Bowel Disease and a Locus on Chromosome 12 | Richard H. Duerr, M. Michael Barmada, Leilei Zhang, Sean Davis, Robert A. Preston, Lara J. Chensny, Jody L. Brown, Garth D. Ehrlich, Daniel E. Weeks, Christopher E. Aston |
| 101-108 | Evidence for Linkage of Human Primary Systemic Carnitine Deficiency with D5S436: | Yutaka Shoji, Akio Koizumi, Tsuyoshi Kayo, Tomoaki Ohata, Tsutomu Takahashi, Kenji Harada, Goro Takada |
| 109-119 | Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p | Terri L. Young, Shawn M. Ronan, Leslie A. Drahozal, Scott C. Wildenberg, Alison B. Alvear, William S. Oetting, Larry D. Atwood, Douglas J. Wilkin, Richard A. King |
| 120-124 | Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 | Deborah Krakow, Kent Reinker, Berkley Powell, Rita Cantor, Mary Ann Priore, Ann Garber, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn |
| 125-134 | Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype | Karen M. Cerosaletti, Ethan Lange, Heather M. Stringham, Corry M.R. Weemaes, Dominique Smeets, B. Sölder, B.H. Belohradsky, A. Malcolm R. Taylor, Pamela Karnes, Alison Elliott, Kenshi Komatsu, Richard A. Gatti, Michael Boehnke, Pat Concannon |
| 135-139 | A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 | Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Alessandro Filla, Roberto Marconi, Giampiero Volpe, Antonella Monticelli, Andrea Ballabio, Giorgio Casari, Sergio Cocozza |
| 140-147 | A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus | Tracey Weiler, Cheryl R. Greenberg, Teresa Zelinski, Edward Nylen, Gail Coghlan, M. Joyce Crumley, T. Mary Fujiwara, Kenneth Morgan, Klaus Wrogemann |
| 148-154 | Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping | Adel Shalata, Hanna Mandel, Jochen Reiss, Raymonde Szargel, Annick Cohen-Akenine, Claude Dorche, Marie-Therese Zabot, Albert Van Gennip, Nico Abeling, Moshe Berant, Nadine Cohen |
| 155-162 | Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9 | Sarina G. Kant, Alexander Polinkovsky, Stefan Mundlos, Bernhard Zabel, Ralph T.W.M. Thomeer, Harmien M. Zonderland, Ling-yu Shih, Arie van Haeringen, Matthew L. Warman |
| 163-169 | Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43 | Ruti Parvari, Eli Hershkovitz, Adam Kanis, Rafael Gorodischer, Shlomit Shalitin, Val C. Sheffield, Rivka Carmi |
| 170-180 | Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis | Karin Buiting, Bärbel Dittrich, Stephanie Groß, Christina Lich, Claudia Färber, Tina Buchholz, Ellie Smith, André Reis, Joachim Bürger, Markus M. Nöthen, Ulli Barth-Witte, Bart Janssen, Dvorah Abeliovich, Israela Lerer, Ans M.W. van den Ouweland, Dicky J.J. Halley, Connie Schrander-Stumpel, Hubert Smeets, Peter Meinecke, Sue Malcolm, et al. | |
| 181-190 | Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric Kpn | S. Cacurri, N. Piazzo, G. Deidda, E. Vigneti, G. Galluzzi, L. Colantoni, B. Merico, E. Ricci, L. Felicetti |
| 191-199 | Linkage Analysis of Human Leukocyte Antigen (HLA) Markers in Familial Psoriasis: Strong Disequilibrium Effects Provide Evidence for a Major Determinant in the HLA-B/-C Region | Stefan Jenisch, Tilo Henseler, Rajan P. Nair, Sun-Wei Guo, Eckhard Westphal, Philip Stuart, Martin Krönke, John J. Voorhees, Enno Christophers, James T. Elder |
| 200-206 | Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration | Caroline C.W. Klaver, Mike Kliffen, Cornelia M. van Duijn, Albert Hofman, Marc Cruts, Diederick E. Grobbee, Christine van Broeckhoven, Paulus T.V.M. de Jong |
| 207-217 | Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH | Karen Woodward, Elaine Kendall, David Vetrie, Sue Malcolm |
| 218-224 | Direct Evidence for Suppression of Recombination within Two Pericentric Inversions in Humans: A New Sperm-FISH Technique | Maarit Jaarola, Renée H. Martin, Terry Ashley |
| 225-240 | Mapping of Complex Traits by Single-Nucleotide Polymorphisms | Lue Ping Zhao, Corinne Aragaki, Li Hsu, Filemon Quiaoit |
| 241-251 | Mapping Genes That Underlie Ethnic Differences in Disease Risk: Methods for Detecting Linkage in Admixed Populations, by Conditioning on Parental Admixture | Paul M. McKeigue |
| 259-266 | PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis | Jeffrey R. O'Connell, Daniel E. Weeks |
| 267-269 | A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map | Carolyn Schanen, Uta Francke |
| 269-270 | Alternative Interpretation of Reported Paracentric Inversion | David F. Callen |
| 270 | Reply to Callen | Sanjay I. Bidichandani, Antonio Baldini, Pragna I. Patel |
| 270-272 | Anticipation in Familial Hodgkin Lymphoma | Yin Yao Shugart |
| 272-274 | The 8765delAG Mutation in BRCA2 Is Common among Jews of Yemenite Extraction | Israela Lerer, Tieling Wang, Tamar Peretz, Michal Sagi, Luna Kaduri, Avi Orr-Urtreger, Jona Stadler, Haim Gutman, Dvorah Abeliovich |
| 274-279 | Localization of a Gene (CORD7 | Rosemary E. Kelsell, Kevin Gregory-Evans, Cheryl Y. Gregory-Evans, Graham E. Holder, Marcelle R. Jay, Bernhard H.F. Weber, Anthony T. Moore, Alan C. Bird, David M. Hunt |
| 279-282 | Evidence for Linkage of Spelling Disability to Chromosome 15 | Gerd Schulte-Körne, Tiemo Grimm, Markus M. Nöthen, Bertram Müller-Myhsok, Sven Cichon, Ina R. Vogt, Peter Propping, Helmut Remschmidt |
| 283-289 | Statistical Evidence: A Likelihood Paradigm | Veronica J. Vieland, Susan E. Hodge |
| 289-290 | Culture, Kinship and Genes: Towards Cross-Cultural Genetics | Anna Middleton |
| 290-291 | The Centromere | William Earnshaw |
| 292-294 | Announcements | |
| 295 | Errata | |
| 295 | Errata | |
| 252-258 | Inflation of Sibling Recurrence-Risk Ratio, Due to Ascertainment Bias and/or Overreporting | Sun-Wei Guo |
| i-ii | This Month in the Journal | John Ashkenas |
| 297-304 | Structure, Organization, and Dynamics of Promyelocytic Leukemia Protein Nuclear Bodies | Maria Hodges, Catherine Tissot, Kathy Howe, David Grimwade, Paul S. Freemont |
| 305-310 | The Tpr Protein: Linking Structure and Function in the Nuclear Interior? | Michael R. Paddy |
| 311-316 | Nuclear Transport: Run by Ran? | Mary Dasso, Robert T. Pu |
| 317-321 | Coiled Bodies and Gems: Janus or Gemini? | A. Gregory Matera, Mark R. Frey |
| 322-326 | RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis | Richard I. Kelley |
| 327-328 | The Timing of Twinning: More Insights from X Inactivation | Jennifer M. Puck |
| 329-338 | Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene | Hans R. Waterham, Frits A. Wijburg, Raoul C.M. Hennekam, Peter Vreken, Bwee Tien Poll-The, Lambertus Dorland, Marinus Duran, Petr E. Jira, Jan A.M. Smeitink, Ron A. Wevers, Ronald J.A. Wanders |
| 339-346 | Commitment to X Inactivation Precedes the Twinning Event in Monochorionic MZ Twins | Joanita Monteiro, Catherine Derom, Robert Vlietinck, Nina Kohn, Martin Lesser, Peter K. Gregersen |
| 347-359 | Identification of PEX10, | Daniel S. Warren, James C. Morrell, Hugo W. Moser, David Valle, Stephen J. Gould |
| 360-369 | Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients | Pilar Rodríguez-Pombo, Janet Hoenicka, Silvia Muro, Belén Pérez, Celia Pérez-Cerdá, Eva Richard, Lourdes R. Desviat, Magdalena Ugarte |
| 370-379 | Molecular Basis for Hypertension in the “Type II Variant” of Apparent Mineralocorticoid Excess | A. Li, R. Tedde, Z.S. Krozowski, A. Pala, K.X.Z. Li, C.H.L. Shackleton, F. Mantero, M. Palermo, P.M. Stewart |
| 380-389 | Identification of a New Splice Form of the EDA1 | Alex W. Monreal, Jonathan Zonana, Betsy Ferguson |
| 390-398 | A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families | Nigel P. Burrows, Alan C. Nicholls, Allan J. Richards, Craig Luccarini, J. Barrie Harrison, John R.W. Yates, F. Michael Pope |
| 399-408 | Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria) | Ken L. Chambliss, Debra D. Hinson, Flavia Trettel, Patrizia Malaspina, Andrea Novelletto, Cornelis Jakobs, K. Michael Gibson |
| 409-414 | Functionally Null Mutations in Patients with the cblG | A. Wilson, D. Leclerc, F. Saberi, E. Campeau, H.Y. Hwang, B. Shane, J.A. Phillips III, D.S. Rosenblatt, R.A. Gravel |
| 415-427 | Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease | Dominique P. Germain, Jean-Philippe Puech, Catherine Caillaud, Axel Kahn, Livia Poenaru |
| 428-435 | A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase Deficiency | Jürgen-Christoph von Kleist-Retzow, Valérie Cormier-Daire, Pascale de Lonlay, Béatrice Parfait, Dominique Chretien, Pierre Rustin, Josué Feingold, Agnès Rötig, Arnold Munnich |
| 436-446 | A Novel Alu- | Alessandra Ferlini, Nazzareno Galié, Luciano Merlini, Caroline Sewry, Angelo Branzi, Francesco Muntoni |
| 447-454 | Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population | Kari Majamaa, Jukka S. Moilanen, Seija Uimonen, Anne M. Remes, Pasi I. Salmela, Mikko Kärppä, Kirsi A.M. Majamaa-Voltti, Harri Rusanen, Martti Sorri, Keijo J. Peuhkurinen, Ilmo E. Hassinen |
| 455-467 | Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders | Sophie Giraud, Chang X. Zhang, Olga Serova-Sinilnikova, Virginie Wautot, Janine Salandre, Nathalie Buisson, Christine Waterlot, Catherine Bauters, Nicole Porchet, Jean-Pierre Aubert, Philippe Emy, Guillaume Cadiot, Brigitte Delemer, Olivier Chabre, Patricia Niccoli, Frédéric Leprat, Francoise Duron, Brigitte Emperauger, Patrick Cougard, Pierre Goudet, et al. | |
| 468-473 | Founder Effect at PGL1 in Hereditary Head and Neck Paraganglioma Families from The Netherlands | Evert M. van Schothorst, Jeroen C. Jansen, Edward Grooters, Duncan E.M. Prins, Joris J. Wiersinga, Andel G.L. van der Mey, G.-J. B. van Ommen, Peter Devilee, Cees J. Cornelisse |
| 474-488 | Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes | Michael Krawczak, Edward V. Ball, David N. Cooper |
| 489-497 | An Association, in Adult Japanese, between the Occurrence of Rogue Cells among Cultured Lymphocytes (JC Virus Activity) and the Frequency of “Simple” Chromosomal Damage among the Lymphocytes of Persons Exhibiting These Rogue Cells | James V. Neel |
| 498-505 | Malaria in Humans: Plasmodium falciparum | Pascal Rihet, Yves Traoré, Laurent Abel, Christophe Aucan, Thérèse Traoré-Leroux, Francis Fumoux |
| 506-516 | Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals | Päivi Mäkelä-Bengs, Niklas Järvinen, Katri Vuopala, Anu Suomalainen, Jaakko Ignatius, Mari Sipilä, Riitta Herva, Aarno Palotie, Leena Peltonen |
| 517-525 | Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13 | S.M. Wang, J. Zwaan, P.B. Mullaney, M.H. Jabak, A. Al-Awad, A.H. Beggs, E.C. Engle |
| 526-533 | Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter | Michio Hirano, Justo Garcia-de-Yebenes, Alison C. Jones, Ichizo Nishino, Salvatore DiMauro, José R. Carlo, Adam N. Bender, Angelica F. Hahn, Larry M. Salberg, Daniel E. Weeks, Torbjoern G. Nygaard |
| 534-540 | A Defect in the Regional Deposition of Adipose Tissue (Partial Lipodystrophy) Is Encoded by a Gene at Chromosome 1q | Stephen N.J. Jackson, John Pinkney, Alex Bargiotta, Colin D. Veal, Trevor A. Howlett, Paul G. McNally, Roger Corral, Andrew Johnson, Richard C. Trembath |
| 541-546 | Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter | Andrew P. Jackson, Duncan P. McHale, David A. Campbell, Hussain Jafri, Yasmin Rashid, Jovaria Mannan, Gulshan Karbani, Peter Corry, Malcolm I. Levene, Robert F. Mueller, Alexander F. Markham, Nicholas J. Lench, C. Geoffrey Woods |
| 547-556 | Fine Mapping of the Diabetes-Susceptibility Locus, IDDM4, | Yusuke Nakagawa, Yoshihiko Kawaguchi, Rebecca C.J. Twells, Claire Muxworthy, Kara M.D. Hunter, Amanda Wilson, Marilyn E. Merriman, Roger D. Cox, Tony Merriman, Francesco Cucca, Patricia A. McKinney, Julian P.H. Shield, Jaakko Tuomilehto, Eva Tuomilehto-Wolf, Constantin Ionesco-Tirgoviste, Lorenza Nisticò, Raffaella Buzzetti, Paolo Pozzilli, San-Raffaele Family Study, Geir Joner, et al. | |
| 557-568 | Association of MSX1 and TGFB3 with Nonsyndromic Clefting in Humans | Andrew C. Lidral, Paul A. Romitti, Ann M. Basart, Thomas Doetschman, Nancy J. Leysens, Sandra Daack-Hirsch, Elena V. Semina, Lisa R. Johnson, Junichiro Machida, Aurora Burds, Timothy J. Parnell, John L.R. Rubenstein, Jeffrey C. Murray |
| 569-576 | An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency | Sandra J. Hasstedt, Edwin G. Bovill, Peter W. Callas, George L. Long |
| 577-585 | Families with Familial Combined Hyperlipidemia and Families Enriched for Coronary Artery Disease Share Genetic Determinants for the Atherogenic Lipoprotein Phenotype | Hooman Allayee, Bradley E. Aouizerat, Rita M. Cantor, Geesje M. Dallinga-Thie, Ronald M. Krauss, Christopher D. Lanning, Jerome I. Rotter, Aldons J. Lusis, Tjerk W.A. de Bruin |
| 586-594 | A Common Genetic Mechanism Determines Plasma Apolipoprotein B Levels and Dense LDL Subfraction Distribution in Familial Combined Hyperlipidemia | Suh-Hang Hank Juo, Sebastian J.H. Bredie, Lambertus A. Kiemeney, Pierre N.M. Demacker, Anton F.H. Stalenhoef |
| 595-612 | Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein Lipase | Andrew G. Clark, Kenneth M. Weiss, Deborah A. Nickerson, Scott L. Taylor, Anne Buchanan, Jari Stengård, Veikko Salomaa, Erkki Vartiainen, Markus Perola, Eric Boerwinkle, Charles F. Sing |
| 613-624 | Mitochondrial and Nuclear Genetic Relationships among Pacific Island and Asian Populations | J. Koji Lum, Rebecca L. Cann, Jeremy J. Martinson, Lynn B. Jorde |
| 625-637 | From Amplification to Gene in Thyroid Cancer: A High-Resolution Mapped Bacterial-Artificial-Chromosome Resource for Cancer Chromosome Aberrations Guides Gene Discovery after Comparative Genome Hybridization | X.-N. Chen, J.A. Knauf, R. Gonsky, M. Wang, E.H. Lai, S. Chissoe, J.A. Fagin, J.R. Korenberg |
| 638-647 | Robustness and Power of the Maximum-Likelihood–Binomial and Maximum-Likelihood–Score Methods, in Multipoint Linkage Analysis of Affected-Sibship Data | Laurent Abel, Bertram Müller-Myhsok |
| 648-651 | Repeat Expansion–Detection Analysis of Telomeric Uninterrupted (TTAGGG)n | Giorgio Sirugo, Kenneth K. Kidd |
| 651-654 | A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy | Isabelle Perrault, Jean-Michel Rozet, Sylvie Gerber, Rosemary E. Kelsell, Eric Souied, Annick Cabot, David M. Hunt, Arnold Munnich, Josseline Kaplan |
| 654-656 | Mapping Genes by Drift-Generated Linkage Disequilibrium | Maris Laan, Svante Pääbo |
| 656-662 | Evidence for a Common Ethnic Origin of Cystic Fibrosis Mutation 3120+1G→A in Diverse Populations | Thilo Dörk, El-Harith A. El-Harith, Manfred Stuhrmann, Milan Macek Jr., Michelle Egan, Garry R. Cutting, Maria Tzetis, Emmanuel Kanavakis, Soukeyna Carles, Mireille Claustres, Carolyn Padoa, Michèle Ramsay, Jörg Schmidtke |
| 662-663 | Media Portrayals of Genetics | Dorothy Nelkin, M. Susan Lindee |
| 663 | Reply to Nelkin and Lindee | Celeste M. Condit |
| 664-667 | Maximum-Likelihood Expression of the Transmission/Disequilibrium Test and Power Considerations | Laurent Abel, Bertram Müller-Myhsok |
| 668 | Robert Guthrie: The PKU Story | Harvey L. Levy |
| 669-672 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 673-677 | Group Identity and Human Diversity: Keeping Biology Straight from Culture | Eric T. Juengst |
| 678-681 | Pedigrees—Publish? or Perish the Thought? | Peter H. Byers, John Ashkenas |
| 682-685 | Rethinking Risks to Human Subjects in Genetic Research | Philip R. Reilly |
| 686-687 | "Well-Bear and Well-Rear" in China? | B.M. Knoppers |
| 688-695 | Chinese Geneticists' Views of Ethical Issues in Genetic Testing and Screening: Evidence for Eugenics in China | Xin Mao |
| 696-702 | A Model Agreement for Genetic Research in Socially Identifiable Populations | Morris W. Foster, Deborah Bernsten, Thomas H. Carter |
| 703-710 | Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 | Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella Franco, George Feldman, David L. Gasser, Bärbel Wittwer, Eugenio Montini, John M. Opitz, Andrea Ballabio, Maximilian Muenke |
| 711-716 | Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome | Douglas J. Wilkin, Jinny K. Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus, Michelle L. Mack, Ilkka Kaitila, John Loughlin, Arnold Munnich, Bryan Sykes, Jacky Bonaventure, Clair A. Francomano |
| 717-726 | Dihydropyrimidinase Deficiency: Structural Organization, Chromosomal Localization, and Mutation Analysis of the Human Dihydropyrimidinase Gene | Naoki Hamajima, Masanori Kouwaki, Peter Vreken, Kouichi Matsuda, Satoshi Sumi, Masayuki Imaeda, Satoru Ohba, Kiyoshi Kidouchi, Masaru Nonaka, Makoto Sasaki, Nanaya Tamaki, Yuichi Endo, Ronnie De Abreu, Jan Rotteveel, André van Kuilenburg, Albert van Gennip, Hajime Togari, Yoshiro Wada |
| 727-736 | Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis | D.G.R. Evans, A.J. Wallace, C.L. Wu, L. Trueman, R.T. Ramsden, T. Strachan |
| 737-748 | Deletions within COL7A1 Exons Distant from Consensus Splice Sites Alter Splicing and Produce Shortened Polypeptides in Dominant Dystrophic Epidermolysis Bullosa | Anavaj Sakuntabhai, Nadja Hammami-Hauasli, Christine Bodemer, Ariane Rochat, Catherine Prost, Yann Barrandon, Yves de Prost, Mark Lathrop, Fenella Wojnarowska, Leena Bruckner-Tuderman, Alain Hovnanian |
| 749-759 | Systematic Analysis of hMSH2 and hMLH1 in Young Colon Cancer Patients and Controls | Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D. Burczak, David J. Robbins, Malcolm G. Dunlop |
| 760-768 | Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait | Pia Höglund, Mari Auranen, Jerzy Socha, Kataryna Popinska, Hisham Nazer, Usha Rajaram, Abdullah Al Sanie, Mohammed Al-Ghanim, Christer Holmberg, Albert de la Chapelle, Juha Kere |
| 769-775 | Evidence from Human Oocytes for a Genetic Bottleneck in an mtDNA Disease | D.R. Marchington, V. Macaulay, G.M. Hartshorne, D. Barlow, J. Poulton |
| 776-785 | Examination of Factors Associated with Instability of the FMR1 CGG Repeat | Allison E. Ashley-Koch, Hazel Robinson, Anne E. Glicksman, Sarah L. Nolin, Charles E. Schwartz, W. Ted Brown, Gillian Turner, Stephanie L. Sherman |
| 786-793 | Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family | Jorune Balciuniene, Niklas Dahl, Erik Borg, Eva Samuelsson, Markus J. Koisti, Ulf Pettersson, Elena E. Jazin |
| 794-802 | A Gene Involved in XY Sex Reversal Is Located on Chromosome 9, Distal to Marker D9S1779 | Wendy L. Flejter, Jennifer Fergestad, Jerome Gorski, Tena Varvill, Settara Chandrasekharappa |
| 803-809 | Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping | Cisca Wijmenga, Lambert P. W.J. van den Heuvel, Eric Strengman, Jan A.F.M. Luyten, Ineke J.A.M. van der Burgt, Ronald de Groot, Dominique F.C.M. Smeets, Jos M.T. Draaisma, Jacques J. van Dongen, Ronney A. De Abreu, Peter L. Pearson, Lodewijk A. Sandkuijl, Corry M.R. Weemaes |
| 810-816 | Genomewide Search for Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis): Mapping of Locus to Chromosome 16 (16q23-qter) | M. Carella, G. Stewart, J.F. Ajetunmobi, S. Perrotta, S. Grootenboer, G. Tchernia, J. Delaunay, A. Totaro, L. Zelante, P. Gasparini, A. Iolascon |
| 817-824 | Evidence for a Novel Osteosarcoma Tumor-Suppressor Gene in the Chromosome 18 Region Genetically Linked with Paget Disease of Bone | Maggie J. Nellissery, Susan S. Padalecki, Zoran Brkanac, Frederick R. Singer, G. David Roodman, K. Krishnan Unni, Robin J. Leach, Marc F. Hansen |
| 825-830 | Inheritance of Astigmatism: Evidence for a Major Autosomal Dominant Locus | Maurizio Clementi, Mario Angi, Paola Forabosco, Elena Di Gianantonio, Romano Tenconi |
| 831-838 | Evidence for at Least Two Major Loci Influencing Human Fatness | Ingrid B. Borecki, John Blangero, Treva Rice, Louis Pérusse, Claude Bouchard, D.C. Rao |
| 839-846 | Identification of Genetic Markers Associated with Gilles de la Tourette Syndrome in an Afrikaner Population | Ingrid Simonic, George S. Gericke, Jurg Ott, James L. Weber |
| 847-860 | Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution | Patrizia Malaspina, Fulvio Cruciani, Bianca Maria Ciminelli, Luciano Terrenato, Piero Santolamazza, Antonio Alonso, Juraj Banyko, Radim Brdicka, Oscar García, Carlo Gaudiano, Ginevra Guanti, Kenneth K. Kidd, João Lavinha, Madalena Avila, Paola Mandich, Pedro Moral, Raheel Qamar, Syed Q. Mehdi, Angela Ragusa, Gheorghe Stefanescu, et al. | |
| 861-869 | Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination | Karl W. Broman, Jeffrey C. Murray, Val C. Sheffield, Raymond L. White, James L. Weber |
| 870-879 | The Power to Detect Linkage in Complex Disease by Means of Simple LOD-Score Analyses | David A. Greenberg, Paula Abreu, Susan E. Hodge |
| 880-888 | Optimal Ascertainment Strategies to Detect Linkage to Common Disease Alleles | Judith A. Badner, Elliot S. Gershon, Lynn R. Goldin |
| 889-897 | The Effect of Family Structure on Linkage Tests Using Allelic Association | J.C. Whittaker, C.M. Lewis |
| 898-899 | Familial Disclosure in Defiance of Nonconsent | Jon F. Merz, Mildred K. Cho, Pamela Sankar |
| 900 | Reply to Merz et al. | Bartha Maria Knoppers |
| 900-901 | LOD Scores, Location Scores, and X-Linked Cone Dystrophy | Chris F. Inglehearn |
| 901-905 | Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome | R.A. Veitia, M. Nunes, L. Quintana-Murci, R. Rappaport, E. Thibaud, F. Jaubert, M. Fellous, K. McElreavey, J. Gonçalves, M. Silva, J. Cidade Rodrigues, M. Caspurro, F. Boieiro, R. Marques, J. Lavinha |
| 905-908 | Molecular Analysis of 9p Deletions Associated with XY Sex Reversal: Refining the Localization of a Sex-Determining Gene to the Tip of the Chromosome | Silvana Guioli, Karin Schmitt, Ricky Critcher, Mark Bouzyk, Nigel K. Spurr, Tsutomu Ogata, Joe J. Hoo, Leonard Pinsky, Giorgio Gimelli, Linda Pasztor, Peter N. Goodfellow |
| 909-912 | Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome | Xue-Zhong Liu, Carolyn Hope, James Walsh, Valerie Newton, Xiao Mei Ke, Chuan Yu Liang, Li Ron Xu, Jiu Mu Zhou, Dorothy Trump, Karen P. Steel, Sarah Bundey, Steve D.M. Brown |
| 912-917 | Haplotype Analysis in Icelandic Families Defines a Minimal Interval for the Macular Corneal Dystrophy Type I Gene | Ning-Pu Liu, Jennifer Baldwin, Fridbert Jonasson, Susan Dew-Knight, Jeffrey M. Stajich, Felicia Lennon, Margaret A. Pericak-Vance, Gordon K. Klintworth, Jeffery M. Vance |
| 917-920 | Heterogeneity in World Distribution of the Thermolabile C677T Mutation in 5,10-Methylenetetrahydrofolate Reductase | G. Pepe, O. Camacho Vanegas, B. Giusti, T. Brunelli, R. Marcucci, M. Attanasio, O. Rickards, G.F. De Stefano, D. Prisco, G.F. Gensini, R. Abbate |
| 920-921 | NTBC and Alkaptonuria | Yair Anikster, William L. Nyhan, William A. Gahl |
| 921-926 | Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35 | Elise Héon, Sen Liu, Gail Billingsley, Ottavio Bernasconi, Cathy Tsifildis, Daniel F. Schorderet, Francis L. Munier |
| 927 | Genomic Imprinting | Peter A. Jones |
| 928-929 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 931-934 | Methods of Linkage Analysis—and the Assumptions Underlying Them | Robert C. Elston |
| 935-941 | Transmission Disequilibrium, Family Controls, and Great Expectations | Daniel J. Schaid |
| 942-946 | Complex Segregation Analyses: Uses and Limitations | Gail Pairitz Jarvik |
| 947-954 | Bayesian Linkage Analysis, or: How I Learned to Stop Worrying and Love the Posterior Probability of Linkage | Veronica J. Vieland |
| 955-961 | A Model of Elegance | Marian Walhout, Hideki Endoh, Nicolas Thierry-Mieg, Wendy Wong, Marc Vidal |
| 962-966 | Uniparental Disomies in Unselected Populations | Eric Engel |
| 967-975 | Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, | Claire Donger, Eric Krejci, Adolf Pou Serradell, Bruno Eymard, Suzanne Bon, Sophie Nicole, Danielle Chateau, Françoise Gary, Michel Fardeau, Jean Massoulié, Pascale Guicheney |
| 976-983 | A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic | Maria Veiga-da-Cunha, Isabelle Gerin, Yuan-Tsong Chen, Thierry de Barsy, Pascale de Lonlay, Carlo Dionisi-Vici, Christiane D. Fenske, Philip J. Lee, James V. Leonard, Irène Maire, Allyn McConkie-Rosell, Susanne Schweitzer, Miikka Vikkula, Emile Van Schaftingen |
| 984-991 | A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers | Wasim Ahmad, Alan D. Irvine, HaMut Lam, Colin Buckley, E. Ann Bingham, Andrei A. Panteleyev, Mahmud Ahmad, John A. McGrath, Angela M. Christiano |
| 992-1000 | Deletions in HOXD13 | Frances Goodman, Maria-Luisa Giovannucci-Uzielli, Christine Hall, William Reardon, Robin Winter, Peter Scambler |
| 1001-1008 | Methylation Levels at Selected CpG Sites in the Factor VIII and FGFR3 Genes, in Mature Female and Male Germ Cells: Implications for Male-Driven Evolution | Osman El-Maarri, Alexander Olek, Basak Balaban, Markus Montag, Hans van der Ven, Bulent Urman, Klaus Olek, S. Hande Caglayan, Jörn Walter, Johannes Oldenburg |
| 1009-1014 | Imprinted Expression of SNRPN | John Huntriss, Robert Daniels, Virginia Bolton, Marilyn Monk |
| 1015-1024 | Missense and Nonsense Mutations in the Lysosomal α-Mannosidase Gene (MANB) in Severe and Mild Forms of α-Mannosidosis | Yasuo Gotoda, Nobuaki Wakamatsu, Hisaomi Kawai, Yoshihiko Nishida, Toshio Matsumoto |
| 1025-1035 | An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects | Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher |
| 1036-1048 | Analysis of Mutations in the XPD | Elena Botta, Tiziana Nardo, Bernard C. Broughton, Stefano Marinoni, Alan R. Lehmann, Miria Stefanini |
| 1049-1059 | Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles | Francisco X. Arredondo-Vega, Ines Santisteban, Shannon Daniels, Stephan Toutain, Michael S. Hershfield |
| 1060-1066 | Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations | H. Takano, G. Cancel, T. Ikeuchi, D. Lorenzetti, R. Mawad, G. Stevanin, O. Didierjean, A. Dürr, M. Oyake, T. Shimohata, R. Sasaki, R. Koide, S. Igarashi, S. Hayashi, Y. Takiyama, M. Nishizawa, H. Tanaka, H. Zoghbi, A. Brice, S. Tsuji |
| 1067-1072 | Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin | J. Blanco, E. Gabau, D. Gómez, N. Baena, M. Guitart, J. Egozcue, F. Vidal |
| 1073-1077 | Homozygosity Mapping of a Gene Responsible for Gelatinous Drop–like Corneal Dystrophy to Chromosome 1p | Motokazu Tsujikawa, Hiroki Kurahashi, Toshihiro Tanaka, Masaki Okada, Syuji Yamamoto, Naoyuki Maeda, Hitoshi Watanabe, Yoshitsugu Inoue, Akira Kiridoshi, Kouki Matsumoto, Yuichi Ohashi, Shigeru Kinoshita, Yoshikazu Shimomura, Yusuke Nakamura, Yasuo Tano |
| 1078-1085 | Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene | Irma Järvelä, Nabil Sabri Enattah, Jorma Kokkonen, Teppo Varilo, Erkki Savilahti, Leena Peltonen |
| 1086-1094 | Familial Eosinophilia Maps to the Cytokine Gene Cluster on Human Chromosomal Region 5q31-q33 | John D. Rioux, Valerie A. Stone, Mark J. Daly, Michele Cargill, Todd Green, Huy Nguyen, Thomas Nutman, Peter A. Zimmerman, Margaret A. Tucker, Thomas Hudson, Alisa M. Goldstein, Eric Lander, Albert Y. Lin |
| 1095-1101 | A Gene for Meckel Syndrome Maps to Chromosome 11q13 | J. Roume, E. Genin, V. Cormier-Daire, H.W. Ma, B. Mehaye, T. Attie, F. Razavi-Encha, C. Fallet-Bianco, A. Buenerd, F. Clerget-Darpoux, A. Munnich, M. Le Merrer |
| 1102-1107 | Linkage Disequilibrium Mapping of the Gene for Margarita Island Ectodermal Dysplasia (ED4 | Koji Suzuki, Tania Bustos, Richard A. Spritz |
| 1108-1116 | Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 | H.A. Phillips, I.E. Scheffer, K.M. Crossland, K.P. Bhatia, D.R. Fish, C.D. Marsden, S.J.L. Howell, J.B.P. Stephenson, J. Tolmie, G. Plazzi, O. Eeg-Olofsson, R. Singh, I. Lopes-Cendes, E. Andermann, F. Andermann, S.F. Berkovic, J.C. Mulley |
| 1117-1129 | Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24 | G.C.Y. Fong, Pravina U. Shah, Manyee N. Gee, Jose M. Serratosa, Ignacio Pascual Castroviejo, Sonia Khan, Sangeeta H. Ravat, Jayanthi Mani, Y. Huang, H.Z. Zhao, Marco T. Medina, Lucy J. Treiman, Gregorio Pineda, Antonio V. Delgado-Escueta |
| 1130-1138 | An Autosomal Genomic Scan for Loci Linked to Type II Diabetes Mellitus and Body-Mass Index in Pima Indians | Robert L. Hanson, Margaret G. Ehm, David J. Pettitt, Michal Prochazka, D. Bruce Thompson, David Timberlake, Tatiana Foroud, Sayuko Kobes, Leslie Baier, Daniel K. Burns, Laura Almasy, John Blangero, W. Timothy Garvey, Peter H. Bennett, William C. Knowler |
| 1139-1152 | Support for a Chromosome 18p Locus Conferring Susceptibility to Functional Psychoses in Families with Schizophrenia, by Association and Linkage Analysis | Sibylle G. Schwab, Joachim Hallmayer, Bernard Lerer, Margot Albus, Margitta Borrmann, Sabine Hönig, Marcel Strauß, Ronnen Segman, Dirk Lichtermann, Michael Knapp, Matyas Trixler, Wolfgang Maier, Dieter B. Wildenauer |
| 1153-1159 | A Chromosomal Deletion Map of Human Malformations | Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick |
| 1160-1174 | Prenatal Screening for Cystic Fibrosis Carriers: An Economic Evaluation | Peter T. Rowley, Starlene Loader, Robert M. Kaplan |
| 1175-1180 | Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness | Anna Middleton, J. Hewison, R.F. Mueller |
| 1181-1189 | Mixed Messages: Presentation of Information in Cystic Fibrosis–Screening Pamphlets | Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond |
| 1190-1201 | Multiple Phenotype Modeling in Gene-Mapping Studies of Quantitative Traits: Power Advantages | David B. Allison, Bonnie Thiel, Pamela St. Jean, Robert C. Elston, Ming C. Infante, Nicholas J. Schork |
| 1202-1215 | Ascertainment Corrections Based on Smaller Family Units | George Ebow Bonney |
| 1216-1220 | Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects | L. Leigh Field, Rose Tobias, Wendy P. Robinson, Richard Paisey, Stephen Bain |
| 1220-1224 | Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy | Neil Howell, David A. Mackey |
| 1224-1227 | Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes | Eitan Friedman, Revital Bar-sade Bruchim, Anna Kruglikova, Shulamit Risel, Ephrat Levy-Lahad, David Halle, Elchanan Bar-On, Ruth Gershoni-Baruch, Ephrat Dagan, Ilana Kepten, Tamar Peretz, Israela Lerer, Naomi Wienberg, Asher Shushan, Dvorah Abeliovich |
| 1227-1232 | Partial Triplication of mtDNA in Maternally Transmitted Diabetes Mellitus and Deafness | Marie-Laure Martin Negrier, Michelle Coquet, Brigitte Teissier Moretto, Jean-Yves Lacut, Michel Dupon, Bertrand Bloch, Patrick Lestienne, Claude Vital |
| 1232-1234 | Reply to Inglehearn | A.A.B. Bergen, A.J.L.G. Pinckers |
| 1234-1236 | mtDNA Suggests Polynesian Origins in Eastern Indonesia | Martin Richards, Stephen Oppenheimer, Bryan Sykes |
| 1237-1240 | On the Probability of Neanderthal Ancestry | Magnus Nordborg |
| 1240-1242 | Do Human Chromosomal Bands 16p13 and 22q11-13 Share Ancestral Origins? | Rachel H. Giles, Hans G. Dauwerse, Gert-Jan B. van Ommen, Martijn H. Breuning |
| 1243-1245 | How Sib Pairs Reveal Linkage | Eugene Drigalenko |
| 1245-1246 | Allele Identical by Descent Sharing at Any Point of a Chromosome of a Sib Pair | Eugene Drigalenko |
| 1248-1251 | Announcements | |
| 1252 | Erratum | |
| 1252 | Erratum | |
| 1252 | Erratum | |
| 1252 | Erratum | |
| 1252 | Erratum | |
| 1253-1255 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1257-1262 | New Aspects of an Old Theme: The Genetic Basis of Human Color Vision | Bernd Wissinger, Lindsay T. Sharpe |
| 1263-1270 | Development and Maintenance of Ear Innervation and Function: Lessons from Mutations in Mouse and Man | Bernd Fritzsch, Kirk Beisel |
| 1271-1276 | 6-n | Beverly J. Tepper |
| 1277-1281 | A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome | Elaine H. Zackai, Catherine A. Stolle |
| 1282-1293 | A Comprehensive Screen for TWIST | David Johnson, Sharon W. Horsley, Dominique M. Moloney, Michael Oldridge, Stephen R.F. Twigg, Sinead Walsh, Margaret Barrow, Pål R. Njølstad, Jürgen Kunz, Geraldine J. Ashworth, Steven A. Wall, Lyndal Kearney, Andrew O.M. Wilkie |
| 1294-1306 | Phenotype-Genotype Relationships in Complementation Group 3 of the Peroxisome-Biogenesis Disorders | Chia-Che Chang, Stephen J. Gould |
| 1307-1315 | A Range of Clinical Phenotypes Associated with Mutations in CRX, | Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, David Birch, John R. Heckenlively, Carol L. Freund, Roderick R. McInnes, Stephen P. Daiger |
| 1316-1328 | Mutations of the Forkhead/Winged-Helix Gene, FKHL7, | Alan J. Mears, Tim Jordan, Farideh Mirzayans, Stéphane Dubois, Tsutomu Kume, Michael Parlee, Robert Ritch, Benjamin Koop, Wen-Lin Kuo, Colin Collins, Jody Marshall, Douglas B. Gould, William Pearce, Peter Carlsson, Sven Enerbäck, Jean Morissette, Shomi Bhattacharya, Brigid Hogan, Vincent Raymond, Michael A. Walter |
| 1329-1340 | Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome | Eileen Boye, Géraldine Mollet, Lionel Forestier, Lola Cohen-Solal, Laurence Heidet, Pierre Cochat, Jean-Pierre Grünfeld, Jean-Bernard Palcoux, Marie-Claire Gubler, Corinne Antignac |
| 1341-1351 | Founder BRCA1 | Patricia N. Tonin, Anne-Marie Mes-Masson, P. Andrew Futreal, Kenneth Morgan, Michelle Mahon, William D. Foulkes, David E.C. Cole, Diane Provencher, Parviz Ghadirian, Steven A. Narod |
| 1352-1362 | CTNS | Vorasuk Shotelersuk, David Larson, Yair Anikster, Geraldine McDowell, Rosemary Lemons, Isa Bernardini, Juanru Guo, Jess Thoene, William A. Gahl |
| 1363-1375 | Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles | Manuel Mendez, Lonnie Sorkin, Maria Victoria Rossetti, Kenneth H. Astrin, Alcira M. del C. Batlle, Victoria E. Parera, Gerardo Aizencang, Robert J. Desnick |
| 1376-1387 | Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense | Leena Pulkkinen, Fatima Rouan, Leena Bruckner-Tuderman, Robert Wallerstein, Maria Garzon, Tod Brown, Lynne Smith, William Carter, Jouni Uitto |
| 1388-1395 | Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity | Peter Gustavsson, Emanuela Garelli, Natalia Draptchinskaia, Sarah Ball, Thiébaut-Noël Willig, Dimitri Tentler, Irma Dianzani, Hope H. Punnett, Frank E. Shafer, Holger Cario, Ugo Ramenghi, Anders Glomstein, Rudolf A. Pfeiffer, Andy Goringe, Nancy F. Olivieri, Elizabeth Smibert, Gil Tchernia, Göran Elinder, Niklas Dahl |
| 1396-1403 | Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37 | Ilona Visapää, Vineta Fellman, Teppo Varilo, Aarno Palotie, Kari O. Raivio, Leena Peltonen |
| 1404-1410 | A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping | Neena B. Haider, Rivka Carmi, Hana Shalev, Val C. Sheffield, Daniel Landau |
| 1411-1418 | Autosomal Dominant Nanophthalmos (NNO1 | M.I. Othman, S.A. Sullivan, G.L. Skuta, D.A. Cockrell, H.M. Stringham, C.A. Downs, A. Fornés, A. Mick, M. Boehnke, D. Vollrath, J.E. Richards |
| 1419-1424 | A Second Locus for Familial High Myopia Maps to Chromosome 12q | Terri L. Young, Shawn M. Ronan, Alison B. Alvear, Scott C. Wildenberg, William S. Oetting, Larry D. Atwood, Douglas J. Wilkin, Richard A. King |
| 1425-1430 | Autosomal Dominant Orthostatic Hypotensive Disorder Maps to Chromosome 18q | Anita L. DeStefano, Clinton T. Baldwin, Michael Burzstyn, Irene Gavras, Diane E. Handy, Oscar Joost, Timothy Martel, Michael Nicolaou, Faina Schwartz, David H.P. Streeten, Lindsay A. Farrer, Haralambos Gavras |
| 1431-1438 | A Huntington Disease–Like Neurodegenerative Disorder Maps to Chromosome 20p | Fengqing Xiang, Elisabeth W. Almqvist, Mahbubul Huq, Anders Lundin, Michael R. Hayden, Lars Edström, Maria Anvret, Zhiping Zhang |
| 1439-1447 | A Novel Locus (RP24 | Linn Gieser, Ricardo Fujita, Harald H.H. Göring, Jurg Ott, Dennis R. Hoffman, Artur V. Cideciyan, David G. Birch, Samuel G. Jacobson, Anand Swaroop |
| 1448-1456 | Absence of Linkage of Phonological Coding Dyslexia to Chromosome 6p23-p21.3 in a Large Family Data Set | L.L. Field, B.J. Kaplan |
| 1457-1463 | X Chromosome Inactivation in Carriers of Barth Syndrome | Karen Helene Ørstavik, Ragnhild E. Ørstavik, Anna K. Naumova, Patrizia D'Adamo, Agi Gedeon, Pieter A. Bolhuis, Peter G. Barth, Daniela Toniolo |
| 1464-1472 | Age-Dependent Inclusion of Sex Chromosomes in Lymphocyte Micronuclei of Man | J. Catalán, K. Autio, E. Kuosma, H. Norppa |
| 1473-1491 | mtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World | Yelena B. Starikovskaya, Rem I. Sukernik, Theodore G. Schurr, Andreas M. Kogelnik, Douglas C. Wallace |
| 1492-1506 | Use of Parents, Sibs, and Unrelated Controls for Detection of Associations between Genetic Markers and Disease | Daniel J. Schaid, Charles Rowland |
| 1507-1516 | A Comparative Study of Sibship Tests of Linkage and/or Association | S.A. Monks, N.L. Kaplan, B.S. Weir |
| 1517-1530 | Disequilibrium Likelihoods for Fine-Scale Mapping of a Rare Allele | Jinko Graham, Elizabeth A. Thompson |
| 1541-1543 | Measurement and Use of Total Plasma Homocysteine | American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee Working Group |
| 1544-1549 | A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 | Bin T. Teh, Christopher T. Esapa, Richard Houlston, Ulla Grandell, Filip Farnebo, Magnus Nordenskjöld, Christopher J. Pearce, David Carmichael, Catharina Larsson, Philip E. Harris |
| 1549-1552 | Prevalence of Mutations in TIGR/Myocilin in Patients with Adult and Juvenile Primary Open-Angle Glaucoma | Janey L. Wiggs, R. Rand Allingham, Douglas Vollrath, Katherine H. Jones, Monica De La Paz, Jeremy Kern, Kara Patterson, Virna L. Babb, Elizabeth A. Del Bono, Bob W. Broomer, Margaret A. Pericak-Vance, Jonathan L. Haines |
| 1552-1557 | Rett Syndrome: Confirmation of X-Linked Dominant Inheritance, and Localization of the Gene to Xq28 | Nicky Sirianni, SakkuBai Naidu, Joseluiz Pereira, Rui Fernando Pillotto, Eric P. Hoffman |
| 1558-1559 | Marshall Syndrome and a Defect at the COL11A1 Locus | Alan Shanske, Anna Bogdanow, Robert J. Shprintzen, Robert W. Marion |
| 1559-1561 | Reply to Shanske et al. | M.L. Warman, G.E. Tiller, A.J. Griffith |
| 1561-1563 | Prenatal Diagnosis and Carrier Detection for a Point Mutation in UBE3A | Ting-Fen Tsai, Annick Raas-Rothschild, Ziva Ben-Neriah, Arthur L. Beaudet |
| 1563 | Estimation of Pairwise Relationships in the Presence of Genotyping Errors | Karl W. Broman, James L. Weber |
| 1565 | Gene Therapy Protocols | Karen Kozarsky |
| 1566 | The Origins of Native Americans: Evidence from Anthropological Genetics | Theodore G. Schurr |
| 1566 | Molecular Diagnostics for the Clinical Laboratorian | Jonathan F. Tait |
| 1567 | Mitochondria and Free Radicals in Neurodegenerative Diseases | Russell H. Swerdlow |
| 1568-1570 | Announcements | |
| 1571 | Erratum | |
| 1531-1540 | Detecting Marker-Disease Association by Testing for Hardy-Weinberg Disequilibrium at a Marker Locus | Dahlia M. Nielsen, M.G. Ehm, B.S. Weir |
| i-ii | This Month in the Journal | John Ashkenas |
| 1573-1577 | Flexing DNA: HMG-Box Proteins and Their Partners | Marco E. Bianchi, Monica Beltrame |
| 1578-1587 | Molecular Genetics of the Caveolin Gene Family: Implications for Human Cancers, Diabetes, Alzheimer Disease, and Muscular Dystrophy | Jeffrey A. Engelman, XiaoLan Zhang, Ferruccio Galbiati, Daniela Volonté, Federica Sotgia, Richard G. Pestell, Carlo Minetti, Philipp E. Scherer, Takashi Okamoto, Michael P. Lisanti |
| 1588-1593 | The Tumor-Suppressor Function of E-Cadherin | Henrik Semb, Gerhard Christofori |
| 1594-1597 | Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome | Hans-Henrik M. Dahl |
| 1598-1608 | The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome | Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke, Rob Sengers, Frans Trijbels, Ben Hamel, Renier Mullaart, Lambert van den Heuvel |
| 1609-1621 | Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c | Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo, Claudia Galimberti, Monica Munaro, Matteo Granatiero, Leopoldo Zelante, Paolo Gasparini, Rosalia Marzella, Mariano Rocchi, M. Pilar Bayona-Bafaluy, Josè-Antonio Enriquez, Graziella Uziel, Enrico Bertini, Carlo Dionisi-Vici, Brunella Franco, Thomas Meitinger, Massimo Zeviani |
| 1622-1630 | Mutation in PEX16 | Masanori Honsho, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki |
| 1631-1640 | Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations | Sylvie Jacquot, Karine Merienne, Dario De Cesare, Solange Pannetier, Jean-Louis Mandel, Paolo Sassone-Corsi, André Hanauer |
| 1641-1650 | Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity | Hamid Mehenni, Corinne Gehrig, Jun-ichi Nezu, Asuka Oku, Miyuki Shimane, Colette Rossier, Nicolas Guex, Jean-Louis Blouin, Hamish S. Scott, Stylianos E. Antonarakis |
| 1651-1658 | Mutation Analysis of LMX1B | Iain McIntosh, Sandra D. Dreyer, Mark V. Clough, Jennifer A. Dunston, Wafa'a Eyaid, Carmen M. Roig, Tara Montgomery, Sirpa Ala-Mello, Ilkka Kaitila, Andreas Winterpacht, Bernhard Zabel, Moshe Frydman, William G. Cole, Clair A. Francomano, Brendan Lee |
| 1659-1662 | Mutation of the Type X Collagen Gene (COL10A1 | Shiro Ikegawa, Gen Nishimura, Toshiro Nagai, Tomonobu Hasegawa, Hirofumi Ohashi, Yusuke Nakamura |
| 1663-1674 | Functional Characterization of Missense Mutations in ATP7B: | John R. Forbes, Diane W. Cox |
| 1675-1684 | A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1 | Simon H.S. Pearce, Tim Cheetham, Helen Imrie, Bijayeswar Vaidya, Nicholas D. Barnes, Rudolf W. Bilous, David Carr, Karim Meeran, Nicholas J. Shaw, Colin S. Smith, Anthony D. Toft, Gareth Williams, Pat Kendall-Taylor |
| 1685-1693 | The Ashkenazic Jewish Bloom Syndrome Mutation blm | Nathan A. Ellis, Susan Ciocci, Maria Proytcheva, David Lennon, Joanna Groden, James German |
| 1694-1702 | Genetics of Vitamin D 1α-Hydroxylase Deficiency in 17 Families | Jonathan T. Wang, Chin-Jia Lin, Sandra M. Burridge, Glenn K. Fu, Malgorzata Labuda, Anthony A. Portale, Walter L. Miller |
| 1703-1711 | Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome | Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull, Bruce D. Gelb, Maureen Johnson, Iain McIntosh, Clair A. Francomano, Harry C. Dietz |
| 1712-1723 | Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number | D.W. Parsons, P.E. McAndrew, S.T. Iannaccone, J.R. Mendell, A.H.M. Burghes, T.W. Prior |
| 1724-1731 | The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster | Martin Vollmer, Martin Jung, Franz Rüschendorf, Rainer Ruf, Thomas Wienker, André Reis, Reto Krapf, Friedhelm Hildebrandt |
| 1732-1742 | Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31 | Howard Feit, Alice Silbergleit, Lori B. Schneider, Jorge A. Gutierrez, Reine-Paule Fitoussi, Cécile Réyès, Guy A. Rouleau, Bernard Brais, Charles E. Jackson, Jacques S. Beckmann, Eric Seboun |
| 1743-1748 | A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2 | Federico Canzian, Patrizia Amati, H. Rubén Harach, Jean-Louis Kraimps, Fabienne Lesueur, Jacques Barbier, Pierre Levillain, Giovanni Romeo, Dominique Bonneau |
| 1749-1756 | A New Graves Disease–Susceptibility Locus Maps To Chromosome 20q11.2 | Yaron Tomer, Giuseppe Barbesino, David A. Greenberg, Erlinda Concepcion, Terry F. Davies and International Consortium for the Genetics of Autoimmune Thyroid Disease |
| 1757-1766 | Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1 | Andrew R. Zinn, Vijay S. Tonk, Zhong Chen, Wendy L. Flejter, H. Allen Gardner, Rudy Guerra, Harvey Kushner, Stuart Schwartz, Virginia P. Sybert, Daniel L. Van Dyke, Judith L. Ross |
| 1767-1776 | Association and Linkage of the Dopamine Transporter Gene and Attention-Deficit Hyperactivity Disorder in Children: Heterogeneity owing to Diagnostic Subtype and Severity | I.D. Waldman, D.C. Rowe, A. Abramowitz, S.T. Kozel, J.H. Mohr, S.L. Sherman, H.H. Cleveland, M.L. Sanders, J.M.C. Gard, C. Stever |
| 1777-1782 | Search for a Founder Mutation in Idiopathic Focal Dystonia from Northern Germany | Christine Klein, Laurie J. Ozelius, Johann Hagenah, Xandra O. Breakefield, Neil J. Risch, Peter Vieregge |
| 1783-1792 | Strategies for Rare-Event Detection: An Approach for Automated Fetal Cell Detection in Maternal Blood | Jan C. Oosterwijk, Cecile F.H.M. Knepflé, Wilma E. Mesker, Hans Vrolijk, Willem C.R. Sloos, Hans Pattenier, Ilya Ravkin, Gert-Jan B. van Ommen, Humphrey H.H. Kanhai, Hans J. Tanke |
| 1793-1806 | European Y-Chromosomal Lineages in Polynesians: A Contrast to the Population Structure Revealed by mtDNA | Matthew E. Hurles, Catherine Irven, Jayne Nicholson, Paul G. Taylor, Fabricio R. Santos, John Loughlin, Mark A. Jobling, Bryan C. Sykes |
| 1807-1823 | Genetic Evidence for the Proto-Austronesian Homeland in Asia: mtDNA and Nuclear DNA Variation in Taiwanese Aboriginal Tribes | Terry Melton, Stephanie Clifford, Jeremy Martinson, Mark Batzer, Mark Stoneking |
| 1824-1838 | Trading Genes along the Silk Road: mtDNA Sequences and the Origin of Central Asian Populations | David Comas, Francesc Calafell, Eva Mateu, Anna Pérez-Lezaun, Elena Bosch, Rosa Martínez-Arias, Jordi Clarimon, Fiorenzo Facchini, Giovanni Fiori, Donata Luiselli, Davide Pettener, Jaume Bertranpetit |
| 1839-1851 | Estimating African American Admixture Proportions by Use of Population-Specific Alleles | Esteban J. Parra, Amy Marcini, Joshua Akey, Jeremy Martinson, Mark A. Batzer, Richard Cooper, Terrence Forrester, David B. Allison, Ranjan Deka, Robert E. Ferrell, Mark D. Shriver |
| 1852-1861 | mtDNA Haplogroup X: An Ancient Link between Europe/Western Asia and North America? | Michael D. Brown, Seyed H. Hosseini, Antonio Torroni, Hans-Jürgen Bandelt, Jon C. Allen, Theodore G. Schurr, Rosaria Scozzari, Fulvio Cruciani, Douglas C. Wallace |
| 1862-1871 | Characterization of Ancestral and Derived Y-Chromosome Haplotypes of New World Native Populations | Néstor O. Bianchi, Cecilia I. Catanesi, Graciela Bailliet, Verónica L. Martinez-Marignac, Claudio M. Bravi, Lidia B. Vidal-Rioja, René J. Herrera, Jorge S. López-Camelo |
| 1872-1885 | Genome Screens Using Linkage Disequilibrium Tests: Optimal Marker Characteristics and Feasibility | Nicola H. Chapman, Ellen M. Wijsman |
| 1886-1897 | A Discordant-Sibship Test for Disequilibrium and Linkage: No Need for Parental Data | Steve Horvath, Nan M. Laird |
| 1898-1903, 1904-1906 | Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts | Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Atsushi Imamura, Naomi Kondo, Naohiko Kinoshita, Yukio Fujiki, Toshiro Tsukamoto, Takashi Osumi, Tsuneo Imanaka, Tadao Orii, Frits Beemer, Petra Mooijer, Conny Dekker, Ronald J.A. Wanders |
| 1903-1907 | Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis | Francis L. Munier, Francine Thonney, Anne Girardet, Aubin Balmer, Mireille Claustre, Frank Pellestor, Alfred Senn, Graziano Pescia, Daniel F. Schorderet |
| 1908-1910 | Genetic Counseling and Prenatal Diagnosis for mtDNA Disease | Patrick F. Chinnery, Neil Howell, Robert N. Lightowlers, Douglass M. Turnbull |
| 1910-1911 | Reply to Chinnery et al. | Joanna Poulton, David Marchington |
| 1912-1915 | Molecular Cytogenetic Detection of Confined Gonadal Mosaicism in a Conceptus with Trisomy 16 Placental Mosaicism | Dimitrios J. Stavropoulos, David Bick, Dagmar K. Kalousek |
| 1915 | The Sib Transmission/Disequilibrium Test is a Mantel-Haenszel Test | Nan M. Laird, Deborah Blacker, Marsha Wilcox |
| 1915 | Reply to Laird et al. | Warren J. Ewens, Richard S. Spielman |
| 1920 | Genetic Disorders and Pregnancy Outcome | Dagmar K. Kalousek |
| 1920 | Clinical Cancer Genetics: Risk Counseling and Management | Katherine A. Schneider |
| 1921 | Genetic Instabilities and Hereditary Neurological Diseases | Puneet Opal, Henry Paulson |
| 1922-1924 | Announcements | |
| 1925-1930 | Editorial Reviewers for 1998 | |
| 1931-1941 | Author Index for Volume 63 | |
| 1942-1950 | Subject Index for Volume 63 | |
| i-ii | This Month in the Journal | John Ashkenas |
| iii | New Editor of The American Journal of Human Genetics | |
| 1-13 | Making Genomic Medicine a Reality | Arthur L. Beaudet |
| 14-15 | Professor Ching Chun Li, Courageous Scholar and Educator | Aravinda Chakravarti |
| 16-17 | Remarks on Receiving the ASHG Award: Science and Science Education | C.C. Li |
| 18-23 | When Less Is More: Gene Loss as an Engine of Evolutionary Change | Maynard V. Olson |
| 24-30 | Concerted Evolution: Molecular Mechanism and Biological Implications | Daiqing Liao |
| 31-39 | The Genomic Record of Humankind's Evolutionary Roots | Morris Goodman |
| 40-45 | Mice and the Role of Unequal Recombination in Gene-Family Evolution | John C. Schimenti |
| 46-50 | Multiple ATM-Dependent Pathways: An Explanation for Pleiotropy | Kevin D. Brown, Carrolee Barlow, Anthony Wynshaw-Boris |
| 51-61 | Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations | Ulla Lenkkeri, Minna Männikkö, Paula McCready, Jane Lamerdin, Olivier Gribouval, Patrick Niaudet, Corinne Antignac, Clifford E. Kashtan, Christer Holmberg, Anne Olsen, Marjo Kestilä, Karl Tryggvason |
| 62-69 | LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis | Yoav Segal, Bernard Peissel, Alessandra Renieri, Mario de Marchi, Andrea Ballabio, York Pei, Jing Zhou |
| 70-76 | Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene | C.D. Kuslich, J.A. Kobori, G. Mohapatra, C. Gregorio-King, T.A. Donlon |
| 77-88 | Spectrum of Mutations in α-Mannosidosis | Thomas Berg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Lisbeth Tranebjærg, Ole Kristian Tollersrud, Øivind Nilssen |
| 89-98 | Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia | A. Ducros, C. Denier, A. Joutel, K. Vahedi, A. Michel, F. Darcel, M. Madigand, D. Guerouaou, F. Tison, J. Julien, E. Hirsch, F. Chedru, C. Bisgård, G. Lucotte, P. Després, C. Billard, M.A. Barthez, G. Ponsot, M.G. Bousser, E. Tournier-Lasserve |
| 99-107 | Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis | E.G. van Grunsven, E. van Berkel, P.A.W. Mooijer, P.A. Watkins, H.W. Moser, Y. Suzuki, L.L. Jiang, T. Hashimoto, G. Hoefler, J. Adamski, R.J.A. Wanders |
| 108-117 | Rhmod | C.-H. Huang, G.-J. Cheng, M.E. Reid, Y. Chen |
| 118-125 | Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes | Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff-Smith, Martin J. Carette, Julia Grant, Nick Dennis, W. Reardon, Miranda Splitt, Andrew P. Read, Dian Donnai |
| 126-135 | Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping | Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki |
| 136-145 | Refinement of the Chromosome 5p Locus for Familial Calcium Pyrophosphate Dihydrate Deposition Disease | L.J. Andrew, V. Brancolini, L. Serrano de la Pena, M. Devoto, F. Caeiro, R. Marchegiani, A. Reginato, A. Gaucher, P. Netter, P. Gillet, D. Loeuille, D.J. Prockop, A. Carr, B.F. Wordsworth, M. Lathrop, S. Butcher, E. Considine, K. Everts, A. Nicod, S. Walsh, et al. | |
| 146-156 | A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia | Simon E. Fisher, Angela J. Marlow, Janine Lamb, Elena Maestrini, Dianne F. Williams, Alex J. Richardson, Daniel E. Weeks, John F. Stein, Anthony P. Monaco |
| 157-164 | Quantitative-Trait Locus for Specific Language and Reading Deficits on Chromosome 6p | Javier Gayán, Shelley D. Smith, Stacey S. Cherny, Lon R. Cardon, David W. Fulker, Amy M. Brower, Richard K. Olson, Bruce F. Pennington, John C. DeFries |
| 165-171 | Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping | Mina Ohadi, Michel R.A. Lalloz, Pak Sham, Jinghua Zhao, Andrew M. Dearlove, Caroline Shiach, Sally Kinsey, Michael Rhodes, D. Mark Layton |
| 172-179 | Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity | Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist, Jean-Louis Stéphan, Gérard Souillet, Marrie Bruin, Etienne Vilmer, Marion Schneider, Gritta Janka, Alain Fischer, Geneviève de Saint Basile |
| 180-188 | Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23 | Iwan C. Meij, Kathrin Saar, Lambert P.W.J. van den Heuvel, Gudrun Nuernberg, Martin Vollmer, Friedhelm Hildebrandt, André Reis, Leo A.H. Monnens, Nine V.A.M. Knoers |
| 189-195 | Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk | Sarah E. Lloyd, Anna A.J. Pannett, Peter H. Dixon, Michael P. Whyte, Rajesh V. Thakker |
| 196-209 | Genome Scan for Human Obesity and Linkage to Markers in 20q13 | Joseph H. Lee, Danielle R. Reed, Wei-Dong Li, Weizhen Xu, Eun-Jeong Joo, Robin L. Kilker, Elizabeth Nanthakumar, Michael North, Hakan Sakul, Callum Bell, R. Arlen Price |
| 210-217 | A Comprehensive Linkage Analysis of Chromosome 21q22 Supports Prior Evidence for a Putative Bipolar Affective Disorder Locus | Vincent M. Aita, Jianjun Liu, James A. Knowles, Joseph D. Terwilliger, Romulo Baltazar, Adina Grunn, Jo Ellen Loth, Kyra Kanyas, Bernard Lerer, Jean Endicott, Zhenyuan Wang, Graciela Penchaszadeh, T. Conrad Gilliam, Miron Baron |
| 218-224 | Rapid Clearance of Fetal DNA from Maternal Plasma | Y. M. Dennis Lo, Jun Zhang, Tse N. Leung, Tze K. Lau, Allan M.Z. Chang, N. Magnus Hjelm |
| 225-231 | Inbreeding Effects on Fertility in Humans: Evidence for Reproductive Compensation | Carole Ober, Terry Hyslop, Walter W. Hauck |
| 232-249 | The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs | Vincent Macaulay, Martin Richards, Eileen Hickey, Emilce Vega, Fulvio Cruciani, Valentina Guida, Rosaria Scozzari, Batsheva Bonné-Tamir, Bryan Sykes, Antonio Torroni |
| 250-258 | Molecular Genetic Analysis of Remains of a 2,000-Year-Old Human Population in China—and Its Relevance for the Origin of the Modern Japanese Population | Hiroki Oota, Naruya Saitou, Takayuki Matsushita, Shintaroh Ueda |
| 259-267 | Combined Linkage and Association Sib-Pair Analysis for Quantitative Traits | D.W. Fulker, S.S. Cherny, P.C. Sham, J.K. Hewitt |
| 268-280 | A Simulation Study of the Effects of Assignment of Prior Identity-by-Descent Probabilities to Unselected Sib Pairs, in Covariance-Structure Modeling of a Quantitative-Trait Locus | Conor V. Dolan, Dorret I. Boomsma, Michael C. Neale |
| 281-289 | Further Evidence for the Increased Power of LOD Scores Compared with Nonparametric Methods | Martina Durner, Veronica J. Vieland, David A. Greenberg |
| 290-292 | The Glu318Gly Substitution in Presenilin 1 Is Not Causally Related to Alzheimer Disease | Bart Dermaut, Marc Cruts, Arjen J.C. Slooter, Sofie Van Gestel, Chris De Jonghe, Hugo Vanderstichele, Eugeen Vanmechelen, Monique M. Breteler, Albert Hofman, Cornelia M. van Duijn, Christine Van Broeckhoven |
| 292-294 | p53 Variants Predisposing to Cancer Are Present in Healthy Centenarians | Massimiliano Bonafè, Fabiola Olivieri, Daniela Mari, Giovannella Baggio, Rosario Mattace, Paolo Sansoni, Giovanna De Benedictis, Maria De Luca, Stefano Bertolini, Cristiana Barbi, Daniela Monti, Claudio Franceschi |
| 295-300 | Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation | Filippo M. Santorelli, Kurenai Tanji, Panagiota Manta, Carlo Casali, Sindu Krishna, Arthur P. Hays, Donna M. Mancini, Salvatore DiMauro, Michio Hirano |
| 300-302 | An Alu | Nadine Puget, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Carole Audoynaud, Sabine Pagès, Henry T. Lynch, David Goldgar, Gilbert M. Lenoir, Sylvie Mazoyer |
| 303-304 | Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride | C. Castellani, M.G. Benetazzo, A. Bonizzato, P.F. Pignatti, G. Mastella |
| 304-307 | A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | Robert M.W. Hofstra, Olivier Valdenaire, Ellen Arch, Jan Osinga, Hester Kroes, Bernd-Michael Löffler, Ada Hamosh, Carel Meijers, Charles H.C.M. Buys |
| 308-310 | Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN | Keisuke Kurose, Tsutomu Araki, Tsuyoshi Matsunaka, Yasuharu Takada, Mitsuru Emi |
| 310-313 | Failure to Detect Linkage of Preeclampsia to the Region of the NOS3 | Ian Lewis, Guus Lachmeijer, Sarah Downing, Gustaaf Dekker, Clive Glazebrook, David Clayton, Nick H. Morris, Kevin M. O'Shaughnessy |
| 313-317 | Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia | Michal Witt, Yue-fen Wang, Shengbiao Wang, Cui-e Sun, Jacek Pawlik, Ewa Rutkiewicz, Jerzy Zebrak, Scott R. Diehl |
| 318-323 | A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration | Anil K. Lalwani, William M. Luxford, Anand N. Mhatre, Ali Attaie, Edward R. Wilcox, Caley M. Castelein |
| 323-325 | Two Novel Single–Base-Pair Substitutions Adjacent to the CAG Repeat in the Huntington Disease Gene (IT15): Implications for Diagnostic Testing | Russell L. Margolis, O. Colin Stine, Colleen Callahan, Adam Rosenblatt, Margaret H. Abbott, Meeia Sherr, Christopher A. Ross |
| 326-328 | The Interpretation of the Parameters in the Transmission/Disequilibrium Test | Hongyu Zhao |
| 328 | Cancer Genetics and Insurance | M.F. Niermeijer |
| 329 | Reply to Niermeijer | Miguel A. Rodriguez-Bigas, Mary-Jo T. Rosenblatt, Carolyn Farrell |
| 330 | Organelle Diseases | Michael G. Hanna |
| 331-333 | Announcements | |
| 334 | Erratum | |
| 334 | Erratum | |
| 334 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 335-338 | Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom: Board of Directors of the American Society of Human Genetics | Philip R. Reilly |
| 339-345 | Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold | Henry L. Paulson |
| 346-353 | Biological Implications of the DNA Structures Associated with Disease-Causing Triplet Repeats | Richard R. Sinden |
| 354-359 | Fragile Sites—Cytogenetic Similarity with Molecular Diversity | Grant R. Sutherland, Robert I. Richards |
| 360-364 | Myotonic Dystrophy: The Role of RNA CUG Triplet Repeats | Lubov T. Timchenko |
| 365-371 | The Yeast Connection to Friedreich Ataxia | Simon A.B. Knight, Roy Kim, Debkumar Pain, Andrew Dancis |
| 372-377 | Overgrowth Syndromes and the Regulation of Signaling Complexes by Proteoglycans | Scott B. Selleck |
| 378-384 | Inherited Colorectal Polyposis and Cancer Risk of the APC I1307K | Robert Gryfe, Nando Di Nicola, Geeta Lal, Steven Gallinger, Mark Redston |
| 385-396 | Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation | T. Ohta, K. Buiting, H. Kokkonen, S. McCandless, S. Heeger, H. Leisti, D.J. Driscoll, S.B. Cassidy, B. Horsthemke, R.D. Nicholls |
| 397-413 | Imprinting-Mutation Mechanisms in Prader-Willi Syndrome | T. Ohta, T.A. Gray, P.K. Rogan, K. Buiting, J.M. Gabriel, S. Saitoh, B. Muralidhar, B. Bilienska, M. Krajewska-Walasek, D.J. Driscoll, B. Horsthemke, M.G. Butler, R.D. Nicholls |
| 414-421 | High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands | Patrizia Rizzu, John C. Van Swieten, Marijke Joosse, Masato Hasegawa, Martijn Stevens, Aad Tibben, Martinus F. Niermeijer, Marcel Hillebrand, Rivka Ravid, Ben A. Oostra, Michel Goedert, Cornelia M. van Duijn, Peter Heutink |
| 422-434 | Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, | Richard Alan Lewis, Noah F. Shroyer, Nanda Singh, Rando Allikmets, Amy Hutchinson, Yixin Li, James R. Lupski, Mark Leppert, Michael Dean |
| 435-445 | Molecular Analysis of SALL1 | Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, Bill Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, Petra Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J. Kirkpatrick, Richard M. Pauli, David S. Wargowski, Koen Devriendt, Willem Proesmans, Orazio Gabrielli, Giovanni V. Coppa, Eveline Wesby–van Swaay, Richard C. Trembath, et al. | |
| 446-461 | De Novo Alu | Michael Oldridge, Elaine H. Zackai, Donna M. McDonald-McGinn, Sachiko Iseki, Gillian M. Morriss-Kay, Stephen R.F. Twigg, David Johnson, Steven A. Wall, Wen Jiang, Christiane Theda, Ethylin Wang Jabs, Andrew O.M. Wilkie |
| 462-470 | Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia | Travis M. Wohlers, Nicole C. Christacos, Michelle T. Harreman, Judith L. Fridovich-Keil |
| 471-478 | DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome | Lorraine Potocki, Ken-Shiung Chen, Thearith Koeuth, James Killian, Susan T. Iannaccone, Stuart K. Shapira, Catherine D. Kashork, Aimee S. Spikes, Lisa G. Shaffer, James R. Lupski |
| 479-494 | Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency | Brage Storstein Andresen, Simon Olpin, Ben J.H.M. Poorthuis, Hans R. Scholte, Christine Vianey-Saban, Ronald Wanders, Lodewijk Ijlst, Andrew Morris, Morteza Pourfarzam, Kim Bartlett, E. Regula Baumgartner, Johannis B.C. deKlerk, Lisbeth Dahl Schroeder, Thomas J. Corydon, Hans Lund, Vibeke Winter, Peter Bross, Lars Bolund, Niels Gregersen |
| 495-507 | Prevalence and Phenotype Consequence of FRAXA and FRAXE Alleles in a Large, Ethnically Diverse, Special Education–Needs Population | Dana C. Crawford, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Dorothy L. Pettay, Laura B. Gold, S. Jane Hersey, Elizabeth F. Hinkle, Mary L. Stanfield, Patricia Holmgreen, Marshalyn Yeargin-Allsopp, Coleen Boyle, Stephanie L. Sherman |
| 508-517 | DNA Variation in a 5-Mb Region of the X Chromosome and Estimates of Sex-Specific/Type-Specific Mutation Rates | Theodore Anagnostopoulos, Peter M. Green, Gabriella Rowley, Cathryn M. Lewis, Francesco Giannelli |
| 518-525 | Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 | Maurine R. Hobbs, Ann R. Pole, Gregory N. Pidwirny, Irving B. Rosen, Richard J. Zarbo, Hilary Coon, Hunter Heath III, Mark Leppert, Charles E. Jackson |
| 526-532 | A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 | D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell, C.G. Woods, N.J. Lench, R.F. Mueller, A.F. Markham |
| 533-537 | Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26 | Hidetoshi Ikeda, Toru Sasaki, Takashi Yoshimoto, Masashi Fukui, Tadao Arinami |
| 538-546 | Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 | Hans van Bokhoven, Martin Jung, Arie P.T. Smits, Sylvia van Beersum, Franz Rüschendorf, Maurice van Steensel, Monique Veenstra, Joep H.A.M. Tuerlings, Edwin C.M. Mariman, Han G. Brunner, Thomas F. Wienker, Andre Reis, Hans-Hilger Ropers, Ben C.J. Hamel |
| 547-555 | Mapping of Primary Congenital Lymphedema to the 5q35.3 Region | Alison L. Evans, Glen Brice, Vihra Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, Mansoor Sarfarazi |
| 556-562 | Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7 | Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia Lennon Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison Rogala, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Tim, Margaret A. Pericak-Vance |
| 563-569 | Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q | Peter Hedera, Shirley Rainier, David Alvarado, Xinping Zhao, Jeffery Williamson, Brith Otterud, Mark Leppert, John K. Fink |
| 570-577 | Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation | Yaoqin Gong, David Chitayat, Bronwyn Kerr, Taiping Chen, Riyana Babul-Hirji, Adatiya Pal, Michael Reiss, Matthew L. Warman |
| 578-585 | Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity | Michael Oldridge, I. Karen Temple, Heloisa G. Santos, Richard J. Gibbons, Zehra Mustafa, Kay E. Chapman, John Loughlin, Andrew O.M. Wilkie |
| 586-593 | Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy | Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Carla Borrone, Giovanni Romeo, Marcella Devoto |
| 594-599 | Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22 | Lan Zu, Karla P. Figueroa, Raji Grewal, Stefan-M. Pulst |
| 600-607 | Congenital Motor Nystagmus Linked to Xq26-q27 | John B. Kerrison, M. Reza Vagefi, M. Michael Barmada, Irene H. Maumenee |
| 608-618 | Linkage of Low-Density Lipoprotein Size to the Lipoprotein Lipase Gene in Heterozygous Lipoprotein Lipase Deficiency | John E. Hokanson, John D. Brunzell, Gail P. Jarvik, Ellen M. Wijsman, Melissa A. Austin |
| 619-628 | The Central Siberian Origin for Native American Y Chromosomes | Fabrício R. Santos, Arpita Pandya, Chris Tyler-Smith, Sérgio D.J. Pena, Moses Schanfield, William R. Leonard, Ludmila Osipova, Michael H. Crawford, R. John Mitchell |
| 629-640 | Comparison of the Power and Accuracy of Biallelic and Microsatellite Markers in Population-Based Gene-Mapping Methods | Momiao Xiong, Li Jin |
| 641-649 | Power of Association and Linkage Tests When the Disease Alleles Are Unobserved | I-Ping Tu, Alice S. Whittemore |
| 651-653 | Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13 | L. Baala, S. Hadj Rabia, J. Zlotogora, K. Kabbaj, H. Chhoul, A. Munnich, S. Lyonnet, A. Sefiani |
| 653-658 | Mosaicism and Sporadic Familial Adenomatous Polyposis | Susan M. Farrington, Malcolm G. Dunlop |
| 658-659 | HPS | Richard A. Spritz, Jangsuk Oh |
| 659-667 | A Novel 22q11.2 Microdeletion in DiGeorge Syndrome | Anita Rauch, Rudolf A. Pfeiffer, Georg Leipold, Helmut Singer, Monika Tigges, Michael Hofbeck |
| 667-668 | RB1 Gene Mutations in Peripheral Blood DNA of Patients with Isolated Unilateral Retinoblastoma | Martina Klutz, Bernhard Horsthemke, Dietmar R. Lohmann |
| 668-669 | TDT Clarification | Richard S. Spielman, Warren J. Ewens |
| 670-672 | Announcements | |
| i-ii | This Month in the Journal | John Ashkenas |
| 673-677 | Nitric Oxide in Endothelial Dysfunction and Vascular Remodeling: Clinical Correlates and Experimental Links | Radu D. Rudic, William C. Sessa |
| 678-684 | The Molecular Basis of Vascular Disorders | Jeffrey A. Towbin, Brett Casey, John Belmont |
| 685-690 | Stress-Response Proteins in Cardiovascular Disease | XianZhong Xiao, Ivor J. Benjamin |
| 691-697 | Specificity in Transforming Growth Factor–β Signaling Pathways | C.J. Ring, K.W.Y. Cho |
| 698-705 | Human Molybdopterin Synthase Gene: Identification of a Bicistronic Transcript with Overlapping Reading Frames | B. Stallmeyer, G. Drugeon, J. Reiss, A.L. Haenni, R.R. Mendel |
| 706-711 | Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B | J. Reiss, C. Dorche, B. Stallmeyer, R.R. Mendel, N. Cohen, M.T. Zabot |
| 712-721 | Characterization and Mutation Analysis of Human LEFTY A | K. Kosaki, R. Kosaki, M.T. Bassi, M. Lewin, J. Belmont, G. Schauer, B. Casey |
| 722-731 | A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene | Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster, Michael J. Bamshad, Alexander E. Fraley, Iain McIntosh, Jinny Szabo, Wen Jiang, Ethylin W. Jabs, William R. Wilcox, John J. Wasmuth, Daniel J. Donoghue, Leslie M. Thompson, Clair A. Francomano |
| 732-738 | Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1 | Virginia P. Sybert, Julie S. Francis, Laura D. Corden, Lynne T. Smith, Molly Weaver, Karen Stephens, W. H. Irwin McLean |
| 739-746 | Genomic Structure of the Canalicular Multispecific Organic Anion–Transporter Gene (MRP2/cMOAT | Satoshi Toh, Morimasa Wada, Takeshi Uchiumi, Akihiko Inokuchi, Yoshinari Makino, Yutaka Horie, Yukihiko Adachi, Shotaro Sakisaka, Michihiko Kuwano |
| 747-758 | Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11 | B. Funke, L. Edelmann, N. McCain, R.K. Pandita, J. Ferreira, S. Merscher, M. Zohouri, L. Cannizzaro, A. Shanske, B.E. Morrow |
| 759-767 | Evidence That Mutations in the X-linked DDP | Robert M. Plenge, Lisbeth Tranebjaerg, Peter K.A. Jensen, Charles Schwartz, Huntington F. Willard |
| 768-775 | Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 | Andrea Richter, John D. Rioux, Jean-Pierre Bouchard, Jocelyne Mercier, Jean Mathieu, Bing Ge, Josée Poirier, Dominique Julien, Gabor Gyapay, Jean Weissenbach, Thomas J. Hudson, Serge B. Melançon, Kenneth Morgan |
| 776-787 | Evidence for a Rare Prostate Cancer–Susceptibility Locus at Chromosome 1p36 | Mark Gibbs, Janet L. Stanford, Richard A. McIndoe, Gail P. Jarvik, Suzanne Kolb, Ellen L. Goode, Lisa Chakrabarti, Eugene F. Schuster, Valerie A. Buckley, Elizabeth L. Miller, Susan Brandzel, Sarah Li, Leroy Hood, Elaine A. Ostrander |
| 788-792 | Autosomal Dominant Myopathy with Proximal Weakness and Early Respiratory Muscle Involvement Maps to Chromosome 2q | Piero Nicolao, Fengqing Xiang, Lars-Gunnar Gunnarsson, Bruno Giometto, Lars Edström, Maria Anvret, Zhiping Zhang |
| 793-800 | The Predisposition to Type 1 Diabetes Linked to the Human Leukocyte Antigen Complex Includes at Least One Non–Class II Gene | Benedicte A. Lie, John A. Todd, Flemming Pociot, Jørn Nerup, Hanne E. Akselsen, Geir Joner, Knut Dahl-Jørgensen, Kjersti S. Rønningen, Erik Thorsby, Dag E. Undlien |
| 801-807 | Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 | John A. Martignetti, Robert J. Desnick, Elias Aliprandis, Karen I. Norton, Philip Hardcastle, Sydney Nade, Bruce D. Gelb |
| 808-816 | A Genomewide Analysis Provides Evidence for Novel Linkages in Inflammatory Bowel Disease in a Large European Cohort | Jochen Hampe, Stefan Schreiber, Sarah H. Shaw, Kit F. Lau, Stephen Bridger, Andrew J.S. Macpherson, Lon R. Cardon, Hakan Sakul, Timothy J.R. Harris, Alan Buckler, Jeff Hall, Pieter Stokkers, Sander J.H. van Deventer, Peter Nürnberg, Mudassar M. Mirza, John C.W. Lee, John E. Lennard-Jones, Chris G. Mathew, Mark E. Curran |
| 817-831 | Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes | T.M. Karafet, S.L. Zegura, O. Posukh, L. Osipova, A. Bergen, J. Long, D. Goldman, W. Klitz, S. Harihara, P. de Knijff, V. Wiebe, R.C. Griffiths, A.R. Templeton, M.F. Hammer |
| 832-838 | Identifying Families with Likely Genetic Protective Factors against Alzheimer Disease | Jeremy M. Silverman, Christopher J. Smith, Deborah B. Marin, Sandra Birstein, Marlene Mare, Richard C. Mohs, Kenneth L. Davis |
| 839-851 | Multipoint Oligogenic Analysis of Age-at-Onset Data with Applications to Alzheimer Disease Pedigrees | E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman |
| 852-860 | The Duty to Recontact: Attitudes of Genetics Service Providers | Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins |
| 861-870 | The Transmission/Disequilibrium Test and Parental-Genotype Reconstruction: The Reconstruction-Combined Transmission/ Disequilibrium Test | Michael Knapp |
| 871-885 | Analysis of Affected Sib Pairs, with Covariates—With and Without Constraints | Celia M.T. Greenwood, Shelley B. Bull |
| 886-893 | A Parametric Copula Model for Analysis of Familial Binary Data | David-Alexandre Trégouët, Pierre Ducimetière, Valéry Bocquet, Sophie Visvikis, Florent Soubrier, Laurence Tiret |
| 895 | Psoriasis Linkage in the HLA Region | Richard O. Leder, Susan E. Hodge |
| 896-897 | Reply to Leder and Hodge | James Elder, Rajan Nair, Philip Stuart, John Voorhees, Sun-Wei Guo, Stefan Jenisch, Eckhard Westphal, Martin Krönke, Tilo Henseler, Enno Christophers |
| 897-900 | Protein-Truncation Mutations in the RP2 | Alan J. Mears, Linn Gieser, Denise Yan, Cynthia Chen, Stacey Fahrner, Suja Hiriyanna, Ricardo Fujita, Samuel G. Jacobson, Paul A. Sieving, Anand Swaroop |
| 900-904 | A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31 | Terry-Lynn Young, Lynette Penney, Michael O. Woods, Patrick S. Parfrey, Jane S. Green, Donna Hefferton, William S. Davidson |
| 904-908 | Autosomal Dominant (Beukes) Premature Degenerative Osteoarthropathy of the Hip Joint Maps to an 11-cM Region on Chromosome 4q35 | Philip Roby, Stephen Eyre, Jane Worthington, Rajkumar Ramesar, Hendrik Cilliers, Peter Beighton, Michael Grant, Gillian Wallis |
| 908-910 | Common Fragile Sites: G-Band Characteristics within an R-Band | Dan Mishmar, Yael Mandel-Gutfreund, Hanah Margalit, Ayelet Rahat, Batsheva Kerem |
| 910-915 | Finite-Sample Properties of Family-Based Association Tests | J.C. Whittaker, D.J. Thompson |
| 916-917 | Announcements | |
| 918-919 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 921-927 | Gonadoblastoma, Testicular and Prostate Cancers, and the TSPY | Yun-Fai Chris Lau |
| 928-933 | Male Infertility and the Y Chromosome | Ken McElreavey, Csilla Krausz |
| 934-938 | The X Chromosome and Recurrent Spontaneous Abortion: The Significance of Transmanifesting Carriers | Mark C. Lanasa, W. Allen Hogge, Eric P. Hoffman |
| 939-942 | The Genetic Basis for Periodic Fever | John C. Mulley |
| 943-948 | BRCA1 | P. Devilee |
| 949-962 | Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population | Ivona Aksentijevich, Yelizaveta Torosyan, Jonathan Samuels, Michael Centola, Elon Pras, Jae Jin Chae, Carole Oddoux, Geryl Wood, Maria Pia Azzaro, Giuseppe Palumbo, Rosario Giustolisi, Mordechai Pras, Harry Ostrer, Daniel L. Kastner |
| 963-970 | The Prevalence of Common BRCA1 | Patricia Hartge, Jeffery P. Struewing, Sholom Wacholder, Lawrence C. Brody, Margaret A. Tucker |
| 971-985 | Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene | Fiona C. Mansergh, Sophia Millington-Ward, Avril Kennan, Anna-Sophia Kiang, Marian Humphries, G. Jane Farrar, Peter Humphries, Paul F. Kenna |
| 986-992 | Germ-Line Mosaicism in Tuberous Sclerosis: How Common? | Verna M. Rose, Kit-Sing Au, Gretchen Pollom, E. Steve Roach, Heather R. Prashner, Hope Northrup |
| 993-1001 | Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 | Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen, Matti Lukka, Leena Peltonen |
| 1002-1014 | Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance | Christine E. Jackson, Roxanne E. Fischer, Amy P. Hsu, Stacie M. Anderson, Youngnim Choi, Jin Wang, Janet K. Dale, Thomas A. Fleisher, Lindsay A. Middelton, Michael C. Sneller, Michael J. Lenardo, Stephen E. Straus, Jennifer M. Puck |
| 1015-1023 | Mutations in a Dominant-Negative Isoform Correlate with Phenotype in Inherited Cardiac Arrhythmias | Raha Mohammad-Panah, Sophie Demolombe, Nathalie Neyroud, Pascale Guicheney, Florence Kyndt, Maurice van den Hoff, Isabelle Baró, Denis Escande |
| 1024-1035 | The 2588G→C Mutation in the ABCR | Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol, B. Jeroen Klevering, Frank J.J. van Haren, Nel Tijmes, Arthur A.B. Bergen, Klaus Rohrschneider, Anita Blankenagel, Alfred J.L.G. Pinckers, Niklas Dahl, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers |
| 1036-1044 | COL9A3: | Petteri Paassilta, Jaana Lohiniva, Susanna Annunen, Jacky Bonaventure, Martine Le Merrer, Lori Pai, Leena Ala-Kokko |
| 1045-1055 | The “Thermolabile” Variant of Methylenetetrahydrofolate Reductase and Neural Tube Defects: An Evaluation of Genetic Risk and the Relative Importance of the Genotypes of the Embryo and the Mother | Denis C. Shields, Peadar N. Kirke, James L. Mills, Dorothy Ramsbottom, Anne M. Molloy, Helen Burke, Donald G. Weir, John M. Scott, Alexander S. Whitehead |
| 1056-1062 | Multicentric Origin of Hemochromatosis Gene (HFE | J. Rochette, J.J. Pointon, C.A. Fisher, G. Perera, M. Arambepola, D. S. Kodikara Arichchi, S. De Silva, J.L. Vandwalle, J.P. Monti, J.M. Old, A.T. Merryweather-Clarke, D.J. Weatherall, K.J.H. Robson |
| 1063-1070 | Ancestral Origins and Worldwide Distribution of the PRNP | Hee Suk Lee, Nyamkhishig Sambuughin, Larisa Cervenakova, Joab Chapman, Maurizio Pocchiari, Svetlana Litvak, Hai Yan Qi, Herbert Budka, Teodoro del Ser, Hisako Furukawa, Paul Brown, D. Carleton Gajdusek, Jeffrey C. Long, Amos D. Korczyn, Lev G. Goldfarb |
| 1071-1075 | Age Estimates of Two Common Mutations Causing Factor XI Deficiency: Recent Genetic Drift Is Not Necessary for Elevated Disease Incidence among Ashkenazi Jews | David B. Goldstein, David E. Reich, Neil Bradman, Sali Usher, Uri Seligsohn, Hava Peretz |
| 1076-1086 | Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome | Lisa Edelmann, Raj K. Pandita, Bernice E. Morrow |
| 1087-1095 | Analysis of Chromosome 1q42.2-43 in 152 Families with High Risk of Prostate Cancer | Mark Gibbs, Lisa Chakrabarti, Janet L. Stanford, Ellen L. Goode, Suzanne Kolb, Eugene F. Schuster, Valerie A. Buckley, Morgan Shook, Leroy Hood, Gail P. Jarvik, Elaine A. Ostrander |
| 1096-1109 | Genetic Linkage of IgA Deficiency to the Major Histocompatibility Complex: Evidence for Allele Segregation Distortion, Parent-of-Origin Penetrance Differences, and the Role of Anti-IgA Antibodies in Disease Predisposition | Igor Vořechovský, A. David B. Webster, Alessandro Plebani, Lennart Hammarström |
| 1110-1118 | Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31 | Anat Blumenfeld, Susan A. Slaugenhaupt, Christopher B. Liebert, Violeta Temper, Channa Maayan, Sandra Gill, Diane E. Lucente, Maria Idelson, Kathy MacCormack, Mary Anne Monahan, James Mull, Maire Leyne, Marc Mendillo, Taryn Schiripo, Esther Mishori, Xandra Breakefield, Felicia B. Axelrod, James F. Gusella |
| 1119-1126 | Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1 | Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Benedicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Bröndum-Nielsen, Peter Marynen, Jean-Pierre Fryns, Joris Robert Vermeesch |
| 1127-1140 | Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans | Ravindranath Duggirala, John Blangero, Laura Almasy, Thomas D. Dyer, Kenneth L. Williams, Robin J. Leach, Peter O'Connell, Michael P. Stern |
| 1141-1146 | A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3 | Annick Cabot, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Dominique Ducroq, Asmae Smahi, Eric Souied, Arnold Munnich, Josseline Kaplan |
| 1147-1157 | Linkage Disequilibrium at the ADH2 | Michael Osier, Andrew J. Pakstis, Judith R. Kidd, Jia-Fu Lee, Shih-Jiun Yin, Huei-Chen Ko, Howard J. Edenberg, Ru-Band Lu, Kenneth K. Kidd |
| 1158-1165 | Relaxed Replication of mtDNA: A Model with Implications for the Expression of Disease | Patrick F. Chinnery, David C. Samuels |
| 1166-1176 | mtDNA Analysis of Nile River Valley Populations: A Genetic Corridor or a Barrier to Migration? | Matthias Krings, Abd-el Halim Salem, Karin Bauer, Helga Geisert, Adel K. Malek, Louis Chaix, Christian Simon, Derek Welsby, Anna Di Rienzo, Gerd Utermann, Antti Sajantila, Svante Pääbo, Mark Stoneking |
| 1177-1185 | A Note on Power Approximations for the Transmission/Disequilibrium Test | Michael Knapp |
| 1186-1193 | Allowing for Missing Parents in Genetic Studies of Case-Parent Triads | C.R. Weinberg |
| 1194-1205 | Comparison of Linkage-Disequilibrium Methods for Localization of Genes Influencing Quantitative Traits in Humans | Grier P. Page, Christopher I. Amos |
| 1207-1210 | A Novel NTRK1 Mutation Associated with Congenital Insensitivity to Pain with Anhidrosis | Angela Greco, Riccardo Villa, Barbara Tubino, Luca Romano, Donata Penso, Marco A. Pierotti |
| 1210-1215 | Mutations in the RP2 | Alison J. Hardcastle, Dawn L. Thiselton, Lionel Van Maldergem, Bratin K. Saha, Marcelle Jay, Catherine Plant, Rachel Taylor, Alan C. Bird, Shomi Bhattacharya |
| 1216-1221 | Double Heterozygosity for a RET | Alberto Auricchio, Paola Griseri, Maria Luisa Carpentieri, Nicola Betsos, Annamaria Staiano, Arturo Tozzi, Manuela Priolo, Helen Thompson, Renata Bocciardi, Giovanni Romeo, Andrea Ballabio, Isabella Ceccherini |
| 1221-1225 | A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation | Xue-Zhong Liu, Carolyn Hope, Chuan Yu Liang, Jiu Mu Zou, Li Rong Xu, T. Cole, Robert F. Mueller, Sarah Bundey, Walter Nance, Karen P. Steel, Steve D.M. Brown |
| 1225-1228 | Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis | Isabelle Perrault, Jean-Michel Rozet, Imad Ghazi, Corinne Leowski, Michèle Bonnemaison, Sylvie Gerber, Dominique Ducroq, Annick Cabot, Eric Souied, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan |
| 1228-1230 | The APC | Diane L. Maresco, Patricia H. Arnold, Yukio Sonoda, Mark G. Federici, Faina Bogomolniy, Esther Rhei, Jeff Boyd |
| 1230-1233 | Germ-Line NF2 | Michael E. Baser, Lan Kluwe, Victor-F. Mautner |
| 1233-1238 | Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago | Anna Díaz, Baijin Zeng, Gregory M. Pastores, Amparo Chabás, Lluïsa Vilageliu, Magda Montfort, Bru Cormand, Daniel Grinberg |
| 1238-1241 | Deafness Locus DFNB16 Is Located on Chromosome 15q13-q21 within a 5-cM Interval Flanked by Markers D15S994 and D15S132 | Manuela Villamar, Ignacio del Castillo, Noelia Valle, Lourdes Romero, Felipe Moreno |
| 1241-1243 | Prevalence of Bloom Syndrome Heterozygotes among Ashkenazi Jews | Carole Oddoux, Carlos Mark Clayton, Holly Reid Nelson, Harry Ostrer |
| 1243-1246 | Optimal Ascertainment Strategies to Detect Linkage to Common Disease Alleles | Miron Baron |
| 1246-1248 | Reply to Baron | Judith A. Badner, Elliot S. Gershon, Lynn R. Goldin |
| 1248-1252 | Down-Weighting of Multiple Affected Sib Pairs Leads to Biased Likelihood-Ratio Tests, under the Assumption of No Linkage | Celia M.T. Greenwood, Shelley B. Bull |
| 1253-1254 | Phyllis J. McAlpine, Ph.D., 1941–98: In Memoriam | Diane W. Cox, Susan Povey, Thomas B. Shows |
| 1255-1256 | Announcements | |
| 1257 | Erratum | |
| 1257 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1259-1263 | Transcription-Coupled Repair of DNA Damage: Unanticipated Players, Unexpected Complexities | Steven A. Leadon |
| 1264-1269 | The Mammalian Mre11-Rad50-Nbs1 Protein Complex: Integration of Functions in the Cellular DNA–Damage Response | John H.J. Petrini |
| 1270-1275 | Immunoglobulin Class Switch Recombination: Will Genetics Provide New Clues to Mechanism? | Nancy Maizels |
| 1276-1281 | Repair of mtDNA in Vertebrates | Daniel F. Bogenhagen |
| 1282-1288 | Poly(ADP-Ribose) Polymerase in the Cellular Response to DNA Damage, Apoptosis, and Disease | F. Javier Oliver, Josiane Menissier-de Murcia, Gilbert de Murcia |
| 1289-1292 | Outrageous Fortune: The Risk of Suicide in Genetic Testing for Huntington Disease | Thomas D. Bird |
| 1293-1304 | A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease | Elisabeth W. Almqvist, Maurice Bloch, Ryan Brinkman, David Craufurd, Michael R. Hayden and on behalf of an international Huntington disease collaborative group |
| 1305-1315 | Comprehensive Mutation Analysis of TSC1 | Alistair C. Jones, Magitha M. Shyamsundar, Meinir W. Thomas, Julie Maynard, Shelley Idziaszczyk, Susan Tomkins, Julian R. Sampson, Jeremy P. Cheadle |
| 1316-1322 | Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene (HGO | D. Beltrán-Valero de Bernabé, F.J. Jimenez, R. Aquaron, S. Rodríguez de Córdoba |
| 1323-1329 | Identification of a Genetic Defect in the Hairless Gene in Atrichia with Papular Lesions: Evidence for Phenotypic Heterogeneity among Inherited Atrichias | Eli Sprecher, Reuven Bergman, Raymonde Szargel, Rachel Friedman-Birnbaum, Nadine Cohen |
| 1330-1339 | An mtDNA Mutation in the Initiation Codon of the Cytochrome C | Kim M. Clark, Robert W. Taylor, Margaret A. Johnson, Patrick F. Chinnery, Zofia M.A. Chrzanowska-Lightowlers, Richard M. Andrews, Isobel P. Nelson, Nicholas W. Wood, Phillipa J. Lamont, Michael G. Hanna, Robert N. Lightowlers, Douglass M. Turnbull |
| 1340-1356 | Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 | Brunhilde Wirth, M. Herz, A. Wetter, S. Moskau, E. Hahnen, S. Rudnik-Schöneborn, T. Wienker, K. Zerres |
| 1357-1364 | Connexin46 Mutations in Autosomal Dominant Congenital Cataract | Donna Mackay, Alexander Ionides, Zoha Kibar, Guy Rouleau, Vanita Berry, Anthony Moore, Alan Shiels, Shomi Bhattacharya |
| 1365-1370 | The Promoters of the Survival Motor Neuron Gene (SMN | Andoni Echaniz-Laguna, Pierre Miniou, Deborah Bartholdi, Judith Melki |
| 1371-1377 | Modification of BRCA1 | Timothy R. Rebbeck, Philip W. Kantoff, Krishna Krithivas, Susan Neuhausen, M. Anne Blackwood, Andrew K. Godwin, Mary B. Daly, Steven A. Narod, Judy E. Garber, Henry T. Lynch, Barbara L. Weber, Myles Brown |
| 1378-1387 | A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 | Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro, Jean-Christophe Marinoni, Fernando Civeira, Martine Devillers, Michel Krempf, Monique Coulon, Rochelle Thiart, Maritha J. Kotze, Helena Schmidt, Jean-Claude Buzzi, Gert M. Kostner, Stephano Bertolini, Miguel Pocovi, Alberto Rosa, Michel Farnier, Maria Martinez, Claudine Junien, et al. | |
| 1388-1393 | Juvenile Hemochromatosis Locus Maps to Chromosome 1q | A. Roetto, A. Totaro, M. Cazzola, M. Cicilano, S. Bosio, G. D'Ascola, M. Carella, L. Zelante, A.L. Kelly, T.M. Cox, P. Gasparini, C. Camaschella |
| 1394-1399 | A New Locus for Autosomal Dominant Stargardt-Like Disease Maps to Chromosome 4 | Marina Kniazeva, Michael F. Chiang, Basil Morgan, Alfred L. Anduze, Donald J. Zack, Min Han, Kang Zhang |
| 1400-1405 | The Fanconi Anemia Group E Gene, FANCE, | Quinten Waisfisz, Cigdem Altay, Peter A. Leegwater, Johan P. de Winter, Kenshi Komatsu, Gareth R. Evans, Rolf-Dieter Wegner, André Reis, Hans Joenje, Fré Arwert, Christopher G. Mathew, Jan C. Pronk, Kathrin Saar, Neil V. Morgan, Martin Digweed |
| 1406-1410 | The Critical Region for Behçet Disease in the Human Major Histocompatibility Complex Is Reduced to a 46-kb Segment Centromeric of HLA-B, by Association Analysis Using Refined Microsatellite Mapping | Masao Ota, Nobuhisa Mizuki, Yoshihiko Katsuyama, Gen Tamiya, Takashi Shiina, Akira Oka, Hitoshi Ando, Minoru Kimura, Kaori Goto, Shigeaki Ohno, Hidetoshi Inoko |
| 1411-1419 | Evidence for Linkage of Adolescent-Onset Idiopathic Generalized Epilepsies to Chromosome 8—and Genetic Heterogeneity | Martina Durner, Guillan Zhou, Dingyi Fu, Paula Abreu, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sibylle Wallace, Daniel Luciano, Karen Ballaban-Gil, Irene Klotz, Elisa Dicker, David A. Greenberg |
| 1420-1426 | Dominant Hereditary Inclusion-Body Myopathy Gene (IBM3 | Tommy Martinsson, Niklas Darin, Mårten Kyllerman, Anders Oldfors, Birgitta Hallberg, Jan Wahlström |
| 1427-1439 | Evidence for Effective Suppression of Recombination in the Chromosome 17q21 Segment Spanning RNU2–BRCA1 | Xudong Liu, David F. Barker |
| 1440-1444 | Transmission of a Fully Functional Human Neocentromere through Three Generations | Chris Tyler-Smith, Giorgio Gimelli, Sabrina Giglio, Giovanna Floridia, Arpita Pandya, Gianluigi Terzoli, Peter E. Warburton, William C. Earnshaw, Orsetta Zuffardi |
| 1445-1452 | Heterogeneous X Inactivation in Trophoblastic Cells of Human Full-Term Female Placentas | Leendert H.J. Looijenga, Ad J.M. Gillis, Annemieke J.M.H. Verkerk, Wim L.J. van Putten, J. Wolter Oosterhuis |
| 1453-1463 | Genomewide Scan for Familial Combined Hyperlipidemia Genes in Finnish Families, Suggesting Multiple Susceptibility Loci Influencing Triglyceride, Cholesterol, and Apolipoprotein B Levels | Päivi Pajukanta, Joseph D. Terwilliger, Markus Perola, Tero Hiekkalinna, Ilpo Nuotio, Pekka Ellonen, Maija Parkkonen, Jaana Hartiala, Kati Ylitalo, Jussi Pihlajamäki, Kimmo Porkka, Markku Laakso, Jorma Viikari, Christian Ehnholm, Marja-Riitta Taskinen, Leena Peltonen |
| 1464-1472 | Relationship Estimation by Markov-Process Models in a Sib-Pair Linkage Study | Jane M. Olson |
| 1473 | Mutation Rate in Human Microsatellites | Jürgen Henke, Lotte Henke |
| 1473-1474 | Reply to Henke and Henke | B. Rolf, B. Brinkmann |
| 1475-1478 | Recurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism | Ali Kara-Mostefa, Odile Raoul, Stanislas Lyonnet, Jeanne Amiel, Arnold Munnich, Michel Vekemans, Suzel Magnier, Batool Ossareh, Jean-Paul Bonnefont |
| 1478-1480 | Localization of a Gene for Bitter-Taste Perception to Human Chromosome 5p15 | Danielle R. Reed, Elizabeth Nanthakumar, Michael North, Callum Bell, Linda M. Bartoshuk, R. Arlen Price |
| 1480-1484 | Sperm Chromosome Analysis in a Man Heterozygous for a Paracentric Inversion of Chromosome 14 (q24.1q32.1) | R.H. Martin |
| 1484-1485 | A Program for the Monte Carlo Evaluation of Significance of the Extended Transmission/Disequilibrium Test | Jing Hua Zhao, Pak Chung Sham, David Curtis |
| 1485-1486 | Genomewide Transmission/Disequilibrium Testing: A Correction | Nicola J. Camp |
| 1488 | DNA Transfer to Cultured Cells | Beverly L. Davidson |
| 1489-1490 | Announcements | |
| 1491 | Errata | |
| 1491 | Errata | |
| 1492 | New Editor of The American Journal of Human Genetics | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1493-1498 | From the ER to the Golgi: Insights from the Study of Combined Factors V and VIII Deficiency | William C. Nichols, David Ginsburg |
| 1499-1504 | Cystic Fibrosis as a Disease of Misprocessing of the Cystic Fibrosis Transmembrane Conductance Regulator Glycoprotein | John R. Riordan |
| 1505-1510 | Human Mitochondrial Complex I in Health and Disease | Jan Smeitink, Lambert van den Heuvel |
| 1511-1523 | Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder | David E. Sleat, Rosalie M. Gin, Istvan Sohar, Krystyna Wisniewski, Susan Sklower-Brooks, Raju K. Pullarkat, David N. Palmer, Terry J. Lerner, Rose-Mary Boustany, Peter Uldall, Aristotle N. Siakotos, Robert J. Donnelly, Peter Lobel |
| 1524-1540 | Calpainopathy—A Survey of Mutations and Polymorphisms | I. Richard, C. Roudaut, A. Saenz, R. Pogue, J.E.M.A. Grimbergen, L.V.B. Anderson, C. Beley, A-M Cobo, C. de Diego, B. Eymard, P. Gallano, H.B. Ginjaar, A. Lasa, C. Pollitt, H. Topaloglu, J.A. Urtizberea, M. de Visser, A. van der Kooi, K. Bushby, E. Bakker, et al. | |
| 1541-1549 | Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II | Jan Hendrickx, Philip Lee, James P. Keating, Dietbrand Carton, Imdadali B. Sardharwalla, Mendel Tuchman, Christiane Baussan, Patrick J. Willems |
| 1550-1562 | The Spectrum of Mutations in TBX3: | M. Bamshad, T. Le, W.S. Watkins, M.E. Dixon, B.E. Kramer, A.D. Roeder, J.C. Carey, S. Root, A. Schinzel, L. Van Maldergem, R.J.M. Gardner, R.C. Lin, C.E. Seidman, J.G. Seidman, R. Wallerstein, E. Moran, R. Sutphen, C.E. Campbell, L.B. Jorde |
| 1563-1569 | Mutations in the Human UDP-N | Raili Seppala, Veli-Pekka Lehto, William A. Gahl |
| 1570-1579 | Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA | Sek Mardy, Yuichi Miura, Fumio Endo, Ichiro Matsuda, László Sztriha, Philippe Frossard, Allie Moosa, Essam A.R. Ismail, Alfons Macaya, Generoso Andria, Ennio Toscano, William Gibson, Gail E. Graham, Yasuhiro Indo |
| 1580-1593 | A Unique Point Mutation in the PMP22 | Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev, Kathleen Campbell, Larry Mazzeo, Kristin Herman, Lisa A. Rimer, William Frank, Barbara Llewellyn, Ethylin Wang Jabs, David Gelber, Virginia E. Kimonis |
| 1594-1603 | Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation | P. Giunti, G. Stevanin, P.F. Worth, G. David, A. Brice, N.W. Wood |
| 1604-1616 | X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 | Maria T. Bassi, Rajkumar S. Ramesar, Barbara Caciotti, Ingrid M. Winship, Alessandro De Grandi, Mirko Riboni, Philip L. Townes, Peter Beighton, Andrea Ballabio, Giuseppe Borsani |
| 1617-1631 | Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: | Sharon N. Teraoka, Milhan Telatar, Sara Becker-Catania, Teresa Liang, Suna Önengüt, Asli Tolun, Luciana Chessa, Özden Sanal, Eva Bernatowska, Richard A. Gatti, Patrick Concannon |
| 1632-1637 | High Rate of Mosaicism in Tuberous Sclerosis Complex | Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars, Arjenne L.W. Hesseling-Janssen, Tadeusz Mazurczak, Sergiusz Jozwiak, Alberto Fois, Gabriella Bartalini, Bernard A. Zonnenberg, Anthonie J. van Essen, Dick Lindhout, Dicky J.J. Halley, Ans M.W. van den Ouweland |
| 1638-1645 | Germ-Cell Nondisjunction in Testes Biopsies of Men With Idiopathic Infertility | William J. Huang, Dolores J. Lamb, Edward D. Kim, Jocelyn de Lara, William W. Lin, Larry I. Lipshultz, Farideh Z. Bischoff |
| 1646-1654 | Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3 | Rýdvan S. Özen, Bora E. Baysal, Bernie Devlin, Joan E. Farr, Michael Gorry, Garth D. Ehrlich, Charles W. Richard III |
| 1655-1660 | Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12 | Francesco Scolari, Daniela Puzzer, Antonio Amoroso, Gianluca Caridi, Gian Marco Ghiggeri, Rosario Maiorca, Paolo Aridon, Maurizio De Fusco, Andrea Ballabio, Giorgio Casari |
| 1661-1669 | Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 | Wendy Balemans, Jenneke Van Den Ende, Auristela Freire Paes-Alves, Frederik G. Dikkers, Patrick J. Willems, Filip Vanhoenacker, Neli de Almeida-Melo, Cristiane Freire Alves, Constantine A. Stratakis, Suvimol C. Hill, Wim Van Hul |
| 1670-1678 | Assessing the Feasibility of Linkage Disequilibrium Methods for Mapping Complex Traits: An Initial Screen for Bipolar Disorder Loci on Chromosome 18 | Michael A. Escamilla, L. Alison McInnes, Mitzi Spesny, Victor I. Reus, Susan K. Service, Norito Shimayoshi, David J. Tyler, Sandra Silva, Julio Molina, Alvaro Gallegos, Luis Meza, Maria L Cruz, Steven Batki, Sophia Vinogradov, Thomas Neylan, Jasmine B. Nguyen, Eduardo Fournier, Carmen Araya, Samuel H. Barondes, Pedro Leon, et al. | |
| 1679-1685 | Homozygosity Mapping of the Achromatopsia Locus in the Pingelapese | Jeffrey D. Winick, Maude L. Blundell, Brandi L. Galke, Ambar A. Salam, Suzanne M. Leal, Maria Karayiorgou |
| 1686-1693 | Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism | Laura Almasy, James E. Hixson, David L. Rainwater, Shelley Cole, Jeff T. Williams, Michael C. Mahaney, John L. VandeBerg, Michael P. Stern, Jean W. MacCluer, John Blangero |
| 1694-1701 | An Extreme-Sib-Pair Genome Scan for Genes Regulating Blood Pressure | Xiping Xu, John J. Rogus, Henry A. Terwedow, Jianhua Yang, Zhaoxi Wang, Changzhong Chen, Tianhua Niu, Binyan Wang, Hengqiu Xu, Scott Weiss, Nicholas J. Schork, Zhian Fang |
| 1702-1708 | A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans | Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick |
| 1709-1718 | Tracing the Origin of HLA-DRB1 Alleles by Microsatellite Polymorphism | Tomas F. Bergström, Hans Engkvist, Rikard Erlandsson, Agnetha Josefsson, Steven J. Mack, Henry A. Erlich, Ulf Gyllensten |
| 1719-1727 | The Role of Community Review in Evaluating the Risks of Human Genetic Variation Research | Morris W. Foster, Richard R. Sharp, William L. Freeman, Michelle Chino, Deborah Bernsten, Thomas H. Carter |
| 1728-1738 | Linkage-Disequilibrium Mapping of Disease Genes by Reconstruction of Ancestral Haplotypes in Founder Populations | S.K. Service, D.W. Temple Lang, N.B. Freimer, L.A. Sandkuijl |
| 1739-1753 | On the Assessment of Statistical Significance in Disease-Gene Discovery | Lue Ping Zhao, Ross Prentice, Fumin Shen, Li Hsu |
| 1754-1764 | Sibling-Based Tests of Linkage and Association for Quantitative Traits | David B. Allison, Moonseong Heo, Norman Kaplan, Eden R. Martin |
| 1765-1773 | Disequilibrium Mapping of a Quantitative-Trait Locus in an Expanding Population | Montgomery Slatkin |
| 1775-1778 | Mutations of the TIGR/MYOC | Sung-Joo Kim Yoon, Hae-Suk Kim, Joung-Il Moon, Jung Min Lim, Choun-Ki Joo |
| 1778-1781 | Evidence for the Genetic Heterogeneity of Nephropathic Phenotypes Associated with Denys-Drash and Frasier Syndromes | A.B. Koziell, R. Grundy, T.M. Barratt, P. Scambler |
| 1781-1784 | Rett Syndrome in a Boy with a 47,XXY Karyotype | José Salomão Schwartzman, Mayana Zatz, Luciana dos Reis Vasquez, Raquel Ribeiro Gomes, Célia P. Koiffmann, Cintia Fridman, Priscilla Guimarães Otto |
| 1785-1786 | Combining the Sibling Disequilibrium Test and Transmission/Disequilibrium Test for Multiallelic Markers | David Curtis, Michael B. Miller, Pak C. Sham |
| 1787 | Mathematical and Statistical Methods for Genetic Analysis | Daniel Schaid |
| 1788 | Biology of Aging: Observations and Principles, 2d ed. | Caleb E. Finch |
| 1789-1790 | Announcements | |
| 1791 | Erratum | |
| 1791 | Errata | |
| 1792-1801 | Author Index for Volume 60 | |
| 1802-1810 | Subject Index for Volume 64 | |
| 1811-1831 | Contents of Volume 64 | |
| 1832 | New Editor of The American Journal of Human Genetics | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1-6 | Genetics of Angelman Syndrome | Yong-hui Jiang, Efrat Lev-Lehman, Jan Bressler, Ting-Fen Tsai, Arthur L. Beaudet |
| 7-12 | Function and Dysfunction of the Presenilins | Sangram S. Sisodia, Seong H. Kim, Gopal Thinakaran |
| 13-18 | Microglia and the Immune Pathology of Alzheimer Disease | Dana Giulian |
| 19-24 | Periventricular Heterotopia and the Genetics of Neuronal Migration in the Cerebral Cortex | Jeremy W. Fox, Christopher A. Walsh |
| 25-30 | Learning from the Slime Mold: Dictyostelium | Charles L. Saxe |
| 31-38 | Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia | Paul Holden, Elizabeth G. Canty, Geert R. Mortier, Bernhard Zabel, Jurgen Spranger, Andrew Carr, Michael E. Grant, John A. Loughlin, Michael D. Briggs |
| 39-49 | Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR | Ruth Thomas, Robert McConnell, Jo Whittacker, Peter Kirkpatrick, John Bradley, Richard Sandford |
| 50-58 | X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene | S.W. Knight, N.S. Heiss, T.J. Vulliamy, S. Greschner, G. Stavrides, G.S. Pai, G. Lestringant, N. Varma, P.J. Mason, I. Dokal, A. Poustka |
| 59-67 | The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment | Leo A.J. Kluijtmans, Godfried H.J. Boers, Jan P. Kraus, Lambert P. W.J. van den Heuvel, Johan R.M. Cruysberg, Frans J.M. Trijbels, Henk J. Blom |
| 68-76 | Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 | Véronique Satre, Nicole Monnier, Florence Berthoin, Carmen Ayuso, Alain Joannard, Pierre-Simon Jouk, Isidora Lopez-Pajares, André Megabarne, Henri Jean Philippe, Henri Plauchu, Maria Luisa Torres, Joël Lunardi |
| 77-87 | Structure of the GM2A | Biao Chen, Brigitte Rigat, Cynthia Curry, Don J. Mahuran |
| 88-97 | MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications | Cécile Cazeneuve, Tamara Sarkisian, Christophe Pêcheux, Michel Dervichian, Brigitte Nédelec, Philippe Reinert, Alexandre Ayvazyan, Jean-Claude Kouyoumdjian, Hasmik Ajrapetyan, Marc Delpech, Michel Goossens, Catherine Dodé, Gilles Grateau, Serge Amselem |
| 98-103 | Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis | Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee, Arie Smits, Eddy van Looveren, Patrick J. Willems, Hans Galjaard, Ben A. Oostra |
| 104-110 | Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD | Miguel Del Campo, Marilyn C. Jones, Alexey N. Veraksa, Cindy J. Curry, Kenneth L. Jones, James T. Mascarello, Zohra Ali-Kahn-Catts, Timothy Drumheller, William McGinnis |
| 111-124 | Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: | Dietmar Pfeifer, Ralf Kist, Ken Dewar, Keri Devon, Eric S. Lander, Bruce Birren, Lech Korniszewski, Elke Back, Gerd Scherer |
| 125-133 | A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p21-22 | Laurence M. Boon, Pascal Brouillard, Alexandre Irrthum, Leena Karttunen, Matthew L. Warman, Ross Rudolph, John B. Mulliken, Bjorn R. Olsen, Miikka Vikkula |
| 134-140 | In Swedish Families with Hereditary Prostate Cancer, Linkage to the HPC1 | Henrik Grönberg, Jeffrey Smith, Monika Emanuelsson, Björn-Anders Jonsson, Anders Bergh, John Carpten, William Isaacs, Jianfeng Xu, Deborah Meyers, Jeffrey Trent, Jan-Erik Damber |
| 141-150 | A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3 | Kunihiro Fukushima, Norio Kasai, Yasuyoshi Ueki, Kazunori Nishizaki, Kennichi Sugata, Satoshi Hirakawa, Akemi Masuda, Mehmet Gunduz, Yoshifumi Ninomiya, Yu Masuda, Minako Sato, Wyman T. McGuirt, Paul Coucke, Guy Van Camp, Richard J.H. Smith |
| 151-157 | The Gene for Cherubism Maps to Chromosome 4p16.3 | Jonathan Mangion, Nazneen Rahman, Sarah Edkins, Rita Barfoot, Trang Nguyen, Asgeir Sigurdsson, John V. Townend, David R. Fitzpatrick, Adrienne M. Flanagan, Michael R. Stratton |
| 158-166 | The Gene for Cherubism Maps to Chromosome 4p16 | Valdenize Tiziani, Ernst Reichenberger, Celso Luiz Buzzo, Sadia Niazi, Naomi Fukai, Michael Stiller, Hartmut Peters, Francisco M. Salzano, Cassio M. Raposo do Amaral, Bjorn Reino Olsen |
| 167-174 | Osteoarthritis-Susceptibility Locus on Chromosome 11q, Detected by Linkage | Kay Chapman, Zehra Mustafa, Catherine Irven, Andrew J. Carr, Kim Clipsham, Anne Smith, Jai Chitnavis, Janet S. Sinsheimer, Victoria A. Bloomfield, Mary McCartney, Olive Cox, Lon R. Cardon, Bryan Sykes, John Loughlin |
| 175-182 | A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3 | Peter D. Turnpenny, Michael P. Bulman, Timothy M. Frayling, Tewfiq K. Abu-Nasra, Christine Garrett, Andrew T. Hattersley, Sian Ellard |
| 183-191 | Sequence Diversity in 36 Candidate Genes for Cardiovascular Disorders | François Cambien, Odette Poirier, Viviane Nicaud, Stefan-Martin Herrmann, Christine Mallet, Sylvain Ricard, Isabelle Behague, Vincent Hallet, Hervé Blanc, Valérie Loukaci, Joëlle Thillet, Alun Evans, Jean-Bernard Ruidavets, Dominique Arveiler, Gérald Luc, Laurence Tiret |
| 192-198 | Patterns of Instability of Expanded CAG Repeats at the ERDA1 | Ranjan Deka, Sun Guangyun, Jonathan Wiest, Diane Smelser, Su Chunhua, Yixi Zhong, Ranajit Chakraborty |
| 199-207 | An mtDNA Analysis in Ancient Basque Populations: Implications for Haplogroup V as a Marker for a Major Paleolithic Expansion from Southwestern Europe | N. Izagirre, C. de la Rúa |
| 208-219 | Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA | Anna Pérez-Lezaun, Francesc Calafell, David Comas, Eva Mateu, Elena Bosch, Rosa Martínez-Arias, Jordi Clarimón, Giovanni Fiori, Donata Luiselli, Fiorenzo Facchini, Davide Pettener, Jaume Bertranpetit |
| 220-228 | Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies | Jonathan K. Pritchard, Noah A. Rosenberg |
| 229-235 | Methods for Detection of Parent-of-Origin Effects in Genetic Studies of Case-Parents Triads | Clarice R. Weinberg |
| 236-245 | A Test of Transmission/Disequilibrium for Quantitative Traits in Pedigree Data, by Multiple Regression | Varghese George, Hemant K. Tiwari, Xiaofeng Zhu, Robert C. Elston |
| 247-249 | Mutations of UFD1L | Roy Wadey, Judith McKie, Charalambos Papapetrou, Helen Sutherland, Frans Lohman, Jan Osinga, Ingrid Frohn, Robert Hofstra, Carel Meijers, Francesca Amati, Emanuela Conti, Antonio Pizzuti, Bruno Dallapiccola, Giuseppe Novelli, Peter Scambler |
| 249-251 | Haploinsufficiency of the HOXA | Koenraad Devriendt, Jaak Jaeken, Gert Matthijs, Hilde Van Esch, Philippe Debeer, Marc Gewillig, Jean-Pierre Fryns |
| 252-254 | Highly Skewed X-Chromosome Inactivation Is Associated with Idiopathic Recurrent Spontaneous Abortion | Mark C. Lanasa, W. Allen Hogge, Carolyn Kubik, Jan Blancato, Eric P. Hoffman |
| 254-256 | No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer | Alice S. Whittemore, Iping G. Lin, Ingrid Oakley-Girvan, Richard P. Gallagher, Jerry Halpern, Laurence N. Kolonel, Anna H. Wu, Chih-Lin Hsieh |
| 256-260 | A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia | Jyrki Kaukonen, Massimo Zeviani, Giacomo Pietro Comi, Maria-Grazia Piscaglia, Leena Peltonen, Anu Suomalainen |
| 261-265 | Possible Interaction between USH1B and USH3 Gene Products as Implied by Apparent Digenic Deafness Inheritance | Avital Adato, Hagar Kalinski, Dominique Weil, Hassan Chaib, Michael Korostishevsky, Batsheva Bonne-Tamir |
| 265-268 | Anticipation in Familial Chronic Lymphocytic Leukemia | Lynn R. Goldin, Maria Sgambati, Gerald E. Marti, Laura Fontaine, Naoko Ishibe, Neil Caporaso |
| 270 | Genome Analysis: A Laboratory Manual (Vols. 1–4) | Ram S. Verma |
| 271-275 | Announcements | |
| 276 | Errata | |
| 276 | Errata | |
| 277 | Errata | |
| 277 | Errata | |
| 278 | New Editor of The American Journal of Human Genetics | |
| i-ii | This Month in the Journal | John Ashkenas |
| 279-286 | The Bare Lymphocyte Syndrome: Molecular Clues to the Transcriptional Regulation of Major Histocompatibility Complex Class II Genes | Angela DeSandro, Uma M. Nagarajan, Jeremy M. Boss |
| 287-293 | Interleukin-2 Signaling and Inherited Immunodeficiency | Nicholas A. Cacalano, James A. Johnston |
| 294-301 | Unlinking Tumor Necrosis Factor Biology from the Major Histocompatibility Complex: Lessons from Human Genetics and Animal Models | Sigrid R. Ruuls, Jonathon D. Sedgwick |
| 302-307 | Genes That Regulate Eosinophilic Inflammation | David H. Broide, Hal Hoffman, P. Sriramarao |
| 308-317 | Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene | Alain Colige, Aleksander L. Sieron, Shi-Wu Li, Ulrike Schwarze, Elizabeth Petty, Wladimir Wertelecki, William Wilcox, Deborah Krakow, Daniel H. Cohn, W. Reardon, Peter H. Byers, Charles M. Lapière, Darwin J. Prockop, Betty V. Nusgens |
| 318-326 | The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency | David R. FitzPatrick, Alison Hill, John L. Tolmie, David R. Thorburn, John Christodoulou |
| 327-335 | Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry | Debra D. Hinson, Richard M. Ross, Skaidrite Krisans, Joanne L. Shaw, Viktor Kozich, Marie-Odile Rolland, Priscille Divry, Josette Mancini, Georg F. Hoffmann, K. Michael Gibson |
| 336-344 | Redefinition of Exon 7 in the COL1A1 | Ulrike Schwarze, Barbra J. Starman, Peter H. Byers |
| 345-352 | A Loss-of-Function Model for Cystogenesis in Human Autosomal Dominant Polycystic Kidney Disease Type 2 | Roser Torra, Cèlia Badenas, José L. San Millán, Laureano Pérez-Oller, Xavier Estivill, Alejandro Darnell |
| 353-359 | Molecular Characterization of CTNS | Lionel Forestier, Geneviève Jean, Marlene Attard, Stéphanie Cherqui, Cathryn Lewis, William van't Hoff, Michel Broyer, Margaret Town, Corinne Antignac |
| 360-369 | Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More Frequently in Male Germ Cells, but Point Mutations Do Not | Corinne Mimault, Geneviève Giraud, Virginie Courtois, Fabrice Cailloux, Jean Yves Boire, Bernard Dastugue, Odile Boespflug-Tanguy and Clinical European Network on Brain Dysmyelinating Disease |
| 370-386 | Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints | James M. Amos-Landgraf, Yonggang Ji, Wayne Gottlieb, Theresa Depinet, Amy E. Wandstrat, Suzanne B. Cassidy, Daniel J. Driscoll, Peter K. Rogan, Stuart Schwartz, Robert D. Nicholls |
| 387-396 | A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32 | Carole M. Brewer, Jack P. Leek, Andrew J. Green, Susan Holloway, David T. Bonthron, Alexander F. Markham, David R. FitzPatrick |
| 397-412 | A Genome Scan for Familial Combined Hyperlipidemia Reveals Evidence of Linkage with a Locus on Chromosome 11 | Bradley E. Aouizerat, Hooman Allayee, Rita M. Cantor, Richard C. Davis, Christopher D. Lanning, Ping-Zi Wen, Geesje M. Dallinga-Thie, Tjerk W.A. de Bruin, Jerome I. Rotter, Aldons J. Lusis |
| 413-419 | The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr | Maurice van Steensel, Frances J.D. Smith, Peter M. Steijlen, Irma Kluijt, Howard P. Stevens, Andrew Messenger, Hannie Kremer, M. Giles S. Dunnill, Cameron Kennedy, Colin S. Munro, Valerie R. Doherty, John A. McGrath, Seana P. Covello, Carrie M. Coleman, Jouni Uitto, W. H. Irwin McLean |
| 420-426 | Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3 | P.F. Worth, P. Giunti, C. Gardner-Thorpe, P.H. Dixon, M.B. Davis, N.W. Wood |
| 427-432 | A Gene for Lymphedema-Distichiasis Maps to 16q24.3 | J. Mangion, N. Rahman, S. Mansour, G. Brice, J. Rosbotham, A.H. Child, V.A. Murday, P.S. Mortimer, R. Barfoot, A. Sigurdsson, S. Edkins, M. Sarfarazi, K. Burnand, A.L. Evans, T.O. Nunan, M.R. Stratton, S. Jeffery |
| 433-440 | Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p11.2-11.1 | Andréa L. Sertié, Andreza V. Sousa, Silvio Steman, Rita C. Pavanello, M. Rita Passos-Bueno |
| 441-447 | Localization of a Gene for Familial Patella Aplasia-Hypoplasia (PTLAH) to Chromosome 17q21–22 | Massimo Mangino, Otto Sanchez, Isabella Torrente, Alessandro De Luca, Francesca Capon, Giuseppe Novelli, Bruno Dallapiccola |
| 448-462 | Multiplex-FISH for Pre- and Postnatal Diagnostic Applications | Sabine Uhrig, Simone Schuffenhauer, Christine Fauth, Antje Wirtz, Cornelia Daumer-Haas, Can Apacik, Monika Cohen, Jutta Müller-Navia, Thomas Cremer, Jan Murken, Michael R. Speicher |
| 463-473 | Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection | Claude Danan, Damien Sternberg, André Van Steirteghem, Cécile Cazeneuve, Philippe Duquesnoy, Claude Besmond, Michel Goossens, Willy Lissens, Serge Amselem |
| 474-482 | Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993 | Sarah L. White, Veronica R. Collins, Rory Wolfe, Maureen A. Cleary, Sara Shanske, Salvatore DiMauro, Hans-Henrik M. Dahl, David R. Thorburn |
| 483-492 | A Major Quantitative-Trait Locus for Mole Density Is Linked to the Familial Melanoma Gene CDKN2A: | Gu Zhu, David L. Duffy, Ann Eldridge, Marlene Grace, Carol Mayne, Louise O'Gorman, Joanne F. Aitken, Michael C. Neale, Nicholas K. Hayward, Adele C. Green, Nicholas G. Martin |
| 493-507 | A Genomic Screen of Autism: Evidence for a Multilocus Etiology | Neil Risch, Donna Spiker, Linda Lotspeich, Nassim Nouri, David Hinds, Joachim Hallmayer, Luba Kalaydjieva, Patty McCague, Sue Dimiceli, Tawna Pitts, Loan Nguyen, Joan Yang, Courtney Harper, Danielle Thorpe, Saritha Vermeer, Helena Young, Joan Hebert, Alice Lin, Joan Ferguson, Carla Chiotti, et al. | |
| 508-518 | Mitochondrial Genetic Analyses Suggest Selection against Maternal Lineages in Bipolar Affective Disorder | Richard Kirk, Robert A. Furlong, William Amos, Gillian Cooper, Judy S. Rubinsztein, Cathy Walsh, Eugene S. Paykel, David C. Rubinsztein |
| 519-530 | mtDNA History of the Cayapa Amerinds of Ecuador: Detection of Additional Founding Lineages for the Native American Populations | O. Rickards, C. Martínez-Labarga, J.K. Lum, G.F. De Stefano, R.L. Cann |
| 531-544 | Testing the Robustness of the Likelihood-Ratio Test in a Variance-Component Quantitative-Trait Loci–Mapping Procedure | David B. Allison, Michael C. Neale, Raffaella Zannolli, Nicholas J. Schork, Christopher I. Amos, John Blangero |
| 545-553 | Point and Interval Estimates of Marker Location in Radiation Hybrid Mapping | Heather M. Stringham, Michael Boehnke, Kenneth Lange |
| 555-558 | Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein | Aglaia Athanassiadou, Gerassimos Voutsinas, Lambrini Psiouri, Elisabeth Leroy, Mihael H. Polymeropoulos, Achilleas Ilias, George M. Maniatis, Thodoros Papapetropoulos |
| 558-562 | Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias | A.M. Lossi, J.M. Millán, L. Villard, C. Orellana, C. Cardoso, F. Prieto, M. Fontés, F. Martínez |
| 562-566 | A 22q11.2 Deletion That Excludes UFD1L | Sulagna C. Saitta, James M. McGrath, Holly Mensch, Tamim H. Shaikh, Elaine H. Zackai, Beverly S. Emanuel |
| 567-569 | De Novo BRCA1 | Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers, Michael McKay, Jane Armes, Margaret McCredie, Graham Giles, John L. Hopper, Deon Venter |
| 570-571 | X Chromosome–Inactivation Patterns Confirm the Late Timing of Monoamniotic-MZ Twinning | Smita Chitnis, Catherine Derom, Robert Vlietinck, Robert Derom, Joanita Monteiro, Peter K. Gregersen |
| 571-574 | Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin | Shagufta Khaliq, Abdul Hameed, Muhammed Ismail, S. Qasim Mehdi, David A.R. Bessant, Annette M. Payne, Shomi S. Bhattacharya |
| 575-578 | Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry | Heather C. Mefford, Lisa Baumbach, Ramesh C.K. Panguluri, Carolyn Whitfield-Broome, Csilla Szabo, Selena Smith, Mary-Claire King, Georgia Dunston, Dominique Stoppa-Lyonnet, Fernando Arena |
| 578-580 | Power Comparisons of the Transmission/Disequilibrium Test and Sib–Transmission/Disequilibrium-Test Statistics | John. C. Whittaker, Cathryn M. Lewis |
| 581 | Genetic Diseases of the Eye. | David S. Papermaster |
| 582 | Transcription Factors and Human Disease. | Marcia Budarf |
| 583-585 | Announcements | |
| 586 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 587-592 | Candidate-Gene Association Studies of Schizophrenia | M.C. O'Donovan, M.J. Owen |
| 593-598 | Monoamine Oxidase in Neuropsychiatry and Behavior | J.C. Shih, R.F. Thompson |
| 599-605 | Genetic Studies of Alcoholism and Substance Dependence | Theodore Reich, Anthony Hinrichs, Robert Culverhouse, Laura Bierut |
| 606-610 | The Challenges of Psychopharmacogenetics | Marco Catalano |
| 611-620 | A Stop-Codon Mutation in the Human mtDNA Cytochrome c | Claudio Bruno, Andrea Martinuzzi, Yingying Tang, Antoni L. Andreu, Francesco Pallotti, Eduardo Bonilla, Sara Shanske, Jin Fu, Carolyn M. Sue, Corrado Angelini, Salvatore DiMauro, Giovanni Manfredi |
| 621-634 | PEX13 | Yifei Liu, Jonas Björkman, Aaron Urquhart, Ronald J.A. Wanders, Denis I. Crane, Stephen J. Gould |
| 635-644 | Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A→G Splice-Donor–Site Mutation at Position +3 of the Collagenlike-Tail–Subunit Gene (COLQ | Kinji Ohno, Joan M. Brengman, Kevin J. Felice, David R. Cornblath, Andrew G. Engel |
| 645-655 | The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations | Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott, Uday C. Patel, Colette Rossier, Hartmut Engel, Armand Bottani, Divya Chandal, Jean-Louis Blouin, Jitendra V. Solanki, Karl-Heinz Grzeschik, Stylianos E. Antonarakis |
| 656-663 | Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies | Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Mutsuko Hayakawa, Atsushi Kanai, Masao Yamada |
| 664-670 | Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum | Dominique Campion, Cécile Dumanchin, Didier Hannequin, Bruno Dubois, Serge Belliard, Michèle Puel, Catherine Thomas-Anterion, Agnès Michon, Cosette Martin, Françoise Charbonnier, Grégory Raux, Agnès Camuzat, Christiane Penet, Valérie Mesnage, Maria Martinez, Françoise Clerget-Darpoux, Alexis Brice, Thierry Frebourg |
| 671-679 | Penetrances of BRCA1 1675delA and 1135insA with Respect to Breast Cancer and Ovarian Cancer | Anne Dørum, Ketil Heimdal, Eivind Hovig, Mats Inganäs, Pål Møller |
| 680-688 | FMR1 CGG-Repeat Instability in Single Sperm and Lymphocytes of Fragile-X Premutation Males | Sarah L. Nolin, George E. Houck Jr., Alice D. Gargano, Howard Blumstein, Carl S. Dobkin, W. Ted. Brown |
| 689-698 | EXT | Judith V.M.G. Bovée, Anne-Marie Cleton-Jansen, Wim Wuyts, Goedele Caethoven, Antonie H.M. Taminiau, Egbert Bakker, Wim Van Hul, Cees J. Cornelisse, Pancras C.W. Hogendoorn |
| 699-708 | Polymorphic X-Chromosome Inactivation of the Human TIMP1 | Catherine L. Anderson, Carolyn J. Brown |
| 709-721 | Severe Hepatic Fibrosis in Schistosoma mansoni | Alain J. Dessein, Dominique Hillaire, Nasr Eldin M.A. Elwali, Sandrine Marquet, Qurashi Mohamed-Ali, Adil Mirghani, Sandrine Henri, Ahmed A. Abdelhameed, Osman K. Saeed, Mubarak M.A. Magzoub, Laurent Abel |
| 722-727 | A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3 | Ahmed Bouhouche, Ali Benomar, Nazha Birouk, Angélique Mularoni, Farid Meggouh, Johann Tassin, Djamal Grid, Antoon Vandenberghe, Mohamed Yahyaoui, Taïeb Chkili, Alexis Brice, Eric LeGuern |
| 728-734 | The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27 | Peter A.J. Leegwater, Andrea A.M. Könst, Bertus Kuyt, Lodewijk A. Sandkuijl, SakkuBai Naidu, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap |
| 735-744 | Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4 | Bodo Grimbacher, Alejandro A. Schäffer, Steven M. Holland, Joie Davis, John I. Gallin, Harry L. Malech, T. Prescott Atkinson, Bernd H. Belohradsky, Rebecca H. Buckley, Fausto Cossu, Teresa Español, Ben-Zion Garty, Nuria Matamoros, Laurie A. Myers, Robert P. Nelson, Hans D. Ochs, Eleonore D. Renner, Nele Wellinghausen, Jennifer M. Puck |
| 745-751 | Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1 | Masaaki Mikami, Takeshi Yasuda, Akira Terao, Masayuki Nakamura, Shu-ichi Ueno, Hirotaka Tanabe, Toshihiro Tanaka, Teiichi Onuma, Yu-ichi Goto, Sunao Kaneko, Akira Sano |
| 752-756 | A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family | H.T.F.M. Verzijl, B. van den Helm, B. Veldman, B.C.J. Hamel, L.P. Kuyt, G.W. Padberg, H. Kremer |
| 757-763 | A New Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity | E. Reid, A.M. Dearlove, M. Rhodes, D.C. Rubinsztein |
| 764-772 | Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease) | Daniel H. Geschwind, Maxim Loginov, John M. Stern |
| 773-778 | Mapping of the Mucolipidosis Type IV Gene to Chromosome 19p and Definition of Founder Haplotypes | Susan A. Slaugenhaupt, James S. Acierno Jr., Lisa Anne Helbling, Catherine Bove, Ehud Goldin, Gideon Bach, Raphael Schiffmann, James F. Gusella |
| 779-783 | Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome | L.M. Brzustowicz, S. Farrell, M.B. Khan, R. Weksberg |
| 784-794 | Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer | S.A. Roberts, A.R. Spreadborough, B. Bulman, J.B.P. Barber, D.G.R. Evans, D. Scott |
| 795-807 | Interaction between the Functional Polymorphisms of the Alcohol-Metabolism Genes in Protection against Alcoholism | Chiao-Chicy Chen, Ru-Band Lu, Yi-Chyan Chen, Ming-Fang Wang, Yue-Cune Chang, Ting-Kai Li, Shih-Jiun Yin |
| 808-828 | Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations | Alan J. Redd, Mark Stoneking |
| 829-846 | Combined Use of Biallelic and Microsatellite Y-Chromosome Polymorphisms to Infer Affinities among African Populations | Rosaria Scozzari, Fulvio Cruciani, Piero Santolamazza, Patrizia Malaspina, Antonio Torroni, Daniele Sellitto, Barbara Arredi, Giovanni Destro-Bisol, Gianfranco De Stefano, Olga Rickards, Cristina Martinez-Labarga, David Modiano, Gianfranco Biondi, Pedro Moral, Antonel Olckers, Douglas C. Wallace, Andrea Novelletto |
| 847-857 | Direct Power Comparisons between Simple LOD Scores and NPL Scores for Linkage Analysis in Complex Diseases | Paula C. Abreu, David A. Greenberg, Susan E. Hodge |
| 858-875 | Assessment of Linkage Disequilibrium by the Decay of Haplotype Sharing, with Application to Fine-Scale Genetic Mapping | Mary Sara McPeek, Andrew Strahs |
| 876-884 | Replication of Linkage Studies of Complex Traits: An Examination of Variation in Location Estimates | Seth B. Roberts, Charles J. MacLean, Michael C. Neale, Lindon J. Eaves, Kenneth S. Kendler |
| 885-901 | Blocking Gibbs Sampling for Linkage Analysis in Large Pedigrees with Many Loops | Claus Skaanning Jensen, Augustine Kong |
| 902-909 | Transmitting Genetic Risk Information in Families: Attitudes about Disclosing the Identity of Relatives | J.T.R. Wilcke, N. Seersholm, A. Kok-Jensen, A. Dirksen |
| 911-913 | Absolute Pitch: Prevalence, Ethnic Variation, and Estimation of the Genetic Component | Peter K. Gregersen, Elena Kowalsky, Nina Kohn, Elizabeth West Marvin |
| 913-917 | Extremely Skewed X-Chromosome Inactivation Is Increased in Women with Recurrent Spontaneous Abortion | Karan K. Sangha, Mary D. Stephenson, Carolyn J. Brown, Wendy P. Robinson |
| 917-921 | Demonstration of the Recurrence of Marfan-like Skeletal and Cardiovascular Manifestations Due to Germline Mosaicism for an FBN1 | Gwenaëlle Collod-Béroud, Marilyn Lackmy-Port-Lys, Guillaume Jondeau, Michèle Mathieu, Yves Maingourd, Monique Coulon, Michel Guillotel, Claudine Junien, Catherine Boileau |
| 921-924 | The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients with Prostate Cancer | Ayala Hubert, Tamar Peretz, Orly Manor, Luna Kaduri, Naomi Wienberg, Israela Lerer, Michal Sagi, Dvorah Abeliovich |
| 924-926 | An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis | Martin J. Somerville, Kathleen A. Sprysak, Mark Hicks, Basil G. Elyas, Leanne Vicen-Wyhony |
| 926-928 | No Mutations in the Coding Region of the PRKCG | Thaddeus P. Dryja, Jennifer McEvoy, Terri L. McGee, Eliot L. Berson |
| 929-930 | Announcements | |
| 931 | Erratum | |
| i-ii | This Month in the Journal | John Ashkenas |
| 933-942 | New Solutions to an Ancient Riddle: Defining the Differences between Adam and Eve | Lori M. Roberts, Jennifer Shen, Holly A. Ingraham |
| 943-948 | Kallmann Syndrome and the Link between Olfactory and Reproductive Development | Elena I. Rugarli |
| 949-958 | Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors | Ana Claudia Latronico, Deborah L. Segaloff |
| 959-965 | STAT5 Signaling in Sexually Dimorphic Gene Expression and Growth Patterns | Helen W. Davey, Richard J. Wilkins, David J. Waxman |
| 966-973 | Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level | Fumiaki Tanaka, Matthew F. Reeves, Yasuhiro Ito, Michiyo Matsumoto, Mei Li, Shigeru Miwa, Akira Inukai, Masahiko Yamamoto, Manabu Doyu, Mari Yoshida, Yoshio Hashizume, Shin-ichi Terao, Terunori Mitsuma, Gen Sobue |
| 974-983 | Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes | Susanna Annunen, Jarmo Körkkö, Malwina Czarny, Matthew L. Warman, Han G. Brunner, Helena Kääriäinen, John B. Mulliken, Lisbeth Tranebjærg, David G. Brooks, Gerald F. Cox, Johan R. Cruysberg, Mary A. Curtis, Sandra L.H. Davenport, Christopher A. Friedrich, Ilkka Kaitila, Maciej Robert Krawczynski, Anna Latos-Bielenska, Shitzuo Mukai, Björn R. Olsen, Nancy Shinno, et al. | |
| 984-994 | Variegate Porphyria in Western Europe: Identification of PPOX | Sharon D. Whatley, Hervé Puy, Rhian R. Morgan, Anne-Marie Robreau, Andrew G. Roberts, Yves Nordmann, George H. Elder, Jean-Charles Deybach |
| 995-1006 | Are There Low-Penetrance TP53 | Jennifer M. Varley, Gail McGown, Mary Thorncroft, Louise A. James, Geoffrey P. Margison, Gill Forster, D. Gareth R. Evans, Martin Harris, Anna M. Kelsey, Jillian M. Birch |
| 1007-1020 | Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes | I. Schrijver, W. Liu, T. Brenn, H. Furthmayr, U. Francke |
| 1021-1029 | The Contribution of Germline BRCA1 and BRCA2 Mutations to Familial Ovarian Cancer: No Evidence for Other Ovarian Cancer–Susceptibility Genes | Simon A. Gayther, Paul Russell, Patricia Harrington, Antonis C. Antoniou, Douglas F. Easton, Bruce A.J. Ponder |
| 1030-1039 | A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy | Shamima Rahman, Jan-Willem Taanman, J. Mark Cooper, Isabelle Nelson, Ian Hargreaves, Brigitte Meunier, Michael G Hanna, José J. García, Roderick A. Capaldi, Brian D. Lake, James V. Leonard, Anthony H.V. Schapira |
| 1040-1046 | Temperature-Sensitive RB | Gregory A. Otterson, Sanjay Modi, Kari Nguyen, Amy B. Coxon, Frederic J. Kaye |
| 1047-1053 | Distribution of Two HIV-1–Resistant Polymorphisms (SDF1-3′A and CCR2-64I) in East Asian and World Populations and Its Implication in AIDS Epidemiology | Bing Su, Li Jin, Fang Hu, Junhua Xiao, Jingchun Luo, Daru Lu, Weiling Zhang, Jiayou Chu, Ruofu Du, Zhencheng Geng, Xinfang Qiu, Jinglun Xue, Jiazhen Tan, Stephen J. O'Brien, Ranajit Chakraborty |
| 1054-1059 | Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44 | Laurence Cuisset, Joost P.H. Drenth, Jean-Marie Berthelot, Alain Meyrier, Gérard Vaudour, Richard A. Watts, David G.I. Scott, Anne Nicholls, Sylvana Pavek, Christian Vasseur, Jacques S. Beckmann, Marc Delpech, Gilles Grateau |
| 1060-1067 | Genome Scan for Predisposing Loci for Distal Interphalangeal Joint Osteoarthritis: Evidence for a Locus on 2q | Jenni Leppävuori, Urho Kujala, Jaakko Kinnunen, Jaakko Kaprio, Martti Nissilä, Markku Heliövaara, Nina Klinger, Jukka Partanen, Joseph D. Terwilliger, Leena Peltonen |
| 1068-1077 | Investigation of a Family with Autosomal Dominant Dilated Cardiomyopathy Defines a Novel Locus on Chromosome 2q14-q22 | Martin Jung, Imke Poepping, Andreas Perrot, Annette E. Ellmer, Thomas F. Wienker, Rainer Dietz, André Reis, Karl Josef Osterziel |
| 1078-1085 | A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 | Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne Picard, Myriam Rosenberg-Bourgin, Jean-François Prud'homme, Michel Baulac, Alexis Brice, Eric LeGuern |
| 1086-1095 | Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25 | Ilona Visapää, Riitta Salonen, Teppo Varilo, Paulina Paavola, Leena Peltonen |
| 1096-1103 | Linkage of Familial Schizophrenia to Chromosome 13q32 | Linda M. Brzustowicz, William G. Honer, Eva W.C. Chow, Dawn Little, Jackie Hogan, Kathy Hodgkinson, Anne S. Bassett |
| 1104-1113 | A Novel Syndrome of Episodic Muscle Weakness Maps to Xp22.3 | Monique M. Ryan, Peter Taylor, Jennifer A. Donald, Robert A. Ouvrier, Graeme Morgan, Gytis Danta, Michael F. Buckley, Kathryn N. North |
| 1114-1124 | A Genomewide Screen for Schizophrenia Genes in an Isolated Finnish Subpopulation, Suggesting Multiple Susceptibility Loci | Iiris Hovatta, Teppo Varilo, Jaana Suvisaari, Joseph D. Terwilliger, Vesa Ollikainen, Ritva Arajärvi, Hannu Juvonen, Marja-Liisa Kokko-Sahin, Leena Väisänen, Heikki Mannila, Jouko Lönnqvist, Leena Peltonen |
| 1125-1133 | An Empirical Exploration of the (Δμ)2 Genetic Distance for 213 Human Microsatellite Markers | Gillian Cooper, William Amos, Richard Bellamy, Mahveen Ruby Siddiqui, Angela Frodsham, Adrian V.S. Hill, David C. Rubinsztein |
| 1134-1147 | Joint Multipoint Linkage Analysis of Multivariate Qualitative and Quantitative Traits. I. Likelihood Formulation and Simulation Results | Jeff T. Williams, Paul Van Eerdewegh, Laura Almasy, John Blangero |
| 1148-1160 | Joint Multipoint Linkage Analysis of Multivariate Qualitative and Quantitative Traits. II. Alcoholism and Event-Related Potentials | Jeff T. Williams, Henri Begleiter, Bernice Porjesz, Howard J. Edenberg, Tatiana Foroud, Theodore Reich, Alison Goate, Paul Van Eerdewegh, Laura Almasy, John Blangero |
| 1170-1177 | A Generalization of the Transmission/Disequilibrium Test for Uncertain-Haplotype Transmission | David Clayton |
| 1178-1193 | Genes, Demography, and Life Span: The Contribution of Demographic Data in Genetic Studies on Aging and Longevity | A.I. Yashin, G. De Benedictis, J.W. Vaupel, Q. Tan, K.F. Andreev, I.A. Iachine, M. Bonafe, M. DeLuca, S. Valensin, L. Carotenuto, C. Franceschi |
| 1195-1197 | SPERMSEG: Analysis of Segregation Distortion in Single-Sperm Data | Mary Sara McPeek |
| 1197-1199 | Cultural Difference and the Eugenics Law | Sun-Wei Guo |
| 1199 | Chinese Geneticists Are Far from Eugenics Movement | Zhu Chen, Ren-biao Chen, Ren-zong Qiu, Ruo-fu Du, Wilson H.Y. Lo |
| 1199-1201 | Reply to Guo and to Chen et al. | Xin Mao |
| 1201-1204 | The Duty to Recontact: Benefit and Harm | Neil F. Sharpe |
| 1204 | Reply to Sharpe | Jennifer L. Fitzpatrick, Marlene J. Huggins |
| 1204-1207 | The Choice to Have a Disabled Child | Susan Michie, Theresa M. Marteau |
| 1207-1208 | Reply to Michie and Marteau | A. Middleton, R.F. Mueller, J. Hewison |
| 1208-1210 | Using Exact P | Michael Knapp |
| 1211-1213 | Announcements | |
| 1214 | Errata | |
| 1214 | Errata | |
| 1161-1169 | Transmission/Disequilibrium Tests for Extended Marker Haplotypes | David Clayton, Hywel Jones |
| i-ii | This Month in the Journal | John Ashkenas |
| 1215-1221 | Functional and Structural Brain Abnormalities Associated with a Genetic Disorder of Speech and Language | Kate E Watkins, David G. Gadian, Faraneh Vargha-Khadem |
| 1222-1229 | Visuospatial Construction | Carolyn B. Mervis, Byron F. Robinson, John R. Pani |
| 1230-1237 | Yeast as a Model for Human mtDNA Replication | Gerald S. Shadel |
| 1238-1241 | Toward an Understanding of the Cause of Mitral Valve Prolapse | Jeffrey A. Towbin |
| 1242-1251 | Mapping of a First Locus for Autosomal Dominant Myxomatous Mitral-Valve Prolapse to Chromosome 16p11.2-p12.1 | Sandra Disse, Eric Abergel, Alain Berrebi, Anne-Marie Houot, Jean-Yves Le Heuzey, Benoît Diebold, Louis Guize, Alain Carpentier, Pierre Corvol, Xavier Jeunemaitre |
| 1252-1260 | Mutations in NPC1 | WL Greer, MJ Dobson, GS Girouard, DM Byers, DC Riddell, PE Neumann |
| 1261-1267 | The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer | Elise Héon, Megan Priston, Daniel F. Schorderet, Gail D. Billingsley, Philippe Othenin Girard, Nicolette Lubsen, Francis L. Munier |
| 1268-1278 | Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia | I. Quack, B. Vonderstrass, M. Stock, AS Aylsworth, A. Becker, L. Brueton, PJ Lee, F. Majewski, JB Mulliken, M. Suri, M. Zenker, S. Mundlos, F. Otto |
| 1279-1290 | Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1 | Carol Hardy, Farhat Khanim, Rosarelis Torres, Martin Scott-Brown, Anneke Seller, Joanna Poulton, David Collier, Jeremy Kirk, Mihael Polymeropoulos, Farida Latif, Timothy Barrett |
| 1291-1298 | Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 | Ying Wu, Maran J.W. Berends, Rob G.J. Mensink, Claudia Kempinga, Rolf H. Sijmons, Ate G.J. van der Zee, Harry Hollema, Jan H. Kleibeuker, Charles H.C.M. Buys, Robert M.W. Hofstra |
| 1299-1307 | A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies) | Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer, Arseni Markov, Vanya Nedkova, Ivailo Tournev, Lidia Aneva, Richard Gitzelmann |
| 1308-1320 | The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events | Johanna C. Moolman-Smook, Willem J. De Lange, Eduard C.D. Bruwer, Paul A. Brink, Valerie A. Corfield |
| 1321-1329 | Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype | Gilles Millat, Christophe Marçais, Mohammad A. Rafi, Toshiyuki Yamamoto, Jill A. Morris, Peter G. Pentchev, Kousaku Ohno, David A. Wenger, Marie T. Vanier |
| 1330-1341 | High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene | Neil V. Morgan, Alex J. Tipping, Hans Joenje, Christopher G. Mathew |
| 1342-1348 | Constitutional Mutations of the hSNF5/INI1 | Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider, Rupert Handgretinger, Olivier Delattre |
| 1349-1358 | The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness | Antonio Torroni, Fulvio Cruciani, Chiara Rengo, Daniele Sellitto, Núria López-Bigas, Raquel Rabionet, Nancy Govea, Adolfo López de Munain, Maritza Sarduy, Lourdes Romero, Manuela Villamar, Ignacio del Castillo, Felipe Moreno, Xavier Estivill, Rosaria Scozzari |
| 1359-1367 | Methylation Imprinting of H19 | K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T. Akashi, N. Niikawa, T. Ishimaru, Y. Jinno |
| 1368-1374 | Transfection of BLM | Nathan A. Ellis, Maria Proytcheva, Maureen M. Sanz, Tian-Zhang Ye, James German |
| 1375-1386 | Hypomethylation of an Expanded FMR1 | Robert W. Burman, Phillip A. Yates, Lindsay D. Green, Peter B. Jacky, Mitchell S. Turker, Bradley W. Popovich |
| 1387-1395 | Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome | Laurie A. Christ, Carol A. Crowe, Mark A. Micale, Jeffrey M. Conroy, Stuart Schwartz |
| 1396-1400 | Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33 | Bruno Moulard, Denys Chaigne, Dominique Mouthon, Catherine Buresi, Michel Guipponi, Alain Malafosse |
| 1401-1405 | An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p | Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni Amendola, Arcangela Moretti, Leopoldo Zelante, Achille Iolascon |
| 1406-1412 | A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 | Edwin Reyniers, Patrick Van Bogaert, Nils Peeters, Lieve Vits, Fernand Pauly, Erik Fransen, Nicole Van Regemorter, R. Frank Kooy |
| 1413-1422 | Pseudoautosomal Linkage of Hodgkin Disease | Marshall Horwitz, Peter H. Wiernik |
| 1423-1427 | Interindividual Variation in Mitotic Recombination | Deborah Holt, Monica Dreimanis, Marie Pfeiffer, Frank Firgaira, Alec Morley, David Turner |
| 1428-1436 | A Complete Genome Screen in Sib Pairs Affected by Gilles de la Tourette Syndrome | The Tourette Syndrome Association International Consortium for Genetics |
| 1437-1448 | Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism | Matthew E. Hurles, Reiner Veitia, Eduardo Arroyo, Manuel Armenteros, Jaume Bertranpetit, Anna Pérez-Lezaun, Elena Bosch, Maria Shlumukova, Anne Cambon-Thomsen, Ken McElreavey, Adolfo López de Munain, Arne Röhl, Ian J. Wilson, Lalji Singh, Arpita Pandya, Fabrício R. Santos, Chris Tyler-Smith, Mark A. Jobling |
| 1449-1456 | On a Randomization Procedure in Linkage Analysis | Hongyu Zhao, Kathleen R. Merikangas, Kenneth K. Kidd |
| 1457-1459 | About the “Pathological” Role of the mtDNA T3308C Mutation… | Hugo Rocha, Carlos Flores, Yolanda Campos, Joaquín Arenas, Laura Vilarinho, Filippo M. Santorelli, Antonio Torroni |
| 1459-1462 | Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 | Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik-Schöneborn, Gisela Stoltenburg-Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner |
| 1462-1465 | Further Evidence for a Susceptibility Locus on Chromosome 20q13.11 in Families with Dominant Transmission of Graves Disease | Simon H.S. Pearce, Bijayeswar Vaidya, Helen Imrie, Petros Perros, William F. Kelly, Anthony D. Toft, Mark I. McCarthy, Eric T. Young, Pat Kendall-Taylor |
| 1465-1469 | Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 | C. Ruth Jamieson, Cédric Govaerts, Marc J. Abramowicz |
| 1469-1473 | Association of RET | Guido Fitze, Matthias Schreiber, Eberhard Kuhlisch, Hans K. Schackert, Dietmar Roesner |
| 1473-1475 | The Sex Ratio in Familial Persistent Stuttering | Dennis Drayna, James Kilshaw, Jennifer Kelly |
| 1476-1477 | IQ and Human Intelligence. | Robert Plomin |
| 1477-1478 | A Means to an End: The Biological Basis of Aging and Death. | George M. Martin |
| 1479-1481 | Announcements | |
| 1482-1485 | American Board of Medical Genetics and American Board of Genetic Counseling Diplomates | |
| 1486 | Errata | |
| 1486 | Errata | |
| 1486 | Errata | |
| i-ii | This Month in the Journal | John Ashkenas |
| 1487-1488 | A Look Back | |
| 1489-1492 | The Size Distribution of Homozygous Segments in the Human Genome | Andrew G. Clark |
| 1493-1500 | Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain | Karl W. Broman, James L. Weber |
| 1501-1507 | Phenotypes in Three Pedigrees with Autosomal Dominant Obesity Caused by Haploinsufficiency Mutations in the Melanocortin-4 Receptor Gene | Mani Sina, Anke Hinney, Andreas Ziegler, Tanja Neupert, Hermann Mayer, Wolfgang Siegfried, Werner F. Blum, Helmut Remschmidt, Johannes Hebebrand |
| 1508-1519 | Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii | Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin, Anne-Marie Bridoux, Valère Cacheux, Gilles Roger, Annick Clément, Michel Goossens, Serge Amselem, Bénédicte Duriez |
| 1520-1529 | Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 | Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang, Isa Houwink-Manville, Hae-Ri Song, Ruthie E. Amir, Sarojini Budden, SakkuBai Naidu, Jose Luiz P. Pereira, Ivan F.M. Lo, Huda Y. Zoghbi, N. Carolyn Schanen, Uta Francke |
| 1530-1537 | Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes | Michaela Floeth, Leena Bruckner-Tuderman |
| 1538-1546 | Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome | Lihua Ying, Yitzhak Katz, Menachem Schlesinger, Rivka Carmi, Hanna Shalev, Neena Haider, Gretel Beck, Val C. Sheffield, Daniel Landau |
| 1547-1560 | The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene | William B. Rizzo, Gael Carney, Zhili Lin |
| 1561-1571 | Mutation Detection of PKD1 | Terry Watnick, Bunyong Phakdeekitcharoen, Ann Johnson, Michael Gandolph, Mei Wang, Gary Briefel, Katherine W. Klinger, William Kimberling, Patricia Gabow, Gregory G. Germino |
| 1572-1579 | Mutation Rates in Humans. I. Overall and Sex-Specific Rates Obtained from a Population Study of Hemophilia B | P.M. Green, S. Saad, C.M. Lewis, F. Giannelli |
| 1580-1587 | Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B | F. Giannelli, T. Anagnostopoulos, P.M. Green |
| 1588-1594 | A 28-kb Deletion Spanning D15S63 | Karin Buiting, Bärbel Dittrich, Bernd Dworniczak, Israela Lerer, Dvorah Abeliovich, Sally Cottrell, I. Karen Temple, John F. Harvey, Christina Lich, Stephanie Groß, Bernhard Horsthemke |
| 1595-1607 | Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families | Tamim H. Shaikh, Marcia L. Budarf, Livija Celle, Elaine H. Zackai, Beverly S. Emanuel |
| 1608-1616 | A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation | L. Edelmann, E. Spiteri, N. McCain, R. Goldberg, R.K. Pandita, S. Duong, J. Fox, D. Blumenthal, S.R. Lalani, L.G. Shaffer, B.E. Morrow |
| 1617-1622 | Accelerated Telomere Shortening in the Human Inactive X Chromosome | Jordi Surrallés, M. Prakash Hande, Ricard Marcos, Peter M. Lansdorp |
| 1623-1638 | Variation in Short Tandem Repeats Is Deeply Structured by Genetic Background on the Human Y Chromosome | Elena Bosch, Francesc Calafell, Fabrício R. Santos, Anna Pérez-Lezaun, David Comas, Noufissa Benchemsi, Chris Tyler-Smith, Jaume Bertranpetit |
| 1639-1646 | Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 | Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra Ott, Raman Sood, Ann Van Auken, Joan Bailey-Wilson, Xiaoguang Wang, Reshma J. Patel, Christiane M. Robbins, Mina Chung, Geralyn Annett, Kenneth Weinberg, Mark S. Borchert, Jeffrey M. Trent, Michael J. Brownstein, J. Timothy Stout |
| 1647-1655 | Linkage of Inflammatory Bowel Disease to Human Chromosome 6p | Jochen Hampe, Sarah H. Shaw, Robert Saiz, Nancy Leysens, Annette Lantermann, Silvia Mascheretti, Nicholas J. Lynch, Andrew J.S. MacPherson, Stephen Bridger, Sander van Deventer, Pieter Stokkers, Phil Morin, Mudassar M. Mirza, Alastair Forbes, John E. Lennard-Jones, Christopher G. Mathew, Mark E. Curran, Stefan Schreiber |
| 1656-1665 | Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2 | Fiona E. Karet, Karin E. Finberg, Ahmet Nayir, Aysin Bakkaloglu, Seza Ozen, Sally A. Hulton, Sami A. Sanjad, Essam A. Al-Sabban, Juan F. Medina, Richard P. Lifton |
| 1666-1671 | Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity | Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi |
| 1672-1679 | Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1 | Nicholas Katsanis, Richard A. Lewis, David W. Stockton, Phuong M.T. Mai, Lisa Baird, Philip L. Beales, Mark Leppert, James R. Lupski |
| 1680-1687 | A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1 | Terry-Lynn Young, Michael O. Woods, Patrick S. Parfrey, Jane S. Green, Donna Hefferton, William S. Davidson |
| 1688-1697 | Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1 | Hiro-aki Tomita, Shinichiro Nagamitsu, Keiko Wakui, Yoshimitsu Fukushima, Koki Yamada, Miyuki Sadamatsu, Akira Masui, Tohru Konishi, Toyojiro Matsuishi, Masao Aihara, Katsunori Shimizu, Kiyoshi Hashimoto, Mari Mineta, Michihito Matsushima, Takahiro Tsujita, Masaaki Saito, Hajime Tanaka, Shoji Tsuji, Toshihisa Takagi, Yusuke Nakamura, et al. | |
| 1698-1710 | Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12 | Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J. Hudson, Richard Desbiens, Georges Patry, Simon Verret, Pierre Langevin, Suha Mercho, Marie-Hélène Seni, Ingrid Scheffer, François Dubeau, Samuel F. Berkovic, Frederick Andermann, Eva Andermann, Massimo Pandolfo |
| 1711-1717 | Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 | Amos Toren, Ninette Amariglio, Galit Rozenfeld-Granot, Amos J. Simon, Frida Brok-Simoni, Elon Pras, Gideon Rechavi |
| 1718-1724 | Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age | Bing Su, Junhua Xiao, Peter Underhill, Ranjan Deka, Weiling Zhang, Joshua Akey, Wei Huang, Di Shen, Daru Lu, Jingchun Luo, Jiayou Chu, Jiazhen Tan, Peidong Shen, Ron Davis, Luca Cavalli-Sforza, Ranajit Chakraborty, Momiao Xiong, Ruofu Du, Peter Oefner, Zhu Chen, et al. | |
| 1725-1732 | The Genetic Epidemiology of Early-Onset Epithelial Ovarian Cancer: A Population-Based Study | John F. Stratton, Deborah Thompson, Lynda Bobrow, Neha Dalal, Martin Gore, D.T. Bishop, Ian Scott, Gareth Evans, Peter Daly, Douglas F. Easton, Bruce A.J. Ponder |
| 1733-1740 | An Optimal Algorithm for Automatic Genotype Elimination | Jeffrey R. O'Connell, Daniel E. Weeks |
| 1760-1769 | A General Conditional-Logistic Model for Affected-Relative-Pair Linkage Studies | Jane M. Olson |
| 1771-1775 | Modeling the Probability That Ashkenazi Jewish Women Carry a Founder Mutation in BRCA1 or BRCA2 | John L. Hopper, Mark A. Jenkins |
| 1775 | Response to the Letters from Hopper and Jenkins and Foulkes et al. | Sholom Wacholder, Patricia Hartge |
| 1776-1778 | The Importance of a Family History of Breast Cancer in Predicting the Presence of a BRCA | William D. Foulkes, Jean-Sébastien Brunet, Ellen Warner, Pamela J. Goodwin, Wendy Meschino, Steven A. Narod, Paul E. Goss, Gordon Glendon |
| 1779-1782 | DNA Sequence Variants of p53: | Yu Sun, Channa Keshava, Dan S. Sharp, Ainsley Weston, Erin C. McCanlies |
| 1782-1785 | p53 Codon 72 Polymorphism and Longevity: Additional Data on Centenarians from Continental Italy and Sardinia | Massimiliano Bonafè, Fabiola Olivieri, Daniela Mari, Giovannella Baggio, Rosario Mattace, Maurizio Berardelli, Paolo Sansoni, Giovanna De Benedictis, Maria De Luca, Francesca Marchegiani, Luca Cavallone, Maurizio Cardelli, Simona Giovagnetti, Luigi Ferrucci, Loredana Amadio, Rosamaria Lisa, Maria Giovanna Tucci, Leonarda Troiano, Gabriella Pini, Paola Gueresi, et al. | |
| 1785-1790 | Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites | Stacey Bolk, Erik G. Puffenberger, Jim Hudson, D. Holmes Morton, Aravinda Chakravarti |
| 1790-1794 | Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas | Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup |
| 1795-1797 | Stratification Analysis of an Osteoarthritis Genome Screen—Suggestive Linkage to Chromosomes 4, 6, and 16 | John Loughlin, Zehra Mustafa, Catherine Irven, Anne Smith, Andrew J. Carr, Bryan Sykes, Kay Chapman |
| 1798-1800 | Evidence for Interaction between Psoriasis-Susceptibility Loci on Chromosomes 6p21 and 1q21 | Francesca Capon, Sabrina Semprini, Bruno Dallapiccola, Giuseppe Novelli |
| 1800-1802 | Founder BRCA1/2 | Jeffery P. Struewing, Zakia M. Coriaty, Elaine Ron, Alejandro Livoff, Mirian Konichezky, Pat Cohen, Murray B. Resnick, Beatriz Lifzchiz-Mercerl, Sylvia Lew, Jose Iscovich |
| 1803-1806 | Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia | Arti Pandya, Xia-Juan Xia, Raadnabazar Erdenetungalag, Michael Amendola, Barbara Landa, Janchiv Radnaabazar, Begzsuren Dangaasuren, Glenn Van Tuyle, Walter E. Nance |
| 1807-1808 | Human Genetics: Choice and Responsibility | Dorothy C. Wertz |
| 1809-1811 | Announcements | |
| 1812 | Erratum | |
| 1813-1819 | Editorial Reviewers for 1999 | |
| 1820-1829 | Author Index for Volume 65 | |
| 1830-1838 | Subject Index for Volume 65 | |
| 1741-1759 | Linkage Detection Adaptive to Linkage Disequilibrium: The Disequilibrium Maximum-Likelihood–Binomial Test for Affected-Sibship Data | Jian Huang, Yanming Jiang |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-2 | In the Beginning… | James V. Neel |
| 3-5 | A New Millennium and a New Editor | Stephen T. Warren |
| 6-15 | Elevated Levels of FMR1 | Flora Tassone, Randi J. Hagerman, Annette K. Taylor, Louise W. Gane, Tony E. Godfrey, Paul J. Hagerman |
| 16-25 | Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) | Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. Speicher, Patrick J. Willems, Thomas Meitinger, R. Frank Kooy |
| 26-35 | De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10 | Silvère M. van der Maarel, Giancarlo Deidda, Richard J.L.F. Lemmers, Petra G.M. van Overveld, Michiel van der Wielen, Jane E. Hewitt, Lodewijk Sandkuijl, Bert Bakker, Gert-Jan B. van Ommen, George W. Padberg, Rune R. Frants |
| 36-46 | Duplication of 7p11.2-p13, Including GRB10 | David Monk, Emma L Wakeling, Virginia Proud, Megan Hitchins, Sayeda N. Abu-Amero, Philip Stanier, Michael A. Preece, Gudrun E Moore |
| 47-68 | A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23 | Risa Peoples, Yvonne Franke, Yu-Ker Wang, Luis Pérez-Jurado, Tamar Paperna, Michael Cisco, Uta Francke |
| 69-83 | Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene | Alan R. Templeton, Andrew G. Clark, Kenneth M. Weiss, Deborah A. Nickerson, Eric Boerwinkle, Charles F. Sing |
| 84-91 | Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents | M.T. Sgambati, C. Stolle, P.L. Choyke, M.M. Walther, B. Zbar, W.M. Linehan, G.M. Glenn |
| 92-99 | Structure of the SLC7A7 | Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Rossella Parini, Miranda Candito, Fumio Endo, Andrea Ballabio, Generoso Andria, Gianfranco Sebastio, Giuseppe Borsani |
| 100-109 | NF1 | Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen H. Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza |
| 110-117 | High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes | Ulrich Finckh, Tomas Müller-Thomsen, Ulrike Mann, Christian Eggers, Josef Marksteiner, Wolfgang Meins, Giuliano Binetti, Antonella Alberici, Christoph Hock, Roger M. Nitsch, Andreas Gal |
| 118-127 | Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree | Heymut Omran, Carmen Fernandez, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, Matthias Brandis, Franz Rüschendorf, André Reis, Friedhelm Hildebrandt |
| 128-135 | Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31 | George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore |
| 136-142 | Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q | Bert B.A. de Vries, Willem F.M. Arts, Guido J. Breedveld, Jeannette J.M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink |
| 143-147 | Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3 | Mohsen Ghadami, Yoshio Makita, Kunihiro Yoshida, Gen Nishimura, Yoshimitsu Fukushima, Keiko Wakui, Shiro Ikegawa, Koki Yamada, Shinji Kondo, Norio Niikawa, Hiro-aki Tomita |
| 148-156 | The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14 | Duanxiang Li, Ferhaan Ahmad, Martin J. Gardner, Donald Weilbaecher, Rita Hill, Akihiko Karibe, Oscar Gonzalez, Terry Tapscott, Geoffrey P. Sharratt, Linda L. Bachinski, Robert Roberts |
| 157-166 | A Cholesterol-Lowering Gene Maps to Chromosome 13q | Hans Knoblauch, Bertram Müller-Myhsok, Andreas Busjahn, Liat Ben Avi, Sylvia Bähring, Heike Baron, Simon C. Heath, Regina Uhlmann, Hans-Dieter Faulhaber, Shoshi Shpitzen, Atakan Aydin, Ayeleth Reshef, Magda Rosenthal, Osnat Eliav, Astrid Mühl, Adam Lowe, Danny Schurr, Dror Harats, Evi Jeschke, Yechiel Friedlander, et al. | |
| 167-175 | Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing | Anne Girardet, Mary Sara McPeek, Esther P. Leeflang, Francis Munier, Norman Arnheim, Mireille Claustres, Franck Pellestor |
| 176-186 | Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype? | James S. Palmer, David L. Duffy, Neil F. Box, Joanne F. Aitken, Louise E. O'Gorman, Adele C. Green, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm |
| 187-195 | Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema | Norihiro Yamada, Mutsuo Yamaya, Shoji Okinaga, Katsutoshi Nakayama, Kiyohisa Sekizawa, Shigeki Shibahara, Hidetada Sasaki |
| 196-204 | The Number of Trait Loci in Late-Onset Alzheimer Disease | E. Warwick Daw, Haydeh Payami, Ellen J. Nemens, David Nochlin, Thomas D. Bird, Gerard D. Schellenberg, Ellen M. Wijsman |
| 205-215 | Full-Genome Scan for Linkage in 50 Families Segregating the Bipolar Affective Disease Phenotype | Carl Friddle, Rebecca Koskela, Koustubh Ranade, Joan Hebert, Michele Cargill, Chris D. Clark, Melvin McInnis, Sylvia Simpson, Francis McMahon, O. Colin Stine, Deborah Meyers, Jianfeng Xu, Dean MacKinnon, Theresa Swift-Scanlan, Kay Jamison, Susan Folstein, Mark Daly, Leonid Kruglyak, Thomas Marr, J. Raymond DePaulo, et al. | |
| 216-234 | Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations | Katrina A.B. Goddard, Penelope J. Hopkins, Jeff M. Hall, John S. Witte |
| 235-250 | High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution | Duncan M. Baird, Joanna Coleman, Zoë H. Rosser, Nicola J. Royle |
| 251-261 | The Use of Case-Parent Triads to Study Joint Effects of Genotype and Exposure | David M. Umbach, Clarice R. Weinberg |
| 262-278 | Geographic Patterns of mtDNA Diversity in Europe | Lucia Simoni, Francesc Calafell, Davide Pettener, Jaume Bertranpetit, Guido Barbujani |
| 279-292 | A General Test of Association for Quantitative Traits in Nuclear Families | G.R. Abecasis, L.R. Cardon, W.O.C. Cookson |
| 293-307 | Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination | Mark A. Hall, Stephen S. Rich |
| 309-312 | Isoform-Specific Imprinting of the Human PEG1/MEST | Kenjiro Kosaki, Rika Kosaki, William J. Craigen, Nobutake Matsuo |
| 312-319 | Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome | E. Belloni, G. Martucciello, D. Verderio, E. Ponti, M. Seri, V. Jasonni, M. Torre, M. Ferrari, L.-C. Tsui, S.W. Scherer |
| 319-326 | A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q | Sharola Dharmaraj, Yingying Li, Johane M. Robitaille, Eduardo Silva, Danping Zhu, Thomas N. Mitchell, Lara P. Maltby, Agnes B. Baffoe-Bonnie, Irene H. Maumenee |
| 326-330 | A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 | Young-Ae Lee, Howard P. Stevens, Emmanuel Delaporte, Ulrich Wahn, André Reis |
| 330-332 | Transmission-Ratio Distortion at Xp11.4-p21.1 in Type 1 Diabetes | Patrizia Zavattari, Laura Esposito, Sarah Nutland, John A. Todd, Francesco Cucca |
| 332-335 | Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect | C. Macmillan, T.A. Johns, K. Fu, E.A. Shoubridge |
| 335-338 | Testing for Linkage Disequilibrium, Maternal Effects, and Imprinting with (In)complete Case-Parent Triads, by Use of the Computer Program LEM | Edwin J.C.G. van den Oord, Jeroen K. Vermunt |
| 339 | Genetic Disorders of Human Sexual Development | Ken McElreavey |
| 340-345 | Announcements | |
| 346 | Erratum | |
| 346 | Erratum | |
| 346 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 347-355 | Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations | Margaret E. Chamberlin, Tsuneyuki Ubagai, S. Harvey Mudd, Janet Thomas, Vivian Y. Pao, Thien K. Nguyen, Harvey L. Levy, Carol Greene, Cynthia Freehauf, Janice Yang Chou |
| 356-367 | Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD | Jerry Vockley, Peter K. Rogan, Bambi D. Anderson, Jan Willard, Ratnam S. Seelan, David I. Smith, Wanguo Liu |
| 368-377 | Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene | Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala-Kokko |
| 378-392 | Mutations in the AIRE | Petra Björses, Maria Halonen, Jorma J. Palvimo, Meelis Kolmer, Johanna Aaltonen, Pekka Ellonen, Jaakko Perheentupa, Ismo Ulmanen, Leena Peltonen |
| 393-401 | Toward a Survey of Somatic Mutation of the NF1 | Ingrid Eisenbarth, Kim Beyer, Winfrid Krone, Günter Assum |
| 402-412 | Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome | M. Witsch-Baumgartner, B.U. Fitzky, M. Ogorelkova, H.G. Kraft, F.F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G.F. Hoffmann, P. Clayton, R.I. Kelley, G. Utermann |
| 413-418 | Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations | Rubin D.L. Hundscheid, Erik A. Sistermans, Chris M.G. Thomas, Didi D.M. Braat, Huub Straatman, Lambertus A.L.M. Kiemeney, Ben A. Oostra, Arie P.T. Smits |
| 419-427 | Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen | Marjorie J. Rosenberg, David Vaske, Christina E. Killoran, Yi Ning, David Wargowski, Louanne Hudgins, Cynthia J. Tifft, Jeanne Meck, Jan K. Blancato, Kenneth Rosenbaum, Richard M. Pauli, James Weber, Leslie G. Biesecker |
| 428-435 | Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42 | Martin Brockington, Caroline A. Sewry, Ralf Herrmann, Isam Naom, Andrew Dearlove, Michael Rhodes, Haluk Topaloglu, Victor Dubowitz, Thomas Voit, Francesco Muntoni |
| 436-444 | Familial Syndromic Esophageal Atresia Maps to 2p23-p24 | Jacopo Celli, Ellen van Beusekom, Raoul C.M. Hennekam, M. Esther Gallardo, Dominique F.C.M. Smeets, Santiago Rodríguez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John Tolmie, Lutgarde C.P. Govaerts, Hans van Bokhoven, Han G. Brunner |
| 445-452 | Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3 | M. Kambouris, S. Bohlega, A. Al-Tahan, B.F. Meyer |
| 453-460 | A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 | Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo Pintus, Andrej Nikoshkov, Giovanni Zuliani, Renato Fellin, Holger Luthman, Mario Maioli |
| 461-468 | X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3 | Craig L. Bennett, Ritsuko Yoshioka, Hidenori Kiyosawa, David F. Barker, Pamela R. Fain, Ann O. Shigeoka, Phillip F. Chance |
| 469-479 | A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27 | Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J. Sciote, Donald Goldstein, Thomas C. Hart |
| 480-493 | Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population | Dana C. Crawford, Charles E. Schwartz, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Chris Gunter, W. Ted Brown, Nancy J. Carpenter, Patricia N. Howard-Peebles, Kristin G. Monaghan, Sarah L. Nolin, Allan L. Reiss, Gerald L. Feldman, Elizabeth M. Rohlfs, Stephen T. Warren, Stephanie L. Sherman |
| 494-500 | ATM | Annegien Broeks, Jos H.M. Urbanus, Arno N. Floore, Ellen C. Dahler, Jan G.M. Klijn, Emiel J. Th. Rutgers, Peter Devilee, Nicola S. Russell, Flora E. van Leeuwen, Laura J. van't Veer |
| 501-507 | Fine Localization of a Major Disease-Susceptibility Locus for Diffuse Panbronchiolitis | Naoto Keicho, Jun Ohashi, Gen Tamiya, Koichiro Nakata, Yoshio Taguchi, Arata Azuma, Nobuya Ohishi, Mitsuru Emi, Myoung Hee Park, Hidetoshi Inoko, Katsushi Tokunaga, Shoji Kudoh |
| 508-516 | Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy | David A. Greenberg, Martina Durner, Mehdi Keddache, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sibylle Wallace, Daniel Luciano, Karen Ballaban-Gil, Livia Tomasini, Guilian Zhou, Irene Klotz, Elisa Dicker |
| 517-526 | Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations | Carole Ober, Stephanie A. Leavitt, Anya Tsalenko, Timothy D. Howard, Danessa M. Hoki, Rajeev Daniel, Dina L. Newman, Xiaodong Wu, Rodney Parry, Lucille A. Lester, Julian Solway, Malcolm Blumenthal, Richard A. King, Jianfeng Xu, Deborah A. Meyers, Eugene R. Bleecker, Nancy J. Cox |
| 527-538 | Individual Estimates of European Genetic Admixture Associated with Lower Body-Mass Index, Plasma Glucose, and Prevalence of Type 2 Diabetes in Pima Indians | Robert C. Williams, Jeffrey C. Long, Robert L. Hanson, Maurice L. Sievers, William C. Knowler |
| 539-546 | Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer | Rebecca Berry, Daniel J. Schaid, Jeffrey R. Smith, Amy J. French, Jennifer J. Schroeder, Shannon K. McDonnell, Brett J. Peterson, Zheng-Yuan Wang, John D. Carpten, Steven G. Roberts, David J. Tester, Michael L. Blute, Jeffrey M. Trent, Stephen N. Thibodeau |
| 547-556 | Genome Screening in Human Systemic Lupus Erythematosus: Results from a Second Minnesota Cohort and Combined Analyses of 187 Sib-Pair Families | Patrick M. Gaffney, Ward A. Ortmann, Scott A. Selby, Katherine B. Shark, Theresa C. Ockenden, Kristine E. Rohlf, Nichole L. Walgrave, Wade P. Boyum, Michelle L. Malmgren, Michael E. Miller, Grainne M. Kearns, Ronald P. Messner, Richard A. King, Stephen S. Rich, Timothy W. Behrens |
| 557-566 | Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping | Sigbjørn Lien, Joanna Szyda, Birgit Schechinger, Gudrun Rappold, Norm Arnheim |
| 567-575 | Effects of Stratification in the Analysis of Affected-Sib-Pair Data: Benefits and Costs | Suzanne M. Leal, Jurg Ott |
| 576-592 | Removing the Sampling Restrictions from Family-Based Tests of Association for a Quantitative-Trait Locus | S.A. Monks, N.L. Kaplan |
| 593-604 | The Relationship between the Sibling Recurrence-Risk Ratio and Genotype Relative Risk | Benjamin A. Rybicki, Robert C. Elston |
| 605-614 | Family-Based Tests of Association and Linkage That Use Unaffected Sibs, Covariates, and Interactions | Kathryn L. Lunetta, Stephen V. Faraone, Joseph Biederman, Nan M. Laird |
| 615-628 | A Coalescent Approach to Study Linkage Disequilibrium between Single-Nucleotide Polymorphisms | Sebastian Zöllner, Arndt von Haeseler |
| 629-650 | Estimation of Variance Components of Quantitative Traits in Inbred Populations | Mark Abney, Mary Sara McPeek, Carole Ober |
| 651-658 | New Estimates of Intergenerational Time Intervals for the Calculation of Age and Origins of Mutations | Marc Tremblay, Hélène Vézina |
| 674-686 | Y Chromosomes Traveling South: The Cohen Modal Haplotype and the Origins of the Lemba—the “Black Jews of Southern Africa” | Mark G. Thomas, Tudor Parfitt, Deborah A. Weiss, Karl Skorecki, James F. Wilson, Magdel le Roux, Neil Bradman, David B. Goldstein |
| 687-691 | The X Chromosome Frequently Lags Behind in Female Lymphocyte Anaphase | Julia Catalán, Ghita C.-M. Falck, Hannu Norppa |
| 692-697 | Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data | Roberto Colombo |
| 698-701 | A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2 | I. Lopes-Cendes, I.E. Scheffer, S.F. Berkovic, M. Rousseau, E. Andermann, G.A. Rouleau |
| 702-707 | A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34 | Bertrand Fontaine, Claire-Sophie Davoine, Alexandra Dürr, Caroline Paternotte, Imed Feki, Jean Weissenbach, Jamilé Hazan, Alexis Brice |
| 708-714 | Absence of Significant Linkage between Phonological Coding Dyslexia and Chromosome 6p23-21.3, as Determined by Use of Quantitative-Trait Methods: Confirmation of Qualitative Analyses | Tracey L. Petryshen, Bonnie J. Kaplan, Ming Fu Liu, L. Leigh Field |
| 715-723 | Chromosome 6p Influences on Different Dyslexia-Related Cognitive Processes: Further Confirmation | Elena L. Grigorenko, Frank B. Wood, Marianne S. Meyer, David L. Pauls |
| 724-727 | A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 | Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, Gwen Turner, Robert F. Mueller, Nicholas J. Lench, C. Geoffrey Woods |
| 728-732 | A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13 | E. Reid, A.M. Dearlove, O. Osborn, M.T. Rogers, D.C. Rubinsztein |
| 733-739 | Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel | Meral Topçu, Corine Gartioux, Florence Ribierre, Cengiz Yalçinkaya, Erem Tokus, Nese Öztekin, Jacques S. Beckmann, Meral Ozguc, Eric Seboun |
| 740-743 | Application and Interpretation of Transmission/Disequilibrium Tests: Transmission of HLA-DQ Haplotypes to Unaffected Siblings in 526 Families with Type 1 Diabetes | Benedicte A. Lie, Kjersti S. Rønningen, Hanne E. Akselsen, Erik Thorsby, Dag E. Undlien |
| 744 | The 1298(A→C) Mutation of Methylenetetrahydrofolate Reductase Should Be Designated to the 1289 Position of the Gene | James G. Donnelly |
| 744-745 | Reply to Donnelly | Nathalie M.J. van der Put, Henk J. Blom |
| 745-747 | Special Oversight Groups to Add Protections for Population-Based Repository Samples | Judith H. Greenberg |
| 747-748 | Letter to Human Genetics Journals | Segolene Ayme |
| 749-752 | Announcements | |
| 753 | Erratum | |
| 753 | Erratum | |
| 753 | Erratum | |
| 753 | Erratum | |
| 659-673 | Haplotype Fine Mapping by Evolutionary Trees | Johnny C. Lam, Kathryn Roeder, B. Devlin |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 755-760 | James V. Neel, M.D., Ph.D. (March 22, 1915–January 31, 2000): Founder Effect | K.M. Weiss, R.H. Ward |
| 761-767 | Genetic Testing in Adoption | The American Society of Human Genetics Social Issues Committee and The American College of Medical Genetics Social Ethical, and Legal Issues Committee |
| 768-777 | Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome | Rivka L. Glaser, Wen Jiang, Simeon A. Boyadjiev, Alissa K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinead Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wang Jabs |
| 778-789 | Characterization of the NPHP1 | Sophie Saunier, Joaquim Calado, France Benessy, Flora Silbermann, Roland Heilig, Jean Weissenbach, Corinne Antignac |
| 790-818 | Minor Lesion Mutational Spectrum of the Entire NF1 | Raimund Fahsold, Sven Hoffmeyer, Claudia Mischung, Christoph Gille, Christian Ehlers, Nazan Kücükceylan, Maher Abdel-Nour, Andreas Gewies, Hartmut Peters, Dieter Kaufmann, Annegret Buske, Sigrid Tinschert, Peter Nürnberg |
| 819-829 | An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus | John B Vincent, Maria L. Neves-Pereira, Andrew D. Paterson, Etsuko Yamamoto, Sagar V. Parikh, Fabio Macciardi, Hugh M.D. Gurling, Steve G. Potkin, Carlos N. Pato, Antonio Macedo, Maria Kovacs, Marilyn Davies, Jeffrey A. Lieberman, Herbert Y. Meltzer, Arturas Petronis, James L. Kennedy |
| 830-840 | High Germinal Instability of the (CTG)n at the SCA8 | I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P. Maciel, J.M. Fidalgo de Matos, M. Costa, C. Barbot, A. Tuna, J. Barros, L. Jardim, P. Coutinho, J. Sequeiros |
| 841-847 | Relaxation of Insulin-like Growth Factor 2 Imprinting and Discordant Methylation at KvDMR1 in Two First Cousins Affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber Syndromes | Maria Pia Sperandeo, Paola Ungaro, Maria Vernucci, Paolo V. Pedone, Flavia Cerrato, Lucia Perone, Stefano Casola, Maria Vittoria Cubellis, Carmelo B. Bruni, Generoso Andria, Gianfranco Sebastio, Andrea Riccio |
| 848-858 | Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control | Syann Lee, Rachel Wevrick |
| 859-872 | Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein | Aleksander Hinek, Adam C. Smith, Eva Maria Cutiongco, John W. Callahan, Karen W. Gripp, Rosanna Weksberg |
| 873-891 | Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease-Causing Point Mutations | Renee P. Stokowski, David R. Cox |
| 892-903 | A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36 | Xinping Yang, Chaowen She, Jingzhi Guo, Albert CH Yu, Yingjin Lu, XiaoLiu Shi, Guoying Feng, Lin He |
| 904-913 | Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity | Judith Fischer, Alexandra Faure, Bakar Bouadjar, Claudine Blanchet-Bardon, Aysen Karaduman, Isabelle Thomas, Serap Emre, Susan Cure, Meral Özgüc, Jean Weissenbach, Jean-François Prud'homme |
| 914-921 | Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping | Stéphane Chavanas, Chad Garner, Christine Bodemer, Mohsin Ali, Dominique Hamel- Teillac, John Wilkinson, Jean-Louis Bonafé, Mauro Paradisi, David P. Kelsell, Shin-ichi Ansai, Yoshihiko Mitsuhashi, Marc Larrègue, Irene M. Leigh, John I. Harper, Alain Taïeb, Yves de Prost, Lon R. Cardon, Alain Hovnanian |
| 922-932 | Fine Mapping of the Chromosome 12 Late-Onset Alzheimer Disease Locus: Potential Genetic and Phenotypic Heterogeneity | W.K. Scott, J.M. Grubber, P.M. Conneally, G.W. Small, C.M. Hulette, C.K. Rosenberg, A.M. Saunders, A.D. Roses, J.L. Haines, M.A. Pericak-Vance |
| 933-944 | A Genome Screen of Multiplex Sibships with Prostate Cancer | Brian K. Suarez, Jennifer Lin, James K. Burmester, Karl W. Broman, James L. Weber, Tarit K. Banerjee, Katrina A.B. Goddard, John S. Witte, Robert C. Elston, William J. Catalona |
| 945-957 | Combined Analysis of Hereditary Prostate Cancer Linkage to 1q24-25 | Jianfeng Xu and the International Consortium for Prostate Cancer Genetics |
| 958-968 | Multipoint Estimation of Genetic Maps for Human Trisomies with One Parent or Other Partial Data | Eleanor Feingold, Amanda Savage Brown, Stephanie L. Sherman |
| 969-978 | Significant Admixture Linkage Disequilibrium across 30 cM around the FY Locus in African Americans | James A. Lautenberger, J. Claiborne Stephens, Stephen J. O'Brien, Michael W. Smith |
| 979-988 | The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data | L.B. Jorde, W.S. Watkins, M.J. Bamshad, M.E.Dixon, C.E. Ricker, M.T. Seielstad, M.A. Batzer |
| 989-998 | mtDNA Affinities of the Peoples of North-Central Mexico | Lance D. Green, James N. Derr, Alec Knight |
| 999-1016 | mtDNA and the Origin of the Icelanders: Deciphering Signals of Recent Population History | Agnar Helgason, Sigrún Sigurðardóttir, Jeffrey R. Gulcher, Ryk Ward, Kári Stefánsson |
| 1017-1026 | Phylogenetic Network of the mtDNA Haplogroup U in Northern Finland Based on Sequence Analysis of the Complete Coding Region by Conformation-Sensitive Gel Electrophoresis | Saara Finnilä, Ilmo E. Hassinen, Leena Ala-Kokko, Kari Majamaa |
| 1027-1045 | QTL Fine Mapping by Measuring and Testing for Hardy-Weinberg and Linkage Disequilibrium at a Series of Linked Marker Loci in Extreme Samples of Populations | Hong-Wen Deng, Wei-Min Chen, Robert R. Recker |
| 1046-1061 | A Two-Stage Variable-Stringency Semiparametric Method for Mapping Quantitative-Trait Loci with the Use of Genomewide-Scan Data on Sib Pairs | Saurabh Ghosh, Partha P. Majumder |
| 1062-1075 | The Trimmed-Haplotype Test for Linkage Disequilibrium | Charles J. MacLean, Rory B. Martin, Pak C. Sham, Huan Wang, Richard E. Straub, Kenneth S. Kendler |
| 1076-1094 | Statistical Tests for Detection of Misspecified Relationships by Use of Genome-Screen Data | Mary Sara McPeek, Lei Sun |
| 1095-1106 | Linkage Analysis in the Presence of Errors I: Complex-Valued Recombination Fractions and Complex Phenotypes | Harald H.H. Göring, Joseph D. Terwilliger |
| 1107-1118 | Linkage Analysis in the Presence of Errors II: Marker-Locus Genotyping Errors Modeled with Hypercomplex Recombination Fractions | Harald H.H. Göring, Joseph D. Terwilliger |
| 1132-1137 | Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 | Elina Virolainen, Maija Wessman, Iiris Hovatta, Kirsti-Maria Niemi, Jaakko Ignatius, Juha Kere, Leena Peltonen, Aarno Palotie |
| 1138-1144 | Cloning, Sequencing, and Analysis of Inv8 Chromosome Breakpoints Associated with Recombinant 8 Syndrome | Sharon L. Graw, Timothy Sample, John Bleskan, Eva Sujansky, David Patterson |
| 1145-1148 | A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters | Franco Laccone, Wilhelm Christian |
| 1149-1152 | Analysis of Aneuploidy Frequencies in Sperm from Patients with Hereditary Nonpolyposis Colon Cancer and an hMSH2 Mutation | R.H. Martin, J. Green, E. Ko, L. Barclay, A.W. Rademaker |
| 1153-1157 | Exact Multipoint Quantitative-Trait Linkage Analysis in Pedigrees by Variance Components | Stephen C. Pratt, Mark J. Daly, Leonid Kruglyak |
| 1158-1160 | The Transmission/Disequilibrium Test for Linkage on the X Chromosome | Gloria Y.F. Ho, Joan E. Bailey-Wilson |
| 1161-1167 | The Transmission/Disequilibrium Test and Parental-Genotype Reconstruction for X-Chromosomal Markers | Steve Horvath, Nan M. Laird, Michael Knapp |
| 1168-1172 | Gamete-Competition Models | Janet S. Sinsheimer, John Blangero, Kenneth Lange |
| 1173-1177 | mtDNA Haplogroups and Frequency Patterns in Europe | Antonio Torroni, Martin Richards, Vincent Macaulay, Peter Forster, Richard Villems, Søren Nørby, Marja-Liisa Savontaus, Kirsi Huoponen, Rosaria Scozzari, Hans-Jürgen Bandelt |
| 1177-1179 | Reconstruction of Prehistory on the Basis of Genetic Data | Lucia Simoni, Francesc Calafell, Davide Pettener, Jaume Bertranpetit, Guido Barbujani |
| 1180-1184 | Announcements | |
| 1185 | Erratum | |
| 1186 | Erratum | |
| 1119-1131 | Bias and Efficiency in Family-Based Gene-Characterization Studies: Conditional, Prospective, Retrospective, and Joint Likelihoods | Peter Kraft, Duncan C. Thomas |
| i-iii | This Month in the Journal | Kathryn Beauregard |
| 1187-1189 | My Year as 1999 ASHG President | Uta Francke |
| 1190-1191 | Some Future Directions in Medical Genetics | Arno G. Motulsky |
| 1192-1198 | Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C | Rebecca A. Speckman, Abhimanyu Garg, Fenghe Du, Lynda Bennett, Rose Veile, Elif Arioglu, Simeon I. Taylor, Michael Lovett, Anne M. Bowcock |
| 1199-1210 | Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa | M.D. Weston, J.D. Eudy, S. Fujita, S.-F. Yao, S. Usami, C. Cremers, J. Greenburg, R. Ramesar, A. Martini, C. Moller, R.J. Smith, J. Sumegi, William J. Kimberling |
| 1211-1220 | Similar Splice-Site Mutations of the ATP7A | Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn |
| 1221-1228 | Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB | Lisiane B. Meira, John M. Graham Jr, Cheryl R. Greenberg, David B. Busch, Ana T.B. Doughty, Deborah W. Ziffer, Donna M. Coleman, Isabelle Savre-Train, Errol C. Friedberg |
| 1229-1236 | Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q | Hatem El-Shanti, Andrew C. Lidral, Nadim Jarrah, Lawrence Druhan, Kamel Ajlouni |
| 1237-1245 | A Major Susceptibility Locus Influencing Plasma Triglyceride Concentrations Is Located on Chromosome 15q in Mexican Americans | Ravindranath Duggirala, John Blangero, Laura Almasy, Thomas D. Dyer, Kenneth L. Williams, Robin J. Leach, Peter O'Connell, Michael P. Stern |
| 1246-1258 | Effects of HFE | J.B. Whitfield, L.M. Cullen, E.C. Jazwinska, L.W. Powell, A.C. Heath, G. Zhu, D.L. Duffy, N.G. Martin |
| 1259-1272 | BRCA1 | Roxana Moslehi, William Chu, Beth Karlan, David Fishman, Harvey Risch, Abbie Fields, David Smotkin, Yehuda Ben-David, Jacalyn Rosenblatt, Donna Russo, Peter Schwartz, Nadine Tung, Ellen Warner, Barry Rosen, Jan Friedman, Jean-Sébastien Brunet, Steven A. Narod |
| 1273-1286 | Multilocus Linkage Tests Based on Affected Relative Pairs | Heather J. Cordell, Geoffrey C. Wedig, Kevin B. Jacobs, Robert C. Elston |
| 1287-1297 | A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data | Julie A. Douglas, Michael Boehnke, Kenneth Lange |
| 1298-1309 | Linkage Analysis in the Presence of Errors III: Marker Loci and Their Map as Nuisance Parameters | Harald H.H. Göring, Joseph D. Terwilliger |
| 1310-1327 | Linkage Analysis in the Presence of Errors IV: Joint Pseudomarker Analysis of Linkage and/or Linkage Disequilibrium on a Mixture of Pedigrees and Singletons When the Mode of Inheritance Cannot Be Accurately Specified | Harald H.H. Göring, Joseph D. Terwilliger |
| 1328-1340 | Detection of Disease Genes by Use of Family Data. I. Likelihood-Based Theory | Alice S. Whittemore, I-Ping Tu |
| 1341-1350 | Detection of Disease Genes by Use of Family Data. II. Application to Nuclear Families | I-Ping Tu, Raymond R. Balise, Alice S. Whittemore |
| 1351-1361 | Evidence for Variable Selective Pressures at MC1R | Rosalind M. Harding, Eugene Healy, Amanda J. Ray, Nichola S. Ellis, Niamh Flanagan, Carol Todd, Craig Dixon, Antti Sajantila, Ian J. Jackson, Mark A. Birch-Machin, Jonathan L. Rees |
| 1362-1383 | mtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations | Yu-Sheng Chen, Antonel Olckers, Theodore G. Schurr, Andreas M. Kogelnik, Kirsi Huoponen, Douglas C. Wallace |
| 1384-1397 | The Frequency of Heteroplasmy in the HVII Region of mtDNA Differs across Tissue Types and Increases with Age | Cassandra D. Calloway, Rebecca L. Reynolds, George L. Herrin Jr, Wyatt W. Anderson |
| 1398-1402 | Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen | Lieve Nuytinck, Margarida Freund, Lieven Lagae, Gerald E. Pierard, Trinh Hermanns-Le, Anne De Paepe |
| 1403-1406 | Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 | Michael D. Taylor, Nalan Gokgoz, Irene L. Andrulis, Todd G. Mainprize, James M. Drake, James T. Rutka |
| 1407-1412 | Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi, Pietro Tonali, Marina Mora, Lucia Morandi, Alessandro Romorini, Thomas Voit, Karen Helene Orstavik, Luciano Merlini, Carlo Trevisan, Valerie Biancalana, Irena Housmanowa-Petrusewicz, Silvia Bione, Roberta Ricotti, Ketty Schwartz, Giselle Bonne, Daniela Toniolo |
| 1413-1416 | Segregation Analysis in Shwachman-Diamond Syndrome: Evidence for Recessive Inheritance | H. Ginzberg, J. Shin, L. Ellis, S. Goobie, J. Morrison, M. Corey, P.R. Durie, J.M. Rommens |
| 1417-1419 | Surnames and the Y Chromosome | Bryan Sykes, Catherine Irven |
| 1420-1425 | Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1 | Sally A. Feather, Sue Malcolm, Adrian S. Woolf, Victoria Wright, Diana Blaydon, Christopher J.D. Reid, Frances A. Flinter, Willem Proesmans, Koen Devriendt, Joan Carter, Paul Warwicker, Timothy H.J. Goodship, Judith A. Goodship |
| 1426-1431 | A Juvenile-Onset, Progressive Cataract Locus on Chromosome 3q21-q22 Is Associated with a Missense Mutation in the Beaded Filament Structural Protein–2 | Yvette P. Conley, Deniz Erturk, Andrew Keverline, Tammy S. Mah, Annahita Keravala, Laura R. Barnes, Anna Bruchis, John F. Hess, P.G. FitzGerald, Daniel E. Weeks, Robert E. Ferrell, Michael B. Gorin |
| 1432-1436 | Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2 | Petra M. Jakobs, John F. Hess, Paul G. FitzGerald, Patricia Kramer, Richard G. Weleber, Michael Litt |
| 1437-1442 | A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred | Franziska M. Häfner, Ambar A. Salam, Thomas E. Linder, Damina Balmer, Allessandra Baumer, Albert A. Schinzel, Thomas Spillmann, Suzanne M. Leal |
| 1443-1448 | Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q | Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman |
| 1449-1454 | The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1 | John A. Martignetti, Karen E. Heath, Juliette Harris, Nicola Bizzaro, Anna Savoia, Carlo L. Balduini, Robert J. Desnick |
| 1455-1460 | A Novel X-Linked Dominant Condition: X-Linked Congenital Isolated Ptosis | Tristan F.W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O. Robinson |
| 1461-1464 | Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter | Wenzheng Zhang, Ruthie Amir, David W. Stockton, Ignatia B. Van den Veyver, Carlos A. Bacino, Huda Y. Zoghbi |
| 1465-1467 | Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 | N. López-Bigas, R. Rabionet, E. Martinez, O. Bravo, J. Girons, A. Borragan, M. Pellicer, M.L. Arbonés, X. Estivill |
| 1467 | Reply to López-Bigas et al. | Arti Pandya, Walter E. Nance |
| 1468 | The HLA Component of Type I Diabetes | Francoise Clerget-Darpoux |
| 1469-1471 | Announcements | |
| 1472 | Erratum | |
| 1472 | Erratum | |
| 1472 | Erratum | |
| 1472 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1473-1484 | Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, | M. Alders, A. Ryan, M. Hodges, J. Bliek, A.P. Feinberg, O. Privitera, A. Westerveld, P.F.R. Little, M. Mannens |
| 1485-1495 | Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens–Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator–Mediated Regulation of Separate Channels | John E. Mickle, MichałI. Milewski, Milan Macek, Garry R. Cutting |
| 1496-1503 | Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 | Renaud L. Touraine, Tania Attié-Bitach, Eric Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Féréchté Encha-Razavi, Anna Pelet, Joelle Augé, Annie Nivelon-Chevallier, Alexander Mathias Holschneider, Marc Munnes, Walter Doerfler, Michel Goossens, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet |
| 1504-1515 | Mutation Analysis and Embryonic Expression of the HLXB9 | D.M. Hagan, A.J. Ross, T. Strachan, S.A. Lynch, V. Ruiz-Perez, Y.M. Wang, P. Scambler, E. Custard, W. Reardon, S. Hassan, M. Muenke, P. Nixon, C. Papapetrou, R.M. Winter, Y. Edwards, K. Morrison, M. Barrow, M.P. Cordier-Alex, P. Correia, P.A. Galvin-Parton, et al. | |
| 1516-1521 | Comparative Genomic Hybridization in Combination with Flow Cytometry Improves Results of Cytogenetic Analysis of Spontaneous Abortions | Brenda Lomax, Steven Tang, Evica Separovic, Don Phillips, E. Hillard, Tom Thomson, Dagmar K. Kalousek |
| 1522-1530 | The Ile198Thr and Ala379Val Variants of Plasmatic Paf-Acetylhydrolase Impair Catalytical Activities and Are Associated with Atopy and Asthma | Susanne Kruse, Xiao-Quan Mao, Andrea Heinzmann, Sabine Blattmann, Mark H. Roberts, Sandra Braun, Pei-Song Gao, Johannes Forster, Joachim Kuehr, Julian M. Hopkin, Taro Shirakawa, Klaus A. Deichmann |
| 1531-1539 | Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 | Andrew Escayg, Michel De Waard, David D. Lee, Delphine Bichet, Peter Wolf, Thomas Mayer, Janine Johnston, Robert Baloh, Thomas Sander, Miriam H. Meisler |
| 1540-1551 | Localization of the Fanconi Anemia Complementation Group D Gene to a 200-kb Region on Chromosome 3p25.3 | James A. Hejna, Cynthia D. Timmers, Carol Reifsteck, Donald A. Bruun, Lora W. Lucas, Petra M. Jakobs, SuEllen Toth-Fejel, Nancy Unsworth, Susan L. Clemens, Dawn K. Garcia, Susan L. Naylor, Mathew J. Thayer, Susan B. Olson, Markus Grompe, Robb E. Moses |
| 1552-1557 | Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 | Federico Zara, Elena Gennaro, Mariano Stabile, Ilaria Carbone, Michela Malacarne, Luigi Majello, Roberto Santangelo, Fabrizio Antonio de Falco, Franca Dagna Bricarelli |
| 1558-1568 | Glycerol as a Correlate of Impaired Glucose Tolerance: Dissection of a Complex System by Use of a Simple Genetic Trait | Daniel Gaudet, Steve Arsenault, Louis Pérusse, Marie-Claude Vohl, Julie St.-Pierre, Jean Bergeron, Jean-Pierre Després, Ken Dewar, Mark J. Daly, Tom Hudson, John D. Rioux |
| 1569-1579 | Association between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population | Mika Rämet, Ritva Haataja, Riitta Marttila, Joanna Floros, Mikko Hallman |
| 1580-1588 | Characteristics and Frequency of Germline Mutations at Microsatellite Loci from the Human Y Chromosome, as Revealed by Direct Observation in Father/Son Pairs | Manfred Kayser, Lutz Roewer, Minttu Hedman, Lotte Henke, Jürgen Henke, Silke Brauer, Carmen Krüger, Michael Krawczak, Marion Nagy, Tadeusz Dobosz, Reinhard Szibor, Peter de Knijff, Mark Stoneking, Antti Sajantila |
| 1589-1598 | Persistent Heteroplasmy of a Mutation in the Human mtDNA Control Region: Hypermutation as an Apparent Consequence of Simple-Repeat Expansion/Contraction | Neil Howell, Christy Bogolin Smejkal |
| 1599-1609 | The Mutation Rate in the Human mtDNA Control Region | Sigrún Sigurðardóttir, Agnar Helgason, Jeffrey R. Gulcher, Kári Stefansson, Peter Donnelly |
| 1610-1615 | Equivalence of Single- and Multilocus Markers: Power to Detect Linkage with Composite Markers Derived from Biallelic Loci | Alexander F. Wilson, Alexa J.M. Sorant |
| 1616-1630 | Power of Linkage versus Association Analysis of Quantitative Traits, by Use of Variance-Components Models, for Sibship Data | P.C. Sham, S.S. Cherny, S. Purcell, J.K. Hewitt |
| 1631-1641 | A Unified Sampling Approach for Multipoint Analysis of Qualitative and Quantitative Traits in Sib Pairs | Kung-Yee Liang, Chiung-Yu Huang, Terri H. Beaty |
| 1642-1660 | Composite Statistics for QTL Mapping with Moderately Discordant Sibling Pairs | William F. Forrest, Eleanor Feingold |
| 1661-1668 | Power Comparison of Parametric and Nonparametric Linkage Tests in Small Pedigrees | Pak Chung Sham, Ming-Wei Lin, Jing Hua Zhao, David Curtis |
| 1669-1679 | Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus | Martha T. Hamblin, Anna Di Rienzo |
| 1680-1683 | Women with a Reduced Ovarian Complement May Have an Increased Risk for a Child with Down Syndrome | Sallie B. Freeman, Quanhe Yang, Katherine Allran, Lisa F. Taft, Stephanie L. Sherman |
| 1684-1688 | An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH | Jorge Azofeifa, Christine Fauth, Jürgen Kraus, Christine Maierhofer, Sabine Langer, Andreas Bolzer, Jay Reichman, Simone Schuffenhauer, Michael R. Speicher |
| 1689-1692 | DNA Pooling in Mutation Detection with Reference to Sequence Analysis | Christopher I. Amos, Marsha L. Frazier, Wenfu Wang |
| 1693-1698 | Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria | Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A. Wanderer, Richard D. Kolodner |
| 1699-1704 | Linkage of a Gene for Familial Hypobetalipoproteinemia to Chromosome 3p21.1-22 | B. Yuan, R. Neuman, S.H. Duan, J.L. Weber, P.Y. Kwok, N.L. Saccone, J.S. Wu, K.-Y. Liu, G. Schonfeld |
| 1705-1709 | The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1 | Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya, Aslıhan Tolun |
| 1710-1714 | Evidence for a New Graves Disease Susceptibility Locus at Chromosome 18q21 | Bijayeswar Vaidya, Helen Imrie, Petros Perros, Eric T. Young, William F. Kelly, David Carr, David M. Large, Anthony D. Toft, Pat Kendall-Taylor, Simon H.S. Pearce |
| 1715-1720 | Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications | Shrawan Kumar, Karen Deffenbacher, Henri A.M. Marres, Cor W.R.J. Cremers, William J. Kimberling |
| 1721-1722 | Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome | Mark R.H. Buddles, Rosemary L. Donne, Anna Richards, Judith Goodship, Timothy H.J. Goodship |
| 1722 | Reply to Buddles et al. | Val C. Sheffield, Lihua Ying, Rivka Carmi, Daniel Landau |
| 1725 | Analysis of Human Genetic Linkage, Third Edition. | Michael Boehnke |
| 1726-1727 | Announcements | |
| 1728 | Erratum | |
| 1728 | Erratum | |
| 1728 | Erratum | |
| 1728 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1729-1735 | Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics | Katrina M. Dipple, Edward R.B. McCabe |
| 1736-1743 | Identification of the α-Aminoadipic Semialdehyde Synthase Gene, Which Is Defective in Familial Hyperlysinemia | Katherine A. Sacksteder, Barbara J. Biery, James C. Morrell, Barbara K. Goodman, Brian V. Geisbrecht, Rody P. Cox, Stephen J. Gould, Michael T. Geraghty |
| 1744-1756 | A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency | Claudine M. De Praeter, Gerrit J. Gerwig, Ernst Bause, Lieve K. Nuytinck, Johannes F.G. Vliegenthart, Wilhelm Breuer, Johannis P. Kamerling, Marc F. Espeel, Jean-Jacques R. Martin, Anne M. De Paepe, Nora Wen Chun Chan, Georges A. Dacremont, Rudy N. Van Coster |
| 1757-1765 | Null Alleles of the COL5A1 | Ulrike Schwarze, Mary Atkinson, Guy G. Hoffman, Daniel S. Greenspan, Peter H. Byers |
| 1766-1776 | COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS | Richard J. Wenstrup, Jane B. Florer, Marcia C. Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole |
| 1777-1786 | Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease | Vuk Koprivica, Deborah L Stone, Joseph K. Park, Megan Callahan, Amos Frisch, Ian J. Cohen, Nahid Tayebi, Ellen Sidransky |
| 1787-1793 | Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes | Sue Ann Berend, Juli Horwitz, Christopher McCaskill, Lisa G. Shaffer |
| 1794-1806 | Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere | Peter E. Warburton, Marisa Dolled, Radma Mahmood, Alicia Alonso, Shulan Li, Kenji Naritomi, Takaya Tohma, Toshiro Nagai, Tomonobu Hasegawa, Hirofumi Ohashi, Lutgarde C.P. Govaerts, Bert H.J. Eussen, Jan O. Van Hemel, Carmen Lozzio, Stuart Schwartz, Jennifer J. Dowhanick-Morrissette, Nancy B. Spinner, Horacio Rivera, John A. Crolla, Chih-yu Yu, et al. | |
| 1807-1820 | Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole | Michael V. Zaragoza, Urvashi Surti, Raymond W. Redline, Elise Millie, Aravinda Chakravarti, Terry J. Hassold |
| 1821-1832 | Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations | George A. Diaz, Bruce D. Gelb, Neil Risch, Torbjoern G. Nygaard, Amos Frisch, Ian J. Cohen, Clara Sa Miranda, Olga Amaral, Irene Maire, Livia Poenaru, Catherine Caillaud, Moishe Weizberg, Pram Mistry, Robert J. Desnick |
| 1833-1844 | Localization of Psoriasis-Susceptibility Locus PSORS1 to a 60-kb Interval Telomeric to HLA-C | Rajan P. Nair, Philip Stuart, Tilo Henseler, Stefan Jenisch, Nicholas V.C. Chia, Eckhard Westphal, Nicholas J. Schork, Jane Kim, Henry W. Lim, Enno Christophers, John J. Voorhees, James T. Elder |
| 1845-1856 | Evidence of Linkage of Familial Hypoalphalipoproteinemia to a Novel Locus on Chromosome 11q23 | E.N. Kort, D.G. Ballinger, W. Ding, S.C. Hunt, B.R. Bowen, V. Abkevich, K. Bulka, B. Campbell, C. Capener, A. Gutin, K. Harshman, M. McDermott, T. Thorne, H. Wang, B. Wardell, J. Wong, P.N. Hopkins, M. Skolnick, M. Samuels |
| 1857-1862 | High-Density Genome Scan in Crohn Disease Shows Confirmed Linkage to Chromosome 14q11-12 | Richard H. Duerr, M. Michael Barmada, Leilei Zhang, Roland Pfützer, Daniel E. Weeks |
| 1863-1870 | Genomewide Search in Canadian Families with Inflammatory Bowel Disease Reveals Two Novel Susceptibility Loci | John D. Rioux, Mark S. Silverberg, Mark J. Daly, A. Hillary Steinhart, Robin S. McLeod, Anne M. Griffiths, Todd Green, Thomas S. Brettin, Valerie Stone, Shelley B. Bull, Alain Bitton, C. Noel Williams, Gordon R. Greenberg, Zane Cohen, Eric S. Lander, Thomas J. Hudson, Katherine A. Siminovitch |
| 1871-1881 | Genomewide Search for Type 2 Diabetes Susceptibility Genes in Four American Populations | Margaret Gelder Ehm, Maha C. Karnoub, Hakan Sakul, Kirby Gottschalk, Donald C. Holt, James L. Weber, David Vaske, David Briley, Linda Briley, Jan Kopf, Patrick McMillen, Quan Nguyen, Melanie Reisman, Eric H. Lai, Geoff Joslyn, Nancy S. Shepherd, Callum Bell, Michael J. Wagner, Daniel K. Burns and the American Diabetes Association GENNID Study Group |
| 1882-1899 | Haplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, | Judith R. Kidd, Andrew J. Pakstis, Hongyu Zhao, Ru-Band Lu, Friday E. Okonofua, Adekunle Odunsi, Elena Grigorenko, Batsheva Bonne- Tamir, Jonathan Friedlaender, Leslie O. Schulz, Josef Parnas, Kenneth K. Kidd |
| 1900-1904 | Intragenic Inversion of mtDNA: A New Type of Pathogenic Mutation in a Patient with Mitochondrial Myopathy | Olimpia Musumeci, Antoni L. Andreu, Sara Shanske, Nereo Bresolin, Giacomo P. Comi, Rodney Rothstein, Eric A. Schon, Salvatore DiMauro |
| 1905-1910 | Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness | Yelena Bykhovskaya, Xavier Estivill, Kent Taylor, Tieu Hang, Melanie Hamon, Rosaria A.M.S. Casano, Huiying Yang, Jerome I. Rotter, Mordechai Shohat, Nathan Fischel-Ghodsian |
| 1911-1926 | Characterization of Human Crossover Interference | Karl W. Broman, James L. Weber |
| 1927-1932 | Genomic Differentiation of Neanderthals and Anatomically Modern Man Allows a Fossil–DNA-Based Classification of Morphologically Indistinguishable Hominid Bones | Michael Scholz, Lutz Bachmann, Graeme J. Nicholson, Jutta Bachmann, Ian Giddings, Barbara Rüschoff-Thale, Alfred Czarnetzki, Carsten M. Pusch |
| 1933-1944 | The Power of Genomic Control | Silviu-Alin Bacanu, B. Devlin, Kathryn Roeder |
| 1945-1957 | Parametric and Nonparametric Multipoint Linkage Analysis with Imprinting and Two-Locus–Trait Models: Application to Mite Sensitization | Konstantin Strauch, Rolf Fimmers, Thorsten Kurz, Klaus A. Deichmann, Thomas F. Wienker, Max P. Baur |
| 1958-1962 | Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome | Shinji Saitoh, Takahito Wada |
| 1963-1968 | Founder Mutations in the BRCA1 Gene in Polish Families with Breast-Ovarian Cancer | B. Górski, T. Byrski, T. Huzarski, A. Jakubowska, J. Menkiszak, J. Gronwald, A. Płużańska, M. Bębenek, Ł. Fischer-Maliszewska, E. Grzybowska, S.A. Narod, J. Lubiński |
| 1969-1974 | Unequal Meiotic Crossover: A Frequent Cause of NF1 | Catalina López Correa, Hilde Brems, Conxi Lázaro, Peter Marynen, Eric Legius |
| 1975-1978 | Missense Mutation in the USH2A | Carlo Rivolta, Elizabeth A. Sweklo, Eliot L. Berson, Thaddeus P. Dryja |
| 1979-1983 | A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3 | Regina C. Betz, Young-Ae Lee, Anette Bygum, Flemming Brandrup, Ana I. Bernal, Jaime Toribio, J. Ignacio Alvarez, Guido M. Kukuk, Hans Henning W. Ibsen, Hanne B. Rasmussen, Thomas F. Wienker, André Reis, Peter Propping, Roland Kruse, Sven Cichon, Markus M. Nöthen |
| 1984-1988 | A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred | Ambar A. Salam, Franziska M. Häfner, Thomas E. Linder, Thomas Spillmann, Albert A. Schinzel, Suzanne M. Leal |
| 1989-1994 | Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity | Blanka Stibůrková, Jacek Majewski, Ivan Šebesta, Wenyong Zhang, Jurg Ott, Stanislav Kmoch |
| 1995-2000 | A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis | M.A. Escamilla, M.C. DeMille, E. Benavides, E. Roche, L. Almasy, S. Pittman, J. Hauser, D.F. Lew, N.B. Freimer, M.R. Whittle |
| 2001-2004 | The Impact of Transmission-Ratio Distortion on Allele Sharing in Affected Sibling Pairs | Celia M.T. Greenwood, Kenneth Morgan |
| 2005-2008 | Exploiting Excess Sharing: A More Powerful Test of Linkage for Affected Sib Pairs than the Transmission/Disequilibrium Test | Jacqueline Wicks |
| 2009-2012 | Unbiased Application of the Transmission/Disequilibrium Test to Multilocus Haplotypes | Frank Dudbridge, Bobby P.C. Koeleman, John A. Todd, David G. Clayton |
| 2013-2014 | High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia | M. Gomez Lira, M.G. Benetazzo, M.G. Marzari, C. Bombieri, F. Belpinati, C. Castellani, G.C. Cavallini, G. Mastella, P.F. Pignatti |
| 2014-2015 | On the Age of the Most Prevalent Gaucher Disease–Causing Mutation, N370S | Anna Díaz, Magda Montfort, Bru Cormand, Baijin Zeng, Gregory M. Pastores, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg |
| 2016 | Human Genetics: A Problem-Based Approach, 2d ed. | Kathryn Beauregard |
| 2017-2019 | Announcements | |
| 2020 | Erratum | |
| 2020 | Erratum | |
| 2020 | Erratum | |
| 2020 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-3 | Breaking Away from Home | Lynn D. Hudson |
| 4-7 | Elastic-Fiber Pathologies: Primary Defects in Assembly—and Secondary Disorders in Transport and Delivery | Zsolt Urbán, Charles D. Boyd |
| 8-10 | Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L | James R. Lupski |
| 11-13 | Premature Ovarian Failure among Fragile X Premutation Carriers: Parent-of-Origin Effect? | Stephanie L. Sherman |
| 14-22 | Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome | M.E. Hodes, Karen Woodward, Nancy B. Spinner, Beverly S. Emanuel, Agnes Enrico-Simon, John Kamholz, Dwight Stambolian, Elaine H. Zackai, Victoria M. Pratt, I.T. Thomas, Kerry Crandall, Stephen R. Dlouhy, Sue Malcolm |
| 23-36 | Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase | Aleksander Hinek, Sunqu Zhang, Adam C. Smith, John W. Callahan |
| 37-46 | A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene | Irina V. Mersiyanova, Alexander V. Perepelov, Alexander V. Polyakov, Vladimir F. Sitnikov, Elena L. Dadali, Roman B. Oparin, Alexander N. Petrin, Oleg V. Evgrafov |
| 47-58 | N-myc Downstream-Regulated Gene 1 | Luba Kalaydjieva, David Gresham, Rebecca Gooding, Lisa Heather, Frank Baas, Rosalein de Jonge, Karin Blechschmidt, Dora Angelicheva, David Chandler, Penelope Worsley, Andre Rosenthal, Rosalind H.M. King, P.K. Thomas |
| 59-66 | Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 | Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska, Donald Basel, Peter Beighton, Petros Tsipouras |
| 67-81 | Two Genetic Loci Regulate T Cell–Dependent Islet Inflammation and Drive Autoimmune Diabetes Pathogenesis | Casey J. Fox, Andrew D. Paterson, Steven M. Mortin-Toth, Jayne S. Danska |
| 82-91 | Evidence for a Prostate Cancer–Susceptibility Locus on Chromosome 20 | Rebecca Berry, Jennifer J. Schroeder, Amy J. French, Shannon K. McDonnell, Brett J. Peterson, Julie M. Cunningham, Stephen N. Thibodeau, Daniel J. Schaid |
| 92-99 | Genomewide Scan for Prostate Cancer–Aggressiveness Loci | John S. Witte, Katrina A.B. Goddard, David V. Conti, Robert C. Elston, Jennifer Lin, Brian K. Suarez, Karl W. Broman, James K. Burmester, James L. Weber, William J. Catalona |
| 100-109 | A Genomic Scan of Families with Prostate Cancer Identifies Multiple Regions of Interest | Mark Gibbs, Janet L. Stanford, Gail P. Jarvik, Marta Janer, Michael Badzioch, Mette A. Peters, Ellen L. Goode, Suzanne Kolb, Lisa Chakrabarti, Morgan Shook, Ryan Basom, Elaine A. Ostrander, Leroy Hood |
| 110-119 | Segregation Analysis of Esophageal Cancer in a Moderately High–Incidence Area of Northern China | Weihua Zhang, Joan E. Bailey-Wilson, Weidong Li, Xiuqin Wang, Chunlin Zhang, Xuezheng Mao, Zhihua Liu, Chuannong Zhou, Min Wu |
| 120-132 | Comparison of Tests for Association and Linkage in Incomplete Families | A.C.L. Cervino, A.V.S. Hill |
| 133-145 | Data Mining Applied to Linkage Disequilibrium Mapping | Hannu T.T. Toivonen, Päivi Onkamo, Kari Vasko, Vesa Ollikainen, Petteri Sevon, Heikki Mannila, Mathias Herr, Juha Kere |
| 146-154 | A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test | Eden R. Martin, Stephanie A. Monks, Liling L. Warren, Norman L. Kaplan |
| 155-169 | Bayesian Fine-Scale Mapping of Disease Loci, by Hidden Markov Models | A.P. Morris, J.C. Whittaker, D.J. Balding |
| 170-181 | Association Mapping in Structured Populations | Jonathan K. Pritchard, Matthew Stephens, Noah A. Rosenberg, Peter Donnelly |
| 182-196 | A Short Tandem Repeat–Based Phylogeny for the Human Y Chromosome | Peter Forster, Arne Röhl, Petra Lünnemann, Catrin Brinkmann, Tatiana Zerjal, Chris Tyler-Smith, Bernd Brinkmann |
| 197-202 | Novel HOXA13 | Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise A. Brueton, Jean-Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C.M. Hennekam, Peter J. Scambler |
| 203-206 | High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase | Kirstine Ravn, Maja Chloupkova, Ernst Christensen, Niels Jacob Brandt, Henrik Simonsen, Jan P. Kraus, Inge Merete Nielsen, Flemming Skovby, Marianne Schwartz |
| 207-212 | The Exon 13 Duplication in the BRCA1 | S. Mazoyer and The BRCA1 Exon 13 Duplication Screening Group |
| 213-221 | Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1 | Y.J. Crow, A.P. Jackson, E. Roberts, E. van Beusekom, P. Barth, P. Corry, C.D. Ferrie, B.C.J. Hamel, R. Jayatunga, G. Karbani, R. Kálmánchey, A. Kelemen, M. King, R. Kumar, J. Livingstone, R. Massey, R. McWilliam, A. Meager, C. Rittey, J.B.P. Stephenson, et al. | |
| 222-228 | Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype | Christine Bétard, Andrée Rasquin-Weber, Carl Brewer, Eric Drouin, Suzanne Clark, Andrei Verner, Corinne Darmond-Zwaig, Julie Fortin, Jocelyne Mercier, Pierre Chagnon, T. Mary Fujiwara, Kenneth Morgan, Andrea Richter, Thomas J. Hudson, Grant A. Mitchell |
| 229-235 | Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation | Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice |
| 236-243 | Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG | Valérie Delague, Corinne Bareil, Sylvie Tuffery, Patrice Bouvagnet, Eliane Chouery, Salam Koussa, Thierry Maisonobe, Jacques Loiselet, André Mégarbané, Mireille Claustres |
| 244-248 | Testing Linkage Disequilibrium in Sibships | Kimberly D. Siegmund, Bryan Langholz, Peter Kraft, Duncan C. Thomas |
| 249-252 | Testing the Robustness of the New Haseman-Elston Quantitative-Trait Loci–Mapping Procedure | David B. Allison, José R. Fernández, Moonseong Heo, T. Mark Beasley |
| 253-254 | No Evidence for Parent of Origin Influencing Premature Ovarian Failure in Fragile X Premutation Carriers | Anna Murray, Sarah Ennis, Newton Morton |
| 254-255 | Premature Ovarian Failure Is Associated with Maternally and Paternally Inherited Premutation in Brazilian Families with Fragile X | Angela M. Vianna-Morgante, Silvia S. Costa |
| 256-258 | Reply to the Letters from Murray et al. and Vianna-Morgante and Costa | Rubin D.L. Hundscheid, Chris M.G. Thomas, Didi D.M. Braat, Ben A. Oostra, Arie P.T. Smits |
| 258-259 | Inflated False-Positive Rates in Hardy-Weinberg and Linkage-Equilibrium Tests Are Due to Sampling on the Basis of Rare Familial Phenotypes in Finite Populations | Joseph D. Terwilliger |
| 259-261 | QTL Fine Mapping, in Extreme Samples of Finite Populations, for Complex Traits with Familial Correlation Due to Polygenes | Hong-Wen Deng, Wei-Min Chen |
| 261-262 | Reply to Deng and Chen | Joseph D. Terwilliger |
| 262-263 | Interpretation of Linkage Data for a Huntington-Like Disorder Mapping to 4p15.3 | Marci M. Lesperance, Margit Burmeister |
| 263 | Reply to Lesperance and Burmeister | Marios Kambouris, Brian F. Meyer |
| 264 | Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, | Margaret R. Wallace |
| 264-266 | Genes, Peoples, and Languages. | Guido Barbujani |
| 267-269 | Announcements | |
| 270 | Erratum | |
| 270 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 271 | News from the Editor | Stephen T. Warren |
| 272-273 | Statement on Gene Therapy, April 2000 | Board of Directors of the American Society of Human Genetics |
| 274-277 | Genetic Predisposition to Clinical Tuberculosis: Bridging the Gap between Simple and Complex Inheritance | Laurent Abel, Jean-Laurent Casanova |
| 278-281 | Chromosome 7q: Where Autism Meets Language Disorder? | Susan E. Folstein, Raymond E. Mankoski |
| 282-288 | All LODs Are Not Created Equal | Dale R. Nyholt |
| 289-294 | Statistical Approaches to Gene Mapping | Jurg Ott, Josephine Hoh |
| 295-301 | Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase | Alexandre Irrthum, Marika J. Karkkainen, Koen Devriendt, Kari Alitalo, Miikka Vikkula |
| 302-310 | A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension | Sandra Disse-Nicodème, Jean-Michel Achard, Isabelle Desitter, Anne-Marie Houot, Albert Fournier, Pierre Corvol, Xavier Jeunemaitre |
| 311-319 | A Single Genetic Origin for the G101W CDKN2A Mutation in 20 Melanoma-Prone Families | Paola Ciotti, Jeffery P. Struewing, Michela Mantelli, Agnès Chompret, Marie-Françoise Avril, Pier Luigi Santi, Margaret A. Tucker, Giovanna Bianchi-Scarrà, Brigitte Bressac-de Paillerets, Alisa M. Goldstein |
| 320-332 | An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture | Samantha J.L. Knight, Christa M. Lese, Kathrin S. Precht, Julie Kuc, Yi Ning, Sarah Lucas, Regina Regan, Mary Brenan, Alison Nicod, N. Martin Lawrie, Donald L.N. Cardy, Huy Nguyen, Thomas J. Hudson, Harold C. Riethman, David H. Ledbetter, Jonathan Flint |
| 333-344 | Meiotic Recombination and Flanking Marker Exchange at the Highly Unstable Human Minisatellite CEB1 (D2S90 | Jérôme Buard, Angela C. Shone, Alec J. Jeffreys |
| 345-356 | Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications | Jonathan D. Wren, Eva Forgacs, John W. Fondon III, Alexander Pertsemlidis, Sandra Y. Cheng, Teresa Gallardo, R.S. Williams, Ralph V. Shohet, John D. Minna, Harold R. Garner |
| 357-368 | The SPCH1 | Cecilia S.L. Lai, Simon E. Fisher, Jane A. Hurst, Elaine R. Levy, Shirley Hodgson, Margaret Fox, Stephen Jeremiah, Susan Povey, D. Curtis Jamison, Eric D. Green, Faraneh Vargha-Khadem, Anthony P. Monaco |
| 369-382 | The Inheritance of Neuropsychological Dysfunction in Twins Discordant for Schizophrenia | Tyrone D. Cannon, Matti O. Huttunen, Jouko Lonnqvist, Annamari Tuulio-Henriksson, Tiia Pirkola, David Glahn, Jennifer Finkelstein, Marja Hietanen, Jaakko Kaprio, Markku Koskenvuo |
| 383-394 | SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE | Eden R. Martin, Eric H. Lai, John R. Gilbert, Allison R. Rogala, A.J. Afshari, John Riley, K.L. Finch, J.F. Stevens, K.J. Livak, Brandon D. Slotterbeck, Susan H. Slifer, Liling L. Warren, P. Michael Conneally, Donald E. Schmechel, Ian Purvis, Margaret A. Pericak-Vance, Allen D. Roses, Jeffery M. Vance |
| 395-404 | Trisomic Pregnancy and Earlier Age at Menopause | Jennie Kline, Ann Kinney, Bruce Levin, Dorothy Warburton |
| 405-416 | Linkage of Tuberculosis to Chromosome 2q35 Loci, Including NRAMP1, | Celia M.T. Greenwood, T. Mary Fujiwara, Lucy J. Boothroyd, Mark A. Miller, Danielle Frappier, E. Anne Fanning, Erwin Schurr, Kenneth Morgan |
| 417-431 | Localization of Multiple Melanoma Tumor–Suppressor Genes on Chromosome 11 by Use of Homozygosity Mapping-of-Deletions Analysis | Eleonora K. Goldberg, J. Michael Glendening, Zarir Karanjawala, Anjali Sridhar, Graeme J. Walker, Nicholas K. Hayward, Andrew J. Rice, Devinda Kurera, Yasmine Tebha, Jane W. Fountain |
| 432-443 | A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region | Lois A. Tully, Thomas J. Parsons, Robert J. Steighner, Mitchell M. Holland, Michael A. Marino, Valerie L. Prenger |
| 444-461 | The Ancestry of Brazilian mtDNA Lineages | Juliana Alves-Silva, Magda da Silva Santos, Pedro E.M. Guimarães, Alessandro C.S. Ferreira, Hans-Jürgen Bandelt, Sérgio D.J. Pena, Vania Ferreira Prado |
| 462-475 | Multipoint Linkage Analysis of the Pseudoautosomal Regions, Using Affected Sibling Pairs | Josée Dupuis, Paul Van Eerdewegh |
| 476-482 | Imprinting of Human GRB10 | Hiroshi Yoshihashi, Katsuhiro Maeyama, Rika Kosaki, Tsutomu Ogata, Masato Tsukahara, Yu-ichi Goto, Jun-ichi Hata, Nobutake Matsuo, Robert J. Smith, Kenjiro Kosaki |
| 483-486 | Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint | Shinya Matsuura, Emi Ito, Hiroshi Tauchi, Kenshi Komatsu, Tatsuro Ikeuchi, Tadashi Kajii |
| 487-491 | Further Evidence for an Association of ABCR | Rando Allikmets and International ABCR Screening Consortium |
| 492-497 | Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36 | Kristin Bosse, Regina C. Betz, Young-Ae Lee, Thomas F. Wienker, André Reis, Heidi Kleen, Peter Propping, Sven Cichon, Markus M. Nöthen |
| 498-503 | Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 | Judith Goodship, Harinder Gill, Joan Carter, Andrew Jackson, Miranda Splitt, Michael Wright |
| 504-509 | A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28 | G. Vazza, M. Zortea, F. Boaretto, G.F. Micaglio, V. Sartori, M.L. Mostacciuolo |
| 510-514 | Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual | John B. Vincent, Jo-Anne Herbrick, Hugh M.D. Gurling, Patrick F. Bolton, Wendy Roberts, Stephen W. Scherer |
| 515-517 | The X Chromosome and the Rate of Deleterious Mutations in Humans | Francesco Giannelli, Peter M. Green |
| 518-522 | The Accuracy of Statistical Methods for Estimation of Haplotype Frequencies: An Example from the CD4 Locus | S.A. Tishkoff, A.J. Pakstis, G. Ruano, K.K. Kidd |
| 523-526 | The Problems of Using the Transmission/Disequilibrium Test to Infer Tight Linkage | J.C. Whittaker, M.C. Denham, A.P. Morris |
| 527 | Another Look Back | Trefor Jenkins |
| 527 | Reply to Jenkins | Peter H. Byers |
| 528-531 | Age and Origin of the PRNP | Roberto Colombo |
| 531-533 | The Disequilibrium Maximum-Likelihood–Binomial Test Does Not Replace the Transmission/Disequilibrium Test | Steve Horvath, Christine Windemuth, Michael Knapp |
| 534-535 | Reply to Horvath et al. | Jian Huang, Yanming Jiang |
| 535-537 | Pseudoautosomal Linkage of Hodgkin Disease | Alice S. Whittemore, Mei-Chiung Shih |
| 537 | Reply to Whittemore and Shih | Marshall Horwitz, Peter H. Wiernik |
| 538-540 | Announcements | |
| 541 | Erratum | |
| 541 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 543-548 | Male Sperm Motility Dictated by Mother's mtDNA | Frederick L. Moore, Renee A. Reijo-Pera |
| 549-562 | Iron-Dependent Self-Assembly of Recombinant Yeast Frataxin: Implications for Friedreich Ataxia | Jiri Adamec, Frank Rusnak, Whyte G. Owen, Stephen Naylor, Linda M. Benson, A. Marquis Gacy, Grazia Isaya |
| 563-573 | A Member of a Gene Family on Xp22.3, VCX-A, | Maki Fukami, Stefan Kirsch, Simone Schiller, Alexandra Richter, Vladimir Benes, Brunella Franco, Koji Muroya, Ercole Rao, Sabine Merker, Beate Niesler, Andrea Ballabio, Wilhelm Ansorge, Tsutomu Ogata, Gudrun A. Rappold |
| 574-581 | Somatic and Germline Mosaic Mutations in the doublecortin | Joseph G. Gleeson, Sharon Minnerath, Ruben I. Kuzniecky, William B. Dobyns, Ian D. Young, M. Elizabeth Ross, Christopher A. Walsh |
| 582-590 | Inactivation of Germline Mutant APC | Li-Kuo Su, Christopher J. Barnes, Weizhe Yao, Yi Qi, Patrick M. Lynch, Gideon Steinbach |
| 591-600 | OTOF | Shin'ichiro Yasunaga, M'hamed Grati, Sébastien Chardenoux, Tenesha N. Smith, Thomas B. Friedman, Anil K. Lalwani, Edward R. Wilcox, Christine Petit |
| 601-609 | Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation as the Cause of Liveborn Offspring with an Unbalanced Translocation | Susan J. Armstrong, Alastair S.H. Goldman, Robert M. Speed, Maj A. Hultén |
| 610-622 | Characterization of Terminal Deletions at 7q32 and 22q13.3 Healed by De Novo Telomere Addition | Helen Varley, Shaojie Di, Stephen W. Scherer, Nicola J. Royle |
| 623-630 | Polymorphisms in Genes Involved in Folate Metabolism as Maternal Risk Factors for Down Syndrome | Charlotte A. Hobbs, Stephanie L. Sherman, Ping Yi, Sarah E. Hopkins, Claudine P. Torfs, R. Jean Hine, Marta Pogribna, Rima Rozen, S. Jill James |
| 631-646 | Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span | Ellen M. Wijsman, Do Peterson, Anne-Louise Leutenegger, Jennifer B. Thomson, Katrina A.B. Goddard, Li Hsu, Virginia W. Berninger, Wendy H. Raskind |
| 647-651 | A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21 | Daniel H. Cohn, Tamy Shohat, Michal Yahav, Tsafra Ilan, Gidi Rechavi, Lily King, Mordechai Shohat |
| 652-663 | Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III | Douglas F. Levinson, Peter Holmans, Richard E. Straub, Michael J. Owen, Dieter B. Wildenauer, Pablo V. Gejman, Ann E. Pulver, Claudine Laurent, Kenneth S. Kendler, Dermot Walsh, N. Norton, Nigel M. Williams, Sibylle G. Schwab, Bernard Lerer, Bryan J. Mowry, Alan R. Sanders, Stylianos E. Antonarakis, Jean-Louis Blouin, Jean-Francois DeLeuze, Jacques Mallet |
| 664-671 | A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 | Tamara Rogers, David Chandler, Dora Angelicheva, P.K. Thomas, Bryan Youl, Ivailo Tournev, Velina Gergelcheva, Luba Kalaydjieva |
| 672-681 | The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp | Judith L. Ross, David Roeltgen, Harvey Kushner, Fanglin Wei, Andrew R. Zinn |
| 682-696 | Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility | Eduardo Ruiz-Pesini, Ana-Cristina Lapeña, Carmen Díez-Sánchez, Acisclo Pérez-Martos, Julio Montoya, Enrique Alvarez, Miguel Díaz, Antonio Urriés, Luis Montoro, Manuel J. López-Pérez, José A. Enríquez |
| 697-717 | Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland | Agnar Helgason, Sigrún Sigurðardóttir, Jayne Nicholson, Bryan Sykes, Emmeline W. Hill, Daniel G. Bradley, Vidar Bosnes, Jeffery R. Gulcher, Ryk Ward, Kári Stefánsson |
| 718-726 | mtDNA Variation among Greenland Eskimos: The Edge of the Beringian Expansion | Juliette Saillard, Peter Forster, Niels Lynnerup, Hans-Jürgen Bandelt, Søren Nørby |
| 727-736 | Identification and Analysis of Error Types in High-Throughput Genotyping | Kelly R. Ewen, Melanie Bahlo, Susan A. Treloar, Douglas F. Levinson, Bryan Mowry, John W. Barlow, Simon J. Foote |
| 737-744 | Familial Primary Pulmonary Hypertension (Gene PPH1 | Zemin Deng, Jane H. Morse, Susan L. Slager, Nieves Cuervo, Keith J. Moore, George Venetos, Sergey Kalachikov, Eftihia Cayanis, Stuart G. Fischer, Robyn J. Barst, Susan E. Hodge, James A. Knowles |
| 745-749 | Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 | Andrew J. Griffith, Aqeel A. Chowdhry, Kiyoto Kurima, Linda J. Hood, Bronya Keats, Charles I. Berlin, Robert J. Morell, Thomas B. Friedman |
| 750-754 | Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents | Roger V. Lebo, Lawrence R. Shapiro, Elif Yosunkaya Fenerci, J.M. Hoover, Jacinta L. Chuang, David T. Chuang, David F. Kronn |
| 755-758 | Familial Aggregation of Absolute Pitch | Siamak Baharloo, Susan K. Service, Neil Risch, Jane Gitschier, Nelson B. Freimer |
| 759-762 | Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A | Hans Joenje, Marieke Levitus, Quinten Waisfisz, Alan D'Andrea, Irene Garcia-Higuera, Tommy Pearson, Carola G.M. van Berkel, Martin A. Rooimans, Neil Morgan, Christopher G. Mathew, Fré Arwert |
| 763-768 | Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) | Hiroki Kurahashi, Tamim H. Shaikh, Elaine H. Zackai, Livija Celle, Deborah A. Driscoll, Marcia L. Budarf, Beverly S. Emanuel |
| 769 | Correction | Maximilian Muenke |
| 770-774 | Announcements | |
| 775 | Erratum | |
| 775 | Erratum | |
| 775 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 777-787 | Mechanisms of Genomic Imprinting | Karl Pfeifer |
| 788-792 | Genomic Sequence, Splicing, and Gene Annotation | Stephen M. Mount |
| 793-799 | Simple and Complex ABCR: | Rando Allikmets |
| 800-813 | A Comprehensive Survey of Sequence Variation in the ABCA4 | Andrea Rivera, Karen White, Heidi Stöhr, Klaus Steiner, Nadine Hemmrich, Timo Grimm, Bernhard Jurklies, Birgit Lorenz, Hendrik P.N. Scholl, Eckhart Apfelstedt-Sylla, Bernhard H.F. Weber |
| 814-821 | A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 | Jennifer J. Johnston, Richard I. Kelley, Thomas O. Crawford, D. Holmes Morton, Richa Agarwala, Thorsten Koch, Alejandro A. Schäffer, Clair A. Francomano, Leslie G. Biesecker |
| 822-831 | Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 | Georg C. Schwabe, Sigrid Tinschert, Christian Buschow, Peter Meinecke, Gerhard Wolff, Gabriele Gillessen-Kaesbach, Michael Oldridge, Andrew O.M. Wilkie, Reyhan Kömec, Stefan Mundlos |
| 832-840 | The Spectrum of SLC17A5 | Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen |
| 841-850 | Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 | Meredith A. Unger, Katherine L. Nathanson, Kathleen Calzone, Danielle Antin-Ozerkis, Helen A. Shih, Anne-Marie Martin, Gilbert M. Lenoir, Sylvie Mazoyer, Barbara L. Weber |
| 862-872 | Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men | Eddie D. Sloter, Xiu Lowe, Dan H. Moore II, Joginder Nath, Andrew J. Wyrobek |
| 873-880 | An Isochore Transition in the NF1 | Ingrid Eisenbarth, Gunther Vogel, Winfrid Krone, Walther Vogel, Günter Assum |
| 881-900 | Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism | Stephanie M. Fullerton, Andrew G. Clark, Kenneth M. Weiss, Deborah A. Nickerson, Scott L. Taylor, Jari H. Stengård, Veikko Salomaa, Erkki Vartiainen, Markus Perola, Eric Boerwinkle, Charles F. Sing |
| 901-925 | Short Tandem-Repeat Polymorphism/Alu | S.A. Tishkoff, A.J. Pakstis, M. Stoneking, J.R. Kidd, G. Destro-Bisol, A. Sanjantila, R.-b. Lu, A.S. Deinard, G. Sirugo, T. Jenkins, K.K. Kidd, A.G. Clark |
| 926-935 | Consistent Long-Range Linkage Disequilibrium Generated by Admixture in a Bantu-Semitic Hybrid Population | James F. Wilson, David B. Goldstein |
| 947-959 | Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype Data | Daniele Fallin, Nicholas J. Schork |
| 960-966 | Mutations in the ABCA4 | Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, Anita Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers |
| 967-975 | Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 | Ania C. Muntau, Peter U. Mayerhofer, Barbara C. Paton, Stefan Kammerer, Adelbert A. Roscher |
| 976-981 | PEX3 | Kamran Ghaedi, Masanori Honsho, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki |
| 982-985 | A Mutation in the Rett Syndrome Gene, MECP2, | Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D'Adamo, Koenraad Denvriendt, Jean-Pierre Fryns, Daniela Toniolo, Alessandra Renieri |
| 986-990 | Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations | Phillip A. Isotalo, George A. Wells, James G. Donnelly |
| 991-993 | A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31 | Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac |
| 994-999 | Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q | Laura N. Bull, Erin Roche, Eyun J. Song, Jan Pedersen, A.S. Knisely, C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes, Nelson B. Freimer |
| 1000-1003 | Remapping of the RP15 | Alan J. Mears, Suja Hiriyanna, Raf Vervoort, Beverly Yashar, Linn Gieser, Stacey Fahrner, Stephen P. Daiger, John R. Heckenlively, Paul A. Sieving, Alan F. Wright, Anand Swaroop |
| 1004-1007 | Mapping a Dominant Form of Multinodular Goiter to Chromosome Xp22 | F. Capon, A. Tacconelli, E. Giardina, S. Sciacchitano, R. Bruno, V. Tassi, V. Trischitta, S Filetti, B Dallapiccola, G. Novelli |
| 1008-1013 | Significant Linkage for Tourette Syndrome in a Large French Canadian Family | Chantal Mérette, Andrée Brassard, Anne Potvin, Hélène Bouvier, François Rousseau, Claudia Émond, Luc Bissonnette, Marc-André Roy, Michel Maziade, Jurg Ott, Chantal Caron |
| 1014-1019 | Association of HPC2/ELAC2 | Timothy R. Rebbeck, Amy H. Walker, Charnita Zeigler-Johnson, Sangeetha Weisburg, Anne-Marie Martin, Katherine L. Nathanson, Alan J. Wein, S. Bruce Malkowicz |
| 1020-1024 | Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13 | Young-Ae Lee, Franz Rüschendorf, Christine Windemuth, Marcus Schmitt-Egenolf, Antje Stadelmann, Gudrun Nürnberg, Markward Ständer, Thomas F. Wienker, André Reis, Heiko Traupe |
| 1025-1028 | A Unified Haseman-Elston Method for Testing Linkage with Quantitative Traits | Xin Xu, Scott Weiss, Xiping Xu, L.J. Wei |
| 1029-1032 | Hypervariable Sites in the mtDNA Control Region Are Mutational Hotspots | Mark Stoneking |
| 1033-1035 | Genetic Testing Should Not Be Advocated as a Diagnostic Tool in Familial Forms of Dementia | Esther A. Croes, Bart Dermaut, Tischa J.M. van der Cammen, Christine van Broeckhoven, Cornelia M. van Duijn |
| 1035-1036 | Reply to Croes et al. | Ulrich Finckh, Tomas Müller-Thomsen, Ulrike Mann, Christian Eggers, Josef Marksteiner, Wolfgang Meins, Giuliano Binetti, Antonella Alberici, Christoph Hock, Roger M. Nitsch, Andreas Gal |
| 1036-1039 | The Efficiency of Pooling in the Detection of Rare Mutations | Joseph L. Gastwirth |
| 1040-1044 | Announcements | |
| 1045 | Erratum | |
| 1045 | Errata | |
| 851-861 | Multipoint Genetic Mapping with Uniparental Disomy Data | Hongyu Zhao, Jinming Li, Wendy P. Robinson |
| 936-946 | Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers | Hongyu Zhao, Shuanglin Zhang, Kathleen R. Merikangas, Matyas Trixler, Dieter B. Wildenauer, Fengzhu Sun, Kenneth K. Kidd |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1047-1054 | The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease | Elisabeth H. Villavicencio, David O. Walterhouse, Philip M. Iannaccone |
| 1055-1061 | Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome | Peter de Knijff |
| 1062-1066 | Asymmetries in the Maternal and Paternal Genetic Histories of Colombian Populations | Mark Seielstad |
| 1067-1082 | Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, | Tala de los Santos, Johannes Schweizer, Christian A. Rees, Uta Francke |
| 1083-1094 | Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix | Allan J. Richards, David M. Baguley, John R.W. Yates, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead |
| 1095-1103 | Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism | Brage Storstein Andresen, Ernst Christensen, Thomas J. Corydon, Peter Bross, Bente Pilgaard, Ronald J.A. Wanders, Jos P.N. Ruiter, Henrik Simonsen, Vibeke Winter, Inga Knudsen, Lisbeth Dahl Schroeder, Niels Gregersen, Flemming Skovby |
| 1104-1109 | Mutations of the SCO1 | Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier-Daire, Arnold Munnich, Jean-Paul Bonnefont, PierreRustin, Agnès Rötig |
| 1110-1120 | Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV | Maria T. Bassi, Marta Manzoni, Eugenio Monti, Maria T. Pizzo, Andrea Ballabio, Giuseppe Borsani |
| 1121-1128 | Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9 | Anil K. Lalwani, Jayne A. Goldstein, Michael J. Kelley, William Luxford, Caley M. Castelein, Anand N. Mhatre |
| 1129-1135 | Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 | Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya |
| 1136-1143 | Identification of MEFV | Cécile Cazeneuve, Hasmik Ajrapetyan, Stéphanie Papin, Françoise Roudot-Thoraval, David Geneviève, Elizaveta Mndjoyan, Marina Papazian, Ashot Sarkisian, Ara Babloyan, Brigitte Boissier, Philippe Duquesnoy, Jean-Claude Kouyoumdjian, Emmanuelle Girodon-Boulandet, Gilles Grateau, Tamara Sarkisian, Serge Amselem |
| 1144-1153 | Localization of a Small Genomic Region Associated with Elevated ACE | Xiaofeng Zhu, Colin A. McKenzie, Terrence Forrester, Deborah A. Nickerson, Ulrich Broeckel, Heribert Schunkert, Angela Doering, Howard J. Jacob, Richard S. Cooper, Mark J. Rieder |
| 1154-1162 | A Second-Generation Genomewide Screen for Asthma-Susceptibility Alleles in a Founder Population | Carole Ober, Anya Tsalenko, Rodney Parry, Nancy J. Cox |
| 1163-1173 | Major Genes Regulating Total Serum Immunoglobulin E Levels in Families with Asthma | Jianfeng Xu, Dirkje S. Postma, Timothy D. Howard, Gerard H. Koppelman, Siqun L. Zheng, O. Colin Stine, Eugene R. Bleecker, Deborah A. Meyers |
| 1174-1185 | The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes | Soumitra Ghosh, Richard M. Watanabe, Timo T. Valle, Elizabeth R. Hauser, Victoria L. Magnuson, Carl D. Langefeld, Delphine S. Ally, Karen L. Mohlke, Kaisa Silander, Kimmo Kohtamäki, Peter Chines, James Balow Jr., Gunther Birznieks, Jennie Chang, William Eldridge, Michael R. Erdos, Zarir E. Karanjawala, Julie I. Knapp, Kristina Kudelko, Colin Martin, et al. | |
| 1186-1200 | The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci | Richard M. Watanabe, Soumitra Ghosh, Carl D. Langefeld, Timo T. Valle, Elizabeth R. Hauser, Victoria L. Magnuson, Karen L. Mohlke, Kaisa Silander, Delphine S. Ally, Peter Chines, Jillian Blaschak-Harvan, Julie A. Douglas, William L. Duren, Michael P. Epstein, Tasha E. Fingerlin, Hong Shi Kaleta, Ethan M. Lange, Chun Li, Richard C. McEachin, Heather M. Stringham, et al. | |
| 1201-1207 | Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 | Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun Nürnberg, Susanne Jatzke, Ernst Franzek, André Reis, Klaus-Peter Lesch, Thomas F. Wienker, Helmut Beckmann |
| 1208-1218 | Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects | Nicholas J. Schork, Swapan K. Nath, Daniele Fallin, Aravinda Chakravarti |
| 1219-1231 | Improved Inference of Relationship for Pairs of Individuals | Michael P. Epstein, William L. Duren, Michael Boehnke |
| 1232-1250 | Performance of Markov Chain–Monte Carlo Approaches for Mapping Genes in Oligogenic Models with an Unknown Number of Loci | Jae K. Lee, Duncan C. Thomas |
| 1251-1276 | Tracing European Founder Lineages in the Near Eastern mtDNA Pool | Martin Richards, Vincent Macaulay, Eileen Hickey, Emilce Vega, Bryan Sykes, Valentina Guida, Chiara Rengo, Daniele Sellitto, Fulvio Cruciani, Toomas Kivisild, Richard Villems, Mark Thomas, Serge Rychkov, Oksana Rychkov, Yuri Rychkov, Mukaddes Gölge, Dimitar Dimitrov, Emmeline Hill, Dan Bradley, Valentino Romano, et al. | |
| 1277-1286 | Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America | Natalia R. Mesa, María C. Mondragón, Iván D. Soto, María V. Parra, Constanza Duque, Daniel Ortíz-Barrientos, Luis F. García, Iván D. Velez, María L. Bravo, Juan G. Múnera, Gabriel Bedoya, Maria-Cátira Bortolini, Andrés Ruiz-Linares |
| 1287-1295 | Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia | Luis G. Carvajal-Carmona, Iván D. Soto, Nicolás Pineda, Daniel Ortíz-Barrientos, Constanza Duque, Jorge Ospina-Duque, Mark McCarthy, Patricia Montoya, Victor M. Alvarez, Gabriel Bedoya, Andrés Ruiz-Linares |
| 1296-1301 | Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis | Francoise Macari, Marina Landau, Pascal Cousin, Barukh Mevorah, Sarah Brenner, Renato Panizzon, Daniel F. Schorderet, Daniel Hohl, Marcel Huber |
| 1302-1305 | A Novel Mutation of desert hedgehog | Fujio Umehara, Genshu Tate, Kayoko Itoh, Naoki Yamaguchi, Tsutomu Douchi, Toshiyuki Mitsuya, Mitsuhiro Osame |
| 1306-1308 | Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene | Johan P. de Winter, France Léveillé, Carola G.M. van Berkel, Martin A. Rooimans, Laura van der Weel, Jurgen Steltenpool, Ilja Demuth, Neil V. Morgan, Noa Alon, Lucine Bosnoyan-Collins, Jeff Lightfoot, Peter A. Leegwater, Quinten Waisfisz, Kenshi Komatsu, Fré Arwert, Jan C. Pronk, Christopher G. Mathew, Martin Digweed, Manuel Buchwald, Hans Joenje |
| 1309-1313 | Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35 | Xiaodong Jiao, Francis L. Munier, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, June Lee, Daniel F. Schorderet, Muh-Shy Chen, Muriel Kaiser-Kupfer, J. Fielding Hejtmancik |
| 1314-1319 | A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families | Christine Klein, Karla Schilling, Rachel J. Saunders-Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah deLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jennifer Friedman, Steven Frucht, Juliette Harris, Gosta Holmgren, Bernhard Kis, Roger Kurlan, Martin Kyllerman, Anthony E. Lang, Joanne Leung, et al. | |
| 1320-1326 | Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 | Andrea H. Németh, Elena Bochukova, Eimear Dunne, Susan M. Huson, John Elston, Mohammed A. Hannan, Matthew Jackson, Cyril J. Chapman, A. Malcolm R. Taylor |
| 1327-1332 | Haploinsufficiency of ALX4 | Yuan-Qing Wu, Jose L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer |
| 1333-1339 | High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO | Andrea Zatková, Daniel Beltrán Valero de Bernabé, Helena Poláková, Marek Zvarík, Eva Feráková, Vladimir Bošák, Vladimír Ferák, L'udovít Kádasi, Santiago Rodríguez de Córdoba |
| 1340-1347 | General Equations for P | Ralph McGinnis |
| 1348-1351 | Pitfalls in Homozygosity Mapping | Maria G. Miano, Samuel G. Jacobson, Andrew Carothers, Isabel Hanson, Peter Teague, Jill Lovell, Artur V. Cideciyan, Neena Haider, Edwin M. Stone, Val C. Sheffield, Alan F. Wright |
| 1352-1355 | On a Randomization Procedure | Augustine Kong, Dan L. Nicolae |
| 1355-1356 | Reply to Kong and Nicolae | Hongyu Zhao, Kathleen R. Merikangas, Kenneth K. Kidd |
| 1356-1358 | The Promise and Pitfalls of Telomere Region–Specific Probes | Blake C. Ballif, Catherine D. Kashork, Lisa G. Shaffer |
| 1362-1364 | Announcements | |
| 1365 | Erratum | |
| 1365 | Erratum | |
| 1365 | Erratum | |
| 1365 | Erratum | |
| i-v | Editorial Reviewers for 2000 | |
| vii-viii | This Month in the Journal | Kathryn Beauregard |
| 1367-1375 | Genetics of Prostate Cancer: Too Many Loci, Too Few Genes | Elaine A. Ostrander, Janet L. Stanford |
| 1376-1381 | The Peopling of Europe from the Maternal and Paternal Perspectives | Jeffrey T. Lell, Douglas C. Wallace |
| 1382-1388 | Mutations in FOXC2 | Jianming Fang, Susan L. Dagenais, Robert P. Erickson, Martin F. Arlt, Michael W. Glynn, Jerome L. Gorski, Laurie H. Seaver, Thomas W. Glover |
| 1389-1399 | Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis | Leo W.J. Klomp, Tom J. de Koning, Helga E.M. Malingré, Ellen A.C.M. van Beurden, Miny Brink, Frans L. Opdam, Marinus Duran, Jaak Jaeken, Merce Pineda, Lionel van Maldergem, Bwee Tien Poll-The, Inge E.T. van den Berg, Ruud Berger |
| 1400-1410 | Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b | J. Andrew Keightley, Roberto Anitori, Miriam D. Burton, Franklin Quan, Neil R.M. Buist, Nancy G. Kennaway |
| 1411-1421 | Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype | Gary A. Bellus, Elaine B. Spector, Phyllis W. Speiser, Christine A. Weaver, Anthony T. Garber, Christine R. Bryke, Jamie Israel, Sally S. Rosengren, Melanie K. Webster, Daniel J. Donoghue, Clair A. Francomano |
| 1422-1427 | Active Intestinal Chloride Secretion in Human Carriers of Cystic Fibrosis Mutations: An Evaluation of the Hypothesis That Heterozygotes Have Subnormal Active Intestinal Chloride Secretion | Christoph Högenauer, Carol A. Santa Ana, Jack L. Porter, Mark Millard, Andrew Gelfand, Randall L. Rosenblatt, Claude B. Prestidge, John S. Fordtran |
| 1428-1436 | Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 | Inge M. Buyse, Ping Fang, Katherine T. Hoon, Ruthie E. Amir, Huda Y. Zoghbi, Benjamin B. Roa |
| 1437-1451 | Haplotypes at ATM | Penelope E. Bonnen, Michael D. Story, Cheryl L. Ashorn, Thomas A. Buchholz, Michael M. Weil, David L. Nelson |
| 1452-1459 | Genetic Susceptibility to Thrombosis and Its Relationship to Physiological Risk Factors: The GAIT Study | Juan Carlos Souto, Laura Almasy, Montserrat Borrell, Francisco Blanco-Vaca, José Mateo, José Manuel Soria, Inma Coll, Rosa Felices, William Stone, Jordi Fontcuberta, John Blangero |
| 1460-1469 | Genome Scan of Human Systemic Lupus Erythematosus by Regression Modeling: Evidence of Linkage and Epistasis at 4p16-15.2 | C. Gray-McGuire, K.L. Moser, P.M. Gaffney, J. Kelly, H. Yu, J.M. Olson, C.M. Jedrey, K.B. Jacobs, R.P. Kimberly, B.R. Neas, S.S. Rich, T.W. Behrens, J.B. Harley |
| 1470-1480 | Genomewide Search for Type 2 Diabetes–Susceptibility Genes in French Whites: Evidence for a Novel Susceptibility Locus for Early-Onset Diabetes on Chromosome 3q27-qter and Independent Replication of a Type 2–Diabetes Locus on Chromosome 1q21–q24 | Nathalie Vionnet, El Habib Hani, Sophie Dupont, Sophie Gallina, Stephan Francke, Sébastien Dotte, Frédérique De Matos, Emmanuelle Durand, Frédéric Leprêtre, Cécile Lecoeur, Philippe Gallina, Lirije Zekiri, Christian Dina, Philippe Froguel |
| 1481-1493 | Two Loci on Chromosomes 2 and X for Premature Coronary Heart Disease Identified in Early- and Late-Settlement Populations of Finland | Päivi Pajukanta, Michele Cargill, Laura Viitanen, Ilpo Nuotio, Anu Kareinen, Markus Perola, Joseph D. Terwilliger, Elli Kempas, Mark Daly, Heidi Lilja, John D. Rioux, Thomas Brettin, Jorma S.A. Viikari, Tapani Rönnemaa, Markku Laakso, Eric S. Lander, Leena Peltonen |
| 1494-1504 | Evaluation of the Needs of Male Carriers of Mutations in BRCA1 | Alexander Liede, Kelly Metcalfe, Danielle Hanna, Elizabeth Hoodfar, Carrie Snyder, Carolyn Durham, Henry T. Lynch, Steven A. Narod |
| 1505-1514 | Ascertainment Adjustment: Where Does It Take Us? | Paul R. Burton, Lyle J. Palmer, Kevin Jacobs, Kevin J. Keen, Jane M. Olson, Robert C. Elston |
| 1515-1525 | Family-Based Tests of Association in the Presence of Linkage | Stephen L. Lake, Deborah Blacker, Nan M. Laird |
| 1526-1543 | Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language | Zoë H. Rosser, Tatiana Zerjal, Matthew E. Hurles, Maarja Adojaan, Dragan Alavantic, António Amorim, William Amos, Manuel Armenteros, Eduardo Arroyo, Guido Barbujani, Gunhild Beckman, Lars Beckman, Jaume Bertranpetit, Elena Bosch, Daniel G. Bradley, Gaute Brede, Gillian Cooper, Helena B.S.M. Côrte-Real, Peter de Knijff, Ronny Decorte, et al. | |
| 1544-1554 | The Extent of Linkage Disequilibrium in Four Populations with Distinct Demographic Histories | Alison M. Dunning, Francine Durocher, Catherine S. Healey, M. Dawn Teare, Simon E. McBride, Francesca Carlomagno, Chun-Fang Xu, Elisabeth Dawson, Susan Rhodes, Saeko Ueda, Eric Lai, Robert N. Luben, Elizabeth J. Van Rensburg, Arto Mannermaa, Vesa Kataja, Gadi Rennart, Ian Dunham, Ian Purvis, Douglas Easton, Bruce A.J. Ponder |
| 1555-1562 | A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma | Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, Seth J. Orlow, Celia Moss, Mahin Golabi, Stuart K. Shapira, Peter A. Farndon, Diane W. Wara, Stephanie A. Emmal, Betsy M. Ferguson |
| 1563-1568 | Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency | Anna Biason-Lauber, Eugen J. Schoenle |
| 1569-1574 | Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I | Lisa M. Astuto, Michael D. Weston, Carol A. Carney, Denise M. Hoover, Cor W.R.J. Cremers, Mariette Wagenaar, Claes Moller, Richard J.H. Smith, Sandra Pieke-Dahl, Jacquie Greenberg, Raj Ramesar, Samuel G. Jacobson, Carmen Ayuso, John R. Heckenlively, Marta Tamayo, Michael B. Gorin, Willie Reardon, William J. Kimberling |
| 1575-1577 | Primary Autosomal Recessive Microcephaly: MCPH5 | C. Ruth Jamieson, Jean-Pierre Fryns, Jos Jacobs, Gert Matthijs, Marc J. Abramowicz |
| 1578-1580 | A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31 | Lisa Pattison, Yanick J. Crow, V. Jayne Deeble, Andrew P. Jackson, Hussain Jafri, Yasmin Rashid, Emma Roberts, C. Geoffrey Woods |
| 1581-1585 | A Genome Scan in Families from Australia and New Zealand Confirms the Presence of a Maternal Susceptibility Locus for Pre-Eclampsia, on Chromosome 2 | Eric K. Moses, Jennifer A. Lade, Guanglan Guo, Alan N. Wilton, Madonna Grehan, Katy Freed, Anthony Borg, Joseph D. Terwilliger, Robyn North, Desmond W. Cooper, Shaun P. Brennecke |
| 1586-1591 | Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities | S. Das, C.M. Lese, M. Song, J.L. Jensen, L.A. Wells, B.L. Barnoski, J.A. Roseberry, J.M. Camacho, D.H. Ledbetter, R.E. Schnur |
| 1592-1597 | A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 | L. Morlé, M. Bozon, J.-C. Zech, N. Alloisio, A. Raas-Rothschild, C. Philippe, J.-C. Lambert, J. Godet, H. Plauchu, P. Edery |
| 1598-1604 | Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1 | David M. Reynolds, Cathy T. Falk, Airong Li, Bernard F. King, Patrick S. Kamath, John Huston III, Clarence Shub, Diana M. Iglesias, Rodolfo S. Martin, Yves Pirson, Vicente E. Torres, Stefan Somlo |
| 1605-1610 | The IBD2 | Miles Parkes, M. Michael Barmada, Jack Satsangi, Daniel E. Weeks, Derek P. Jewell, Richard H. Duerr |
| 1611-1616 | Complex Segregation Analysis Provides Compelling Evidence for a Major Gene Underlying Obsessive-Compulsive Disorder and for Heterogeneity by Sex | G. Nestadt, T. Lan, J. Samuels, M. Riddle, O.J. Bienvenu III, K.Y. Liang, R. Hoehn-Saric, B. Cullen, M. Grados, T.H. Beaty, Y.Y. Shugart |
| 1617-1620 | A Novel Homoplasmic Mutation in mtDNA with a Single Evolutionary Origin as a Risk Factor for Cardiomyopathy | Wee Soo Shin, Masashi Tanaka, Jun-ichi Suzuki, Chieko Hemmi, Teruhiko Toyo-oka |
| 1621-1625 | Parental Attitudes toward Genetic Testing for Pediatric Deafness | Jeanne Weir Brunger, Gail S. Murray, Maryann O’Riordan, Anne L. Matthews, Richard J.H. Smith, Nathaniel H. Robin |
| 1626-1627 | Efficiency of Estimation of Haplotype Frequencies: Use of Marker Phenotypes of Unrelated Individuals versus Counting of Phase-Known Gametes | Paul M. McKeigue |
| 1628-1630 | Announcements | |
| 1631 | Erratum | |
| 1631-1633 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-13 | AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation | L. Edelmann, E. Spiteri, K. Koren, V. Pulijaal, M.G. Bialer, A. Shanske, R. Goldberg, B.E. Morrow |
| 14-25 | Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice | Yiannis A. Ioannou, Ken M. Zeidner, Ronald E. Gordon, Robert J. Desnick |
| 26-37 | Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23 | Julie M. Bork, Linda M. Peters, Saima Riazuddin, Steve L. Bernstein, Zubair M. Ahmed, Seth L. Ness, Robert Polomeno, Arabandi Ramesh, Melvin Schloss, C. R. Srikumari Srisailpathy, Sigrid Wayne, Susan Bellman, Dilip Desmukh, Zahoor Ahmed, Shaheen N. Khan, Vazken M. Der Kaloustian, X. Cindy Li, Anil Lalwani, Sheikh Riazuddin, Maria Bitner-Glindzicz, et al. | |
| 38-45 | Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 | P. Ianakiev, M.J. van Baren, M.J. Daly, S.P.A. Toledo, M.G. Cavalcanti, J. Correa Neto, E. Lemos Silveira, A. Freire-Maia, P. Heutink, M.W. Kilpatrick, P. Tsipouras |
| 46-63 | Mutation Analysis of the Entire PKD1 | Sandro Rossetti, Lana Strmecki, Vicki Gamble, Sarah Burton, Vicky Sneddon, Belén Peral, Sushmita Roy, Aysin Bakkaloglu, Radovan Komel, Christopher G. Winearls, Peter C. Harris |
| 64-80 | Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, | Sandra L. Dabora, Sergiusz Jozwiak, David Neal Franz, Penelope S. Roberts, Andres Nieto, Joon Chung, Yew-Sing Choy, Mary Pat Reeve, Elizabeth Thiele, John C. Egelhoff, Jolanta Kasprzyk-Obara, Dorota Domanska-Pakiela, David J. Kwiatkowski |
| 81-91 | Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III | H.-J. Lüdecke, J. Schaper, P. Meinecke, P. Momeni, S. Groß, D. von Holtum, H. Hirche, M.J. Abramowicz, B. Albrecht, C. Apacik, H.-J. Christen, U. Claussen, K. Devriendt, E. Fastnacht, A. Forderer, U. Friedrich, T.H.J. Goodship, M. Greiwe, H. Hamm, R.C.M. Hennekam, et al. | |
| 92-102 | BMPR2 | Rajiv D Machado, Michael W. Pauciulo, Jennifer R. Thomson, Kirk B. Lane, Neil V. Morgan, Lisa Wheeler, John A. Phillips III, John Newman, Denise Williams, Nazzareno Galiè, Alessandra Manes, Keith McNeil, Magdi Yacoub, Ghada Mikhail, Paula Rogers, Paul Corris, Marc Humbert, Dian Donnai, Gunnar Martensson, Lisbeth Tranebjaerg, et al. | |
| 103-117 | Worldwide Genetic Analysis of the CFTR Region | Eva Mateu, Francesc Calafell, Oscar Lao, Batsheva Bonné-Tamir, Judith R. Kidd, Andrew Pakstis, Kenneth K. Kidd, Jaume Bertranpetit |
| 118-127 | Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds | Rodney J. Scott, Mary McPhillips, Cliff J. Meldrum, Patrick E. Fitzgerald, Kirsten Adams, Allan D. Spigelman, Desiree du Sart, Kathy Tucker, Judy Kirk and Hunter Family Cancer Service |
| 128-135 | Genetics of Event-Related Brain Potentials in Response to a Semantic Priming Paradigm in Families with a History of Alcoholism | L. Almasy, B. Porjesz, J. Blangero, A. Goate, H.J. Edenberg, D.B. Chorlian, S. Kuperman, S.J. O’Connor, J. Rohrbaugh, L.O. Bauer, T. Foroud, J.P. Rice, T. Reich, H. Begleiter |
| 136-144 | A Genome Scan for Renal Function among Hypertensives: the HyperGEN Study | Andrew T. DeWan, Donna K. Arnett, Larry D. Atwood, Michael A. Province, Cora E. Lewis, Steven C. Hunt, John Eckfeldt |
| 145-153 | Analysis of European mtDNAs for Recombination | J.L. Elson, R.M. Andrews, P.F. Chinnery, R.N. Lightowlers, D.M. Turnbull, Neil Howell |
| 154-159 | Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations | C. Bourgain, E. Génin, P. Holopainen, K. Mustalahti, M. Mäki, J. Partanen, F. Clerget-Darpoux |
| 160-172 | Lactase Haplotype Diversity in the Old World | Edward J. Hollox, Mark Poulter, Marek Zvarik, Vladimir Ferak, Amanda Krause, Trefor Jenkins, Nilmani Saha, Andrew I. Kozlov, Dallas M. Swallow |
| 173-190 | Independent Histories of Human Y Chromosomes from Melanesia and Australia | Manfred Kayser, Silke Brauer, Gunter Weiss, Wulf Schiefenhövel, Peter A. Underhill, Mark Stoneking |
| 191-197 | Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions | Gonçalo R. Abecasis, Emiko Noguchi, Andrea Heinzmann, James A. Traherne, Sumit Bhattacharyya, Nicholas I. Leaves, Gavin G. Anderson, Youming Zhang, Nicholas J. Lench, Alisoun Carey, Lon R. Cardon, Miriam F. Moffatt, William O.C. Cookson |
| 198-207 | Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium | C.L. Pfaff, E.J. Parra, C. Bonilla, K. Hiester, P.M. McKeigue, M.I. Kamboh, R.G. Hutchinson, R.E. Ferrell, E. Boerwinkle, M.D. Shriver |
| 208-213 | A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency | Jochen Reiss, Sigrid Gross-Hardt, Ernst Christensen, Peter Schmidt, Ralf R. Mendel, Günter Schwarz |
| 214-218 | Precise Estimation of Allele Frequencies of Single-Nucleotide Polymorphisms by a Quantitative SSCP Analysis of Pooled DNA | Tomonari Sasaki, Tomoko Tahira, Akari Suzuki, Koichiro Higasa, Yoji Kukita, Shingo Baba, Kenshi Hayashi |
| 219-224 | Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease | Coralie Bingham, Michael P. Bulman, Sian Ellard, Lisa I.S. Allen, Graham W. Lipkin, William G. van't Hoff, Adrian S. Woolf, Gianfranco Rizzoni, Giuseppe Novelli, Anthony J. Nicholls, Andrew T. Hattersley |
| 225-231 | CHRNB2 | Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley |
| 232-237 | Gene Preference in Maple Syrup Urine Disease | Mary M. Nellis, Dean J. Danner |
| 238-240 | Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study | S. Rahman, J. Poulton, D. Marchington, A. Suomalainen |
| 241-246 | A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16 | N. Sylvius, F. Tesson, C. Gayet, P. Charron, A. Bénaïche, L. Mangin, M. Peuchmaurd, L. Duboscq-Bidot, J. Feingold, J.S. Beckmann, C. Bouchier, M. Komajda |
| 247-253 | A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region | Katariina Hannula, Marita Lipsanen-Nyman, Tero Kontiokari, Juha Kere |
| 254-260 | DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24 | Charles C. Greene, Pamella M. McMillan, Susan E. Barker, Purnima Kurnool, Margaret I. Lomax, Margit Burmeister, Marci M. Lesperance |
| 261-263 | The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population | Shira Silverstein, Israela Lerer, Karin Buiting, Dvorah Abeliovich |
| 264-268 | Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3 | U. Lichter-Konecki, K.W. Broman, E.B. Blau, D.S. Konecki |
| 269-274 | A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3 | Alejandro Leal, Bernal Morera, Gerardo Del Valle, Dieter Heuss, Corinna Kayser, Martin Berghoff, Ramón Villegas, Erick Hernández, María Méndez, Hans Christian Hennies, Bernhard Neundörfer, Ramiro Barrantes, André Reis, Bernd Rautenstrauss |
| 275-280 | Primate DAX1, SRY, | Megha Patel, Karin S. Dorman, Yao-Hua Zhang, Bing-Ling Huang, Arthur P. Arnold, Janet S. Sinsheimer, Eric Vilain, Edward R.B. McCabe |
| 281-286 | The Phylogeography of Brazilian Y-Chromosome Lineages | Denise R. Carvalho-Silva, Fabrício R. Santos, Jorge Rocha, Sérgio D.J. Pena |
| 287-290 | Inadequate Use of Molecular Hybridization to Analyze DNA in Neanderthal Fossils | E.M. Geigl |
| 290-291 | Reply to Geigl | Lutz Bachmann |
| 295-297 | Announcements | |
| 298 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 299-312 | Genetics of Schizophrenia and the New Millennium: Progress and Pitfalls | Miron Baron |
| 313-324 | Wild-Type Huntingtin Reduces the Cellular Toxicity of Mutant Huntingtin In Vivo | Blair R. Leavitt, Julian A. Guttman, J.Graeme Hodgson, Gil H. Kimel, Roshni Singaraja, A.Wayne Vogl, Michael R. Hayden |
| 325-333 | Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy | Cornelius F. Boerkoel, Hiroshi Takashima, Pawel Stankiewicz, Carlos A. Garcia, Steven M. Leber, Laila Rhee-Morris, James R. Lupski |
| 334-346 | The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism | M.Esther Gallardo, Lourdes R. Desviat, José M. Rodríguez, Jorge Esparza-Gordillo, Celia Pérez-Cerdá, Belén Pérez, Pilar Rodríguez-Pombo, Olga Criado, Raul Sanz, D.Holmes Morton, K.Michael Gibson, Thuy P. Le, Antonia Ribes, Santiago Rodríguez de Córdoba, Magdalena Ugarte, Miguel Á. Peñalva |
| 347-354 | High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency) | Stephanie Grünewald, Els Schollen, Emile Van Schaftingen, Jaak Jaeken, Gert Matthijs |
| 355-363 | Bilineal Disease and Trans-Heterozygotes in Autosomal Dominant Polycystic Kidney Disease | York Pei, Andrew D. Paterson, Kai Rong Wang, Ning He, Donna Hefferton, Terry Watnick, Greg G. Germino, Patrick Parfrey, Stefan Somlo, Peter St. George-Hyslop |
| 364-372 | A Spectrum of FOXC1 | Darryl Y. Nishimura, Charles C. Searby, Wallace L. Alward, David Walton, Jamie E. Craig, David A. Mackey, Kazuhide Kawase, Adam B. Kanis, Shivanand R. Patil, Edwin M. Stone, Val C. Sheffield |
| 373-385 | Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases | Daniel Falush, Elisabeth W. Almqvist, Ryan R. Brinkmann, Yoh Iwasa, Michael R. Hayden |
| 386-396 | A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13 | Agnieszka Seyda, Robert F. Newbold, Thomas J. Hudson, Andrei Verner, Neviana MacKay, Susan Winter, Annette Feigenbaum, Suzann Malaney, Diego Gonzalez-Halphen, Andrew P. Cuthbert, Brian H. Robinson |
| 397-409 | A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16 | Nana Lee, Mark J. Daly, Terrye Delmonte, Eric S. Lander, Fenghao Xu, Thomas J. Hudson, Grant A. Mitchell, Charles C. Morin, Brian H. Robinson, John D. Rioux |
| 410-419 | Variation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers | Deborah Thompson, Douglas Easton and Breast Cancer Linkage Consortium |
| 420-431 | After BRCA1 and BRCA2—What Next? Multifactorial Segregation Analyses of Three-Generation, Population-Based Australian Families Affected by Female Breast Cancer | Jisheng Cui, Antonis C. Antoniou, Gillian S. Dite, Melissa C. Southey, Deon J. Venter, Douglas F. Easton, Graham G. Giles, Margaret R.E. McCredie, John L. Hopper |
| 432-443 | A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania | Cristian Capelli, James F. Wilson, Martin Richards, Michael P.H. Stumpf, Fiona Gratrix, Stephen Oppenheimer, Peter Underhill, Vincenzo L. Pascali, Tsang-Ming Ko, David B. Goldstein |
| 444-456 | Genomic Divergences between Humans and Other Hominoids and the Effective Population Size of the Common Ancestor of Humans and Chimpanzees | Feng-Chi Chen, Wen-Hsiung Li |
| 457-465 | Problems in the Definition, Interpretation, and Evaluation of Genetic Heterogeneity | Alice S. Whittemore, Jerry Halpern |
| 466-477 | Accounting for Unmeasured Population Substructure in Case-Control Studies of Genetic Association Using a Novel Latent-Class Model | Glen A. Satten, W.Dana Flanders, Quanhe Yang |
| 478-484 | Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome | David Pérez-Caballero, Carolina González-Rubio, M.Esther Gallardo, Mariá Vera, Margarita López-Trascasa, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral |
| 485-490 | Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition | Anna Richards, Mark R. Buddles, Rosemary L. Donne, Bernard S. Kaplan, Edwin Kirk, Michael C. Venning, Christian L. Tielemans, Judith A. Goodship, Timothy H.J. Goodship |
| 491-494 | A Duplication in Chromosome 4q35 Is Associated with Hereditary Benign Intraepithelial Dyskeratosis | R.Rand Allingham, Ben Seo, Evadnie Rampersaud, MaryLou Bembe, Pratap Challa, Ningpu Liu, Tanisha Parrish, Linda Karolak, John Gilbert, Margaret A. Pericak-Vance, Gordon K. Klintworth, Jeffery M. Vance |
| 495-500 | A Second Gene for Otosclerosis, OTSC2 | Kris Van Den Bogaert, Paul J. Govaerts, Isabelle Schatteman, Matthew R. Brown, Goele Caethoven, F.Erwin Offeciers, Thomas Somers, Frank Declau, Paul Coucke, Paul Van de Heyning, Richard J.H. Smith, Guy Van Camp |
| 501-508 | Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity | Maria do Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Pedro Mendonça, José Barros, Paula Coutinho, Jorge Sequeiros, Michel Koenig |
| 509-514 | A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 | A. Vanita, Jai Rup Singh, Virinder K. Sarhadi, Daljit Singh, André Reis, Franz Rueschendorf, Johannes Becker-Follmann, Martin Jung, Karl Sperling |
| 515-522 | A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH | Cyrus P. Zabetian, George M. Anderson, Sarah G. Buxbaum, Robert C. Elston, Hiroshi Ichinose, Toshiharu Nagatsu, Kwang-Soo Kim, Chun-Hyung Kim, Robert T. Malison, Joel Gelernter, Joseph F. Cubells |
| 523-528 | Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study | C. Gaspar, I. Lopes-Cendes, S. Hayes, J. Goto, K. Arvidsson, A. Dias, I. Silveira, P. Maciel, P. Coutinho, M. Lima, Y.-X. Zhou, B.-W. Soong, M. Watanabe, P. Giunti, G. Stevanin, O. Riess, H. Sasaki, M. Hsieh, G.A. Nicholson, E. Brunt, et al. | |
| 529-532 | Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains | P.F. Chinnery, G.A. Taylor, N. Howell, D.T. Brown, T.J. Parsons, D.M. Turnbull |
| 533-536 | Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes | D.T. Brown, D.C. Samuels, E.M. Michael, D.M. Turnbull, P.F. Chinnery |
| 537-542 | Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia | Lluís Quintana-Murci, Csilla Krausz, Tatiana Zerjal, S.Hamid Sayar, Michael F. Hammer, S.Qasim Mehdi, Qasim Ayub, Raheel Qamar, Aisha Mohyuddin, Uppala Radhakrishna, Mark A. Jobling, Chris Tyler-Smith, Ken McElreavey |
| 543-544 | Conflicting Reports of Imprinting Status of Human GRB10 | Susanne Mergenthaler, Megan P. Hitchins, Nadya Blagitko-Dorfs, David Monk, Hartmut A. Wollmann, Michael B. Ranke, Hans-Hilger Ropers, Sophia Apostolidou, Philip Stanier, Michael A. Preece, Thomas Eggermann, Vera M. Kalscheuer, Gudrun E. Moore |
| 544-545 | Reply to Mergenthaler et al. | Hiroshi Yoshihashi, Katsuhiro Maeyama, Rika Kosaki, Tsutomu Ogata, Masato Tsukahara, Yu-ichi Goto, Junichi Hata, Nobutake Matsuo, Robert J. Smith, Kenjiro Kosaki |
| 546 | Founder Mutations of BRCA1 and BRCA2 in North American Families of Polish Origin That Are Affected with Breast Cancer | Patricia de los Rios, Elaine Jack, Graciela Kuperstein, Henry Lynch, Jan Lubinski, Steven A. Narod |
| 546-547 | Vacuoliting Megalencephalic Leukoencephalopathy | Elon Pras |
| 548-549 | Genetics and Analysis of Quantitative Traits | Suzanne M. Leal |
| 550-556 | Announcements | |
| 557 | Erratum | |
| 557 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 559-568 | Connexin Mutations in Skin Disease and Hearing Loss | David P. Kelsell, Wei-Li Di, Mark J. Houseman |
| 569-576 | Identification of the Gene for Oral-Facial-Digital Type I Syndrome | Maria I. Ferrante, Sally A. Feather, Alessandro Bulfone, Victoria Wright, Michela Ghiani, Angelo Selicorni, Linda Gammaro, Francesco Scolari, Adrian S. Woolf, Odent Sylvie, Le Marec Bernard, Sue Malcolm, Robin Winter, Andrea Ballabio, Giovanna Giorgio, Brunella Franco |
| 577-589 | Bone Dysplasia Sclerosteosis Results from Loss of the SOST | Mary E. Brunkow, Jessica C. Gardner, Jeff Van Ness, Bryan W. Paeper, Brian R. Kovacevich, Sean Proll, John E. Skonier, L. Zhao, P.J. Sabo, Ying-Hui Fu, Reid S. Alisch, Lucille Gillett, Trenton Colbert, Paolo Tacconi, David Galas, Herman Hamersma, Peter Beighton, John T. Mulligan |
| 590-597 | Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis | Kim Göransdotter Ericson, Bengt Fadeel, Sofie Nilsson-Ardnor, Cilla Söderhäll, AnnaCarin Samuelsson, Gritta Janka, Marion Schneider, Aytemiz Gürgey, Nevin Yalman, Tom Révész, R. Maarten Egeler, Kirsi Jahnukainen, Ingebjörg Storm-Mathiesen, Ásgeir Haraldsson, Janet Poole, Geneviève de Saint Basile, Magnus Nordenskjöld, Jan-Inge Henter |
| 598-605 | Tissue-Specific Expression of a Splicing Mutation in the IKBKAP | Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra P. Gill, Maire Leyne, James Mull, Math P. Cuajungco, Christopher B. Liebert, Brian Chadwick, Maria Idelson, Luba Reznik, Christiane M. Robbins, Izabela Makalowska, Michael J. Brownstein, Daniel Krappmann, Claus Scheidereit, Channa Maayan, Felicia B. Axelrod, James F. Gusella |
| 606-616 | Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 | Philip L. Beales, Nicholas Katsanis, Richard A. Lewis, Stephen J. Ansley, Nursel Elcioglu, Jamal Raza, Michael O. Woods, Jane S. Green, Patrick S. Parfrey, William S. Davidson, James R. Lupski |
| 617-626 | Origin of the Mutations in the parkin | Magali Periquet, Christoph B. Lücking, Jenny R. Vaughan, Vincenzo Bonifati, Alexandra Dürr, Giuseppe De Michele, Martin W. Horstink, Matt Farrer, Sergei N. Illarioshkin, Pierre Pollak, Michel Borg, Christine Brefel-Courbon, Patrice Denefle, Giuseppe Meco, Thomas Gasser, Monique M.B. Breteler, Nick W. Wood, Yves Agid, Alexis Brice the French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease |
| 627-641 | Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1 | Ramsey A. Saleem, Sharmila Banerjee-Basu, Fred B. Berry, Andreas D. Baxevanis, Michael A. Walter |
| 642-652 | Compound Heterozygosity for a Recurrent 16.5-kb Alu | Franziska Ringpfeil, Aoi Nakano, Jouni Uitto, Leena Pulkkinen |
| 653-660 | Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families | Emily R. Eden, Rossitza P. Naoumova, Jemima J. Burden, Mark I. McCarthy, Anne K. Soutar |
| 661-673 | Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chromosomes 11q23.3-24 and 20q12.1-11.23 | Hugh M.D. Gurling, Gursharan Kalsi, Jon Brynjolfson, Thordur Sigmundsson, Robin Sherrington, Baljinder S. Mankoo, Timothy Read, Patrice Murphy, Ekaterina Blaveri, Andrew McQuillin, Hannes Petursson, David Curtis |
| 674-685 | Association between a Single-Nucleotide Polymorphism in the Promoter of the Human Interleukin-3 Gene and Rheumatoid Arthritis in Japanese Patients, and Maximum-Likelihood Estimation of Combinatorial Effect That Two Genetic Loci Have on Susceptibility to the Disease | Ryo Yamada, Toshihiro Tanaka, Motoko Unoki, Tatsuo Nagai, Tetsuji Sawada, Yozo Ohnishi, Tatsuhiko Tsunoda, Masao Yukioka, Akira Maeda, Kenji Suzuki, Hiroomi Tateishi, Takahiro Ochi, Yusuke Nakamura, Kazuhiko Yamamoto |
| 686-699 | Complex HLA-DR and -DQ Interactions Confer Risk of Narcolepsy-Cataplexy in Three Ethnic Groups | Emmanuel Mignot, Ling Lin, William Rogers, Yutaka Honda, Xiaohong Qiu, Xiaoyan Lin, Michele Okun, Hirohiko Hohjoh, Tetsuro Miki, Susan H. Hsu, Mary S. Leffell, F. Carl Grumet, Marcelo Fernandez-Vina, Makoto Honda, Neil Risch |
| 700-710 | Prevalence and Penetrance of Germline BRCA1 | Harvey A. Risch, John R. McLaughlin, David E.C. Cole, Barry Rosen, Linda Bradley, Elaine Kwan, Elaine Jack, Danny J. Vesprini, Graciela Kuperstein, John L.A. Abrahamson, Isabel Fan, Betty Wong, Steven A. Narod |
| 711-722 | A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies | Christine M. Eng, Maryam Banikazemi, Ronald E. Gordon, Martin Goldman, Robert Phelps, Leona Kim, Alan Gass, Jonathan Winston, Steven Dikman, John T. Fallon, Scott Brodie, Charles B. Stacy, Davendra Mehta, Rosaleen Parsons, Karen Norton, Michael O’Callaghan, Robert J. Desnick |
| 723-737 | mtDNA and the Islands of the North Atlantic: Estimating the Proportions of Norse and Gaelic Ancestry | Agnar Helgason, Eileen Hickey, Sara Goodacre, Vidar Bosnes, Kári Stefánsson, Ryk Ward, Bryan Sykes |
| 738-752 | Patterns of Ancestral Human Diversity: An Analysis of Alu | W.S. Watkins, C.E. Ricker, M.J. Bamshad, M.L. Carroll, S.V. Nguyen, M.A. Batzer, H.C. Harpending, A.R. Rogers, L.B. Jorde |
| 753-758 | Familial Dysautonomia Is Caused by Mutations of the IKAP Gene | Sylvia L. Anderson, Rocco Coli, Ira W. Daly, Elizabeth A. Kichula, Matthew J. Rork, Sabrina A. Volpi, Josef Ekstein, Berish Y. Rubin |
| 759-764 | Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2 | Serena Guida, Flavia Trettel, Stefano Pagnutti, Elide Mantuano, Angelita Tottene, Liana Veneziano, Tommaso Fellin, Maria Spadaro, Kenneth A. Stauderman, Mark E. Williams, Stephen Volsen, Roel A. Ophoff, Rune R. Frants, Carla Jodice, Marina Frontali, Daniela Pietrobon |
| 765-771 | Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO | Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic, Richard Alan Lewis, Moise Levy, Alain Israël, David L. Nelson |
| 772-777 | A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 | Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston, Aubin Balmer, Daniel F. Schorderet, Andrei Verner, Thomas J. Hudson, Francis L. Munier |
| 778-781 | A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13 | L.M. Downey, T.J. Keen, E. Roberts, D.C. Mansfield, M. Bamashmus, C.F. Inglehearn |
| 782-787 | In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 | Prashiela Manga, Jennifer G.R. Kromberg, Angela Turner, Trefor Jenkins, Michele Ramsay |
| 788-794 | Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome | Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque, Marguerite Gastaldi, Bernard Echenne, Jacques Motte, Pierre Genton, Ricardo Cersósimo, Véronique Humbertclaude, Natalio Fejerman, Anthony P. Monaco, Mark G. Lathrop, Jacques Rochette, Pierre Szepetowski |
| 795-801 | Analysis of the Prostate Cancer–Susceptibility Locus HPC20 | Cathryn H. Bock, Julie M. Cunningham, Shannon K. McDonnell, Daniel J. Schaid, Brett J. Peterson, Robert J. Pavlic, Jennifer J. Schroeder, Jason Klein, Amy J. French, Angela Marks, Stephen N. Thibodeau, Ethan M. Lange, Kathleen A. Cooney |
| 802-806 | Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age | J.L. Elson, D.C. Samuels, D.M. Turnbull, P.F. Chinnery |
| 807-810 | Estimation of Sibling Recurrence-Risk Ratio under Single Ascertainment in Two-Child Families | Priya J. Wickramaratne, Susan E. Hodge |
| 810-812 | Reply to Wickramaratne and Hodge | Sun-Wei Guo |
| 813-817 | Announcements | |
| 818 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 819-825 | On Discovery, Genomes, The Society, and Society | Ronald G. Worton |
| 826-827 | Introductory Speech for F. Clarke Fraser | Dorothy Warburton |
| 828-830 | Resetting our Educational Sights: Unconstructing the Public's Dreams and Nightmares of the Genetic Revolution | F. Clarke Fraser |
| 831-838 | Mutations of MLC1 | Peter A.J. Leegwater, Bao Qiang Yuan, Jeffrey van der Steen, Joyce Mulders, Andrea A.M. Könst, P. K. Ilja Boor, Vlatka Mejaski-Bosnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap |
| 839-847 | Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency | Barbara A. Binzak, Ron A. Wevers, Sytske H. Moolenaar, Yu-May Lee, Wuh-Liang Hwu, Jo Poggi-Bach, Udo F.H. Engelke, Heidi M. Hoard, Joseph G. Vockley, Jerry Vockley |
| 848-858 | Disruption of a Novel Gene (IMMP2L | Erwin Petek, Christian Windpassinger, John B. Vincent, Joseph Cheung, Andrew P. Boright, Stephen W. Scherer, Peter M. Kroisel, Klaus Wagner |
| 859-865 | Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus | R.H. Wallace, I.E. Scheffer, S. Barnett, M. Richards, L. Dibbens, R.R. Desai, T. Lerman-Sagie, D. Lev, A. Mazarib, N. Brand, B. Ben-Zeev, I. Goikhman, R. Singh, G. Kremmidiotis, A. Gardner, G.R. Sutherland, A.L. George, J.C. Mulley, S.F. Berkovic |
| 866-873 | A Novel SCN1A | Andrew Escayg, Armin Heils, Bryan T. MacDonald, Karsten Haug, Thomas Sander, Miriam H. Meisler |
| 874-883 | Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements | Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto, Vladimiro Calvari, Giorgio Gimelli, Thomas Neumann, Hirofumi Ohashi, Lucille Voullaire, Daniela Larizza, Roberto Giorda, Jim L. Weber, David H. Ledbetter, Orsetta Zuffardi |
| 884-894 | Melanocortin-1 Receptor Gene Variants Determine the Risk of Nonmelanoma Skin Cancer Independently of Fair Skin and Red Hair | Maarten T. Bastiaens, Jeannet A. C. ter Huurne, Christine Kielich, Nelleke A. Gruis, Rudi G.J. Westendorp, Bert Jan Vermeer, Jan Nico Bouwes Bavinck and for the Leiden Skin Cancer Study Team |
| 895-900 | Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, | Enza Maria Valente, Anna Rita Bentivoglio, Peter H. Dixon, Alessandro Ferraris, Tamara Ialongo, Marina Frontali, Alberto Albanese, Nicholas W. Wood |
| 901-911 | Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer | Jianfeng Xu, Siqun L. Zheng, John D. Carpten, Nina N. Nupponen, Christiane M. Robbins, Juanita Mestre, Tracy Y. Moses, Dennis A. Faith, Brian D. Kelly, Sarah D. Isaacs, Kathleen E. Wiley, Charles M. Ewing, Piroska Bujnovszky, Bao-li Chang, Joan Bailey-Wilson, Eugene R. Bleecker, Patrick C. Walsh, Jeffrey M. Trent, Deborah A. Meyers, William B. Isaacs |
| 912-917 | HPC2 Variants and Screen-Detected Prostate Cancer | Danny Vesprini, Robert K. Nam, John Trachtenberg, Michael A.S. Jewett, Sean V. Tavtigian, Marjan Emami, Minnie Ho, Ants Toi, Steven A. Narod |
| 918-926 | Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci | S.H. Laval, A. Timms, S. Edwards, L. Bradbury, S. Brophy, A. Milicic, L. Rubin, K.A. Siminovitch, D.E. Weeks, A. Calin, B.P. Wordsworth, M.A. Brown |
| 927-936 | A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases | Damini Jawaheer, Michael F. Seldin, Christopher I. Amos, Wei V. Chen, Russell Shigeta, Joanita Monteiro, Marlene Kern, Lindsey A. Criswell, Salvatore Albani, J. Lee Nelson, Daniel O. Clegg, Richard Pope, Harry W. Schroeder, S. Louis Bridges, David S. Pisetsky, Ryk Ward, Daniel L. Kastner, Ronald L. Wilder, Theodore Pincus, Leigh F. Callahan, et al. | |
| 937-950 | Multipoint Linkage-Disequilibrium–Mapping Approach Based on the Case-Parent Trio Design | Kung-Yee Liang, Fang-Chi Hsu, Terri H. Beaty, Kathleen C. Barnes |
| 951-962 | Assessment of Parent-of-Origin Effects in Linkage Analysis of Quantitative Traits | Robert L. Hanson, Sayuko Kobes, Robert S. Lindsay, William C. Knowler |
| 963-977 | Efficient Multipoint Linkage Analysis through Reduction of Inheritance Space | Kyriacos Markianos, Mark J. Daly, Leonid Kruglyak |
| 978-989 | A New Statistical Method for Haplotype Reconstruction from Population Data | Matthew Stephens, Nicholas J. Smith, Peter Donnelly |
| 990-1018 | An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations | Manfred Kayser, Michael Krawczak, Laurent Excoffier, Patrick Dieltjes, Daniel Corach, Vincente Pascali, Christian Gehrig, Luigi F. Bernini, Jørgen Jespersen, Egbert Bakker, Lutz Roewer, Peter de Knijff |
| 1019-1029 | High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula | Elena Bosch, Francesc Calafell, David Comas, Peter J. Oefner, Peter A. Underhill, Jaume Bertranpetit |
| 1030-1035 | Axonemal Dynein Intermediate-Chain Gene (DNAI1 | Cécile Guichard, Marie-Cécile Harricane, Jean-Jacques Lafitte, Philippe Godard, Marc Zaegel, Vincent Tack, Guy Lalau, Patrice Bouvagnet |
| 1036-1042 | A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians | Yoshiyuki Okano, Minoru Asada, Akie Fujimoto, Akira Ohtake, Koichiro Murayama, Kwang-Jen Hsiao, Kyuchul Choeh, Yanling Yang, Qixiang Cao, Juergen K.V. Reichardt, Shizuhiro Niihira, Takuji Imamura, Tsunekazu Yamano |
| 1043-1047 | Limitations of Chromosome Classification by Multicolor Karyotyping | Charles Lee, David Gisselsson, Charlotte Jin, Ann Nordgren, David O. Ferguson, Elisabeth Blennow, Jonathan A. Fletcher, Cynthia C. Morton |
| 1048-1054 | Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 | Sharan Goobie, Maja Popovic, Jodi Morrison, Lynda Ellis, Hedy Ginzberg, Graeme R.B. Boocock, Nadia Ehtesham, Christine Bétard, Carl G. Brewer, Nicole M. Roslin, Thomas J. Hudson, Kenneth Morgan, T. Mary Fujiwara, Peter R. Durie, Johanna M. Rommens |
| 1055-1060 | Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3 | Kun Wang, Elizabeth W. Pugh, Shari Griffen, Kimberly F. Doheny, Wedad Z. Mostafa, Mustafa M. al-Aboosi, Hatem el-Shanti, Jane Gitschier |
| 1061-1064 | Linkage Analysis of a Complex Pedigree with Severe Bipolar Disorder, Using a Markov Chain Monte Carlo Method | Chad Garner, L. Alison McInnes, Susan K. Service, Mitzi Spesny, Eduardo Fournier, Pedro Leon, Nelson B. Freimer |
| 1065-1067 | Correcting for a Potential Bias in the Pedigree Disequilibrium Test | Eden R. Martin, Meredyth P. Bass, Norman L. Kaplan |
| 1068 | Principles of Molecular Oncology | Robert Jenkins |
| 1069-1074 | Announcements | |
| 1075 | Erratum | |
| 1075 | Erratum | |
| 1075-1076 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1077-1085 | Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia | Ingrid K. Svenson, Allison E. Ashley-Koch, P. Craig Gaskell, Travis J. Riney, W. J. Ken Cumming, Helen M. Kingston, Edward L. Hogan, Rose-Mary N. Boustany, Jeffery M. Vance, Martha A. Nance, Margaret A. Pericak-Vance, Douglas A. Marchuk |
| 1086-1092 | Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway | Nanda M. Verhoeven, Jojanneke H.J. Huck, Birthe Roos, Eduard A. Struys, Gajja S. Salomons, Adriaan C. Douwes, Marjo S. van der Knaap, Cornelis Jakobs |
| 1093-1101 | MECP2 | R. Trappe, F. Laccone, J. Cobilanschi, M. Meins, P. Huppke, F. Hanefeld, W. Engel |
| 1102-1109 | Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans | Brian K. Jordan, Mansoor Mohammed, Saunders T. Ching, Emmanuèle Délot, Xiao-Ning Chen, Phoebe Dewing, Amanda Swain, P. Nagesh Rao, B. Rafael Elejalde, Eric Vilain |
| 1110-1118 | Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates | Sonja A. Rasmussen, Quanhe Yang, J.M. Friedman |
| 1119-1129 | Identification of a New Candidate Locus for Uric Acid Nephrolithiasis | Maria Neve Ombra, Paola Forabosco, Stefania Casula, Andrea Angius, Gianbattista Maestrale, Enrico Petretto, Giuseppina Casu, Giacomo Colussi, Enzo Usai, Paola Melis, Mario Pirastu |
| 1130-1138 | Characterization of Mutations in the CPO | Jérôme Lamoril, Hervé Puy, Sharon D. Whatley, Caroline Martin, Jacqueline R. Woolf, Vasco Da Silva, Jean-Charles Deybach, George H. Elder |
| 1139-1148 | Linkage and Association Analysis of Angiotensin I–Converting Enzyme (ACE)–Gene Polymorphisms with ACE Concentration and Blood Pressure | Xiaofeng Zhu, Nourdine Bouzekri, Lorraine Southam, Richard S. Cooper, Adebowale Adeyemo, Colin A. McKenzie, Amy Luke, Guangjie Chen, Robert C. Elston, Ryk Ward |
| 1149-1164 | A Major Locus for Fasting Insulin Concentrations and Insulin Resistance on Chromosome 6q with Strong Pleiotropic Effects on Obesity-Related Phenotypes in Nondiabetic Mexican Americans | Ravindranath Duggirala, John Blangero, Laura Almasy, Rector Arya, Thomas D. Dyer, Kenneth L. Williams, Robin J. Leach, Peter O’Connell, Michael P. Stern |
| 1165-1171 | International Collaboration Provides Convincing Linkage Replication in Complex Disease through Analysis of a Large Pooled Data Set: Crohn Disease and Chromosome 16 | Juleen Cavanaugh and The IBD International Genetics Consortium |
| 1172-1188 | Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews | Ronen Durst, Roberto Colombo, Shoshi Shpitzen, Liat Ben Avi, Yechiel Friedlander, Roni Wexler, Frederick J. Raal, David A. Marais, Joep C. Defesche, Michail Y. Mandelshtam, Maritha J. Kotze, Eran Leitersdorf, Vardiella Meiner |
| 1189-1196 | Regression Models for Linkage Heterogeneity Applied to Familial Prostate Cancer | Daniel J. Schaid, Shannon K. McDonnell, Stephen N. Thibodeau |
| 1197-1206 | Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4 | Katrina A.B. Goddard, John S. Witte, Brian K. Suarez, William J. Catalona, Jane M. Olson |
| 1207-1218 | Segregation Analyses of 1,476 Population-Based Australian Families Affected by Prostate Cancer | Jisheng Cui, Margaret P. Staples, John L. Hopper, Dallas R. English, Margaret R.E. McCredie, Graham G. Giles |
| 1219-1228 | A Confidence-Set Approach for Finding Tightly Linked Genomic Regions | Shili Lin, James A. Rogers, Jason C. Hsu |
| 1229-1237 | Complexity and Power in Case-Control Association Studies | Jeffrey A. Longmate |
| 1238-1249 | Transformation of Sib-Pair Values for the Haseman-Elston Method | Daolong Wang, Shili Lin, Rong Cheng, Xin Gao, Fred A. Wright |
| 1250-1263 | Transmission/Disequilibrium Test Meets Measured Haplotype Analysis: Family-Based Association Analysis Guided by Evolution of Haplotypes | Howard Seltman, Kathryn Roeder, B. Devlin |
| 1264-1269 | Localization of a Gene (MCUL1 | N.A. Alam, S. Bevan, M. Churchman, E. Barclay, K. Barker, E.E.M. Jaeger, H.M. Nelson, E. Healy, A.C. Pembroke, P.S. Friedmann, K. Dalziel, E. Calonje, J. Anderson, P.J. August, M.G. Davies, R. Felix, C.S. Munro, M. Murdoch, J. Rendall, S. Kennedy, et al. | |
| 1270-1276 | Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14 | Meriel McEntagart, Nadine Norton, Hywel Williams, M. Dawn Teare, Melanie Dunstan, Philip Baker, Henry Houlden, Mary Reilly, Nick Wood, Peter S. Harper, P. Andrew Futreal, Nigel Williams, Nazneen Rahman |
| 1277-1282 | The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32 | Joost P.H. Drenth, Wayne H. Finley, Guido J. Breedveld, Leon Testers, Jan J. Michiels, G. Guillet, Alain Taieb, R. Lee Kirby, Peter Heutink |
| 1283-1289 | Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 | Murat Bastepe, Andrew H. Lane, Harald Jüppner |
| 1290-1294 | Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome | Karin Buiting, Angela Barnicoat, Christina Lich, Marcus Pembrey, Sue Malcolm, Bernhard Horsthemke |
| 1295-1298 | Null RPGRIP1 | Thaddeus P. Dryja, Scott M. Adams, Jonna L. Grimsby, Terri L. McGee, Dong-Hyun Hong, Tiansen Li, Sten Andréasson, Eliot L. Berson |
| 1299-1301 | Heteroplasmy of the Human mtDNA Control Region Remains Constant during Life | Maria Lagerström-Fermér, Charlotta Olsson, Lars Forsgren, Ann-Christine Syvänen |
| 1302-1307 | Broad and Narrow Heritabilities of Quantitative Traits in a Founder Population | Mark Abney, Mary Sara McPeek, Carole Ober |
| 1308-1312 | Announcements | |
| 1313 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1315-1320 | The Mitochondrial Gene Tree Comes of Age | Martin Richards, Vincent Macaulay |
| 1321-1326 | Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK | Ernst Reichenberger, Valdenize Tiziani, Shoji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica Gardner, Herman Hamersma, Sean Sellars, Rajkumar Ramesar, Andrew C. Lidral, Annmarie Sommer, Cassio M. Raposo do Amaral, Robert J. Gorlin, John B. Mulliken, Bjorn R. Olsen |
| 1327-1332 | De Novo Mutations in the Sodium-Channel Gene SCN1A | Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe |
| 1333-1343 | Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene | Biljana Ilkovski, Sandra T. Cooper, Kristen Nowak, Monique M. Ryan, Nan Yang, Christina Schnell, Hayley J. Durling, Laurence G. Roddick, Ian Wilkinson, Andrew J. Kornberg, Kevin J. Collins, Geoff Wallace, Peter Gunning, Edna C. Hardeman, Nigel G. Laing, Kathryn N. North |
| 1344-1352 | Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 | Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig |
| 1353-1360 | Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine | Torben Gjetting, Marie Petersen, Per Guldberg, Flemming Güttler |
| 1361-1372 | Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1 | Xiaofeng Sun, David L. Marks, Walter D. Park, Christine L. Wheatley, Vishwajeet Puri, John F. O’Brien, Daniel L. Kraft, Patrick A. Lundquist, Marc C. Patterson, Richard E. Pagano, Karen Snow |
| 1373-1385 | Niemann-Pick C1 Disease: Correlations between NPC1 | Gilles Millat, Christophe Marçais, Catherine Tomasetto, Karim Chikh, Anthony H. Fensom, Klaus Harzer, David A. Wenger, K. Ohno, Marie T. Vanier |
| 1386-1397 | The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda | A.K. Gedeon, G.E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I.A. Glass, R. Savarirayan, W.G. Cole, D.L. Rimoin, B.G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J.C. Mulley |
| 1398-1407 | A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda | George E. Tiller, Vickie L. Hannig, Damon Dozier, Laura Carrel, Karrie C. Trevarthen, William R. Wilcox, Stefan Mundlos, Jonathan L. Haines, Agi K. Gedeon, Jozef Gecz |
| 1408-1418 | Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency | Brage Storstein Andresen, Steve F. Dobrowolski, Linda O'Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul Engel, Edwin W. Naylor, Niels Gregersen |
| 1419-1427 | Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition | Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl |
| 1428-1436 | Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1 | Victoria H. Brophy, Rachel L. Jampsa, James B. Clendenning, Laura A. McKinstry, Gail P. Jarvik, Clement E. Furlong |
| 1437-1446 | Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma | Jianfeng Xu, Deborah A. Meyers, Carole Ober, Malcolm N. Blumenthal, Beverly Mellen, Kathleen C. Barnes, Richard A. King, Lucille A. Lester, Timothy D. Howard, Julian Solway, Carl D. Langefeld, Terri H. Beaty, Stephen S. Rich, Eugene R. Bleecker, Nancy J. Cox and the Collaborative Study on the Genetics of Asthma |
| 1447-1456 | The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures | Joshua M. Akey, Kun Zhang, Momiao Xiong, Peter Doris, Li Jin |
| 1457-1462 | Evaluation of Candidate Genes in Case-Control Studies: A Statistical Method to Account for Related Subjects | S.L. Slager, D.J. Schaid |
| 1463-1474 | The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples | Gonçalo R. Abecasis, William O.C. Cookson, Lon R. Cardon |
| 1475-1484 | Phylogenetic Network for European mtDNA | Saara Finnilä, Mervi S. Lehtonen, Kari Majamaa |
| 1485-1496 | Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome | Eduardo Tarazona-Santos, Denise R. Carvalho-Silva, Davide Pettener, Donata Luiselli, Gian Franco De Stefano, Cristina Martinez Labarga, Olga Rickards, Chris Tyler-Smith, Sérgio D.J. Pena, Fabrício R. Santos |
| 1497-1500 | X-Linked Creatine-Transporter Gene (SLC6A8 | Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, Cornelis Jakobs |
| 1501-1505 | The Human Aminophospholipid-Transporting ATPase Gene ATP10C | Laura B.K. Herzing, Soo-Jeong Kim, Edwin H. Cook, David H. Ledbetter |
| 1506-1513 | Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria | Miroslav Janošík, Jana Oliveriusová, Bohumila Janošíková, Jitka Sokolová, Eva Kraus, Jan P. Kraus, Viktor Kožich |
| 1514-1520 | Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity | Joseph D. Buxbaum, Jeremy M. Silverman, Christopher J. Smith, Mario Kilifarski, Jennifer Reichert, Eric Hollander, Brian A. Lawlor, Michael Fitzgerald, David A. Greenberg, Kenneth L. Davis |
| 1521-1526 | Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity | Michela Malacarne, Elena Gennaro, Francesca Madia, Sarah Pozzi, Daniela Vacca, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Paolo Bonanni, Pasquale De Marco, Antonio Gambardella, Lucio Giordano, Maria Luisa Lispi, Antonino Romeo, Enrica Santorum, Francesca Vanadia, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Franco Viri, et al. | |
| 1527-1532 | Equivalence between Haseman-Elston and Variance-Components Linkage Analyses for Sib Pairs | P.C. Sham, S. Purcell |
| 1533-1534 | Is Breast Cancer Part of the Tumor Spectrum of Hereditary Nonpolyposis Colorectal Cancer? | H.F.A. Vasen, H. Morreau, J.W.R. Nortier |
| 1534-1535 | Reply to Vasen et al. | Rodney J. Scott |
| 1535-1537 | Mitochondria and the Quality of Human Gametes | Francesco Giannelli |
| 1538-1541 | Announcements | |
| 1542 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-14 | Linkage Disequilibrium in Humans: Models and Data | Jonathan K. Pritchard, Molly Przeworski |
| 15-24 | Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency | Pragna I. Patel, Grazia Isaya |
| 25-34 | Mutations of the Protocadherin Gene PCDH15 | Zubair M. Ahmed, Saima Riazuddin, Steve L. Bernstein, Zahoor Ahmed, Shaheen Khan, Andrew J. Griffith, Robert J. Morell, Thomas B. Friedman, Sheikh Riazuddin, Edward R. Wilcox |
| 35-48 | Disorders of Peroxisome Biogenesis Due to Mutations in PEX1 | Claudia Walter, Jeannette Gootjes, Petra A. Mooijer, Herma Portsteffen, Christina Klein, Hans R. Waterham, Peter G. Barth, Jörg T. Epplen, Wolf-H. Kunau, Ronald J.A. Wanders, Gabriele Dodt |
| 49-54 | Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma | Dewi Astuti, Farida Latif, Ashraf Dallol, Patricia L.M. Dahia, Fiona Douglas, Emad George, Filip Sköldberg, Eystein S. Husebye, Charis Eng, Eamonn R. Maher |
| 55-66 | Etiological Point Mutations in the Hereditary Multiple Exostoses Gene EXT1: | Peter K. Cheung, Craig McCormick, Brett E. Crawford, Jeffrey D. Esko, Frank Tufaro, Gillian Duncan |
| 67-74 | A Nonsense Mutation in MSX1 | Dolrudee Jumlongras, Marianna Bei, Jean M. Stimson, Wen-Fang Wang, Steven R. DePalma, Christine E. Seidman, Ute Felbor, Richard Maas, Jonathan G. Seidman, Bjorn R. Olsen |
| 75-87 | Somatic Mosaicism in Hemophilia A: A Fairly Common Event | Marco Leuer, Johannes Oldenburg, Jean-Maurice Lavergne, Michael Ludwig, Andreas Fregin, Anton Eigel, Rolf Ljung, Anne Goodeve, Ian Peake, Klaus Olek |
| 88-95 | Homocysteine Metabolism in Children with Down Syndrome: In Vitro Modulation | Marta Pogribna, Stepan Melnyk, Igor Pogribny, Abalo Chango, Ping Yi, S. Jill James |
| 96-105 | A Schizophrenia-Susceptibility Locus at 6q25, in One of the World's Largest Reported Pedigrees | Eva Lindholm, Birgit Ekholm, Sarah Shaw, Paula Jalonen, Gunnel Johansson, Ulf Pettersson, Robin Sherrington, Rolf Adolfsson, Elena Jazin |
| 106-116 | Genomewide Linkage Analysis of Stature in Multiple Populations Reveals Several Regions with Evidence of Linkage to Adult Height | Joel N. Hirschhorn, Cecilia M. Lindgren, Mark J. Daly, Andrew Kirby, Stephen F. Schaffner, Noel P. Burtt, David Altshuler, Alex Parker, John D. Rioux, Jill Platko, Daniel Gaudet, Thomas J. Hudson, Leif C. Groop, Eric S. Lander |
| 117-123 | Quantitative-Trait-Locus Analysis of Body-Mass Index and of Stature, by Combined Analysis of Genome Scans of Five Finnish Study Groups | Markus Perola, Miina Öhman, Tero Hiekkalinna, Jenni Leppävuori, Päivi Pajukanta, Maija Wessman, Markku Koskenvuo, Aarno Palotie, Kenneth Lange, Jaakko Kaprio, Leena Peltonen |
| 124-137 | Are Rare Variants Responsible for Susceptibility to Complex Diseases? | Jonathan K. Pritchard |
| 138-147 | Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer | Marylyn D. Ritchie, Lance W. Hahn, Nady Roodi, L. Renee Bailey, William D. Dupont, Fritz F. Parl, Jason H. Moore |
| 148-158 | A Genome Screen of Families with Multiple Cases of Prostate Cancer: Evidence of Genetic Heterogeneity | Chih-lin Hsieh, Ingrid Oakley-Girvan, Raymond R. Balise, Jerry Halpern, Richard P. Gallagher, Anna H. Wu, Laurence N. Kolonel, Laura E. O'Brien, Iping G. Lin, David J. Van Den Berg, Chong-Ze Teh, Dee W. West, Alice S. Whittemore |
| 159-178 | High-Resolution Multipoint Linkage-Disequilibrium Mapping in the Context of a Human Genome Sequence | Bruce Rannala, Jeff P. Reeve |
| 179-190 | A Survey of Affected-Sibship Statistics for Nonparametric Linkage Analysis | Haydar Sengul, Daniel E. Weeks, Eleanor Feingold |
| 191-197 | A Mutation, in the Iron-Responsive Element of H Ferritin mRNA, Causing Autosomal Dominant Iron Overload | Junji Kato, Koshi Fujikawa, Megumi Kanda, Nao Fukuda, Katsunori Sasaki, Tetsuji Takayama, Masayoshi Kobune, Kohichi Takada, Rishu Takimoto, Hirofumi Hamada, Tatsuru Ikeda, Yoshiro Niitsu |
| 198-203 | Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1 | Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J.M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, Anita Blankenagel, Klaus Rohrschneider, Bernd Wissinger, Johan R.M. Cruysberg, August F. Deutman, Han G. Brunner, Eckart Apfelstedt-Sylla, Carel B. Hoyng, Frans P.M. Cremers |
| 204-208 | Single-Amino-Acid Deletion in the RYR1 | Nyamkhishig Sambuughin, Shona McWilliams, Astrid de Bantel, Kumaraswamy Sivakumar, Thomas E. Nelson |
| 209-215 | The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype | H. Patel, P.E. Hart, T.T. Warner, R.S. Houlston, M.A. Patton, S. Jeffery, A.H. Crosby |
| 216-222 | Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity | Alice Krebsová, Wolfgang Küster, Gilles G. Lestringant, Bernt Schulze, Britta Hinz, Philippe M. Frossard, André Reis, Hans Christian Hennies |
| 223-227 | Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1 | Stephen P. Robertson, Sinead Walsh, Michael Oldridge, Tania Gunn, David Becroft, Andrew O.M. Wilkie |
| 228-234 | A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A | Bo Dreyer, Lisbeth Tranebjærg, Vigdis Brox, Thomas Rosenberg, Claes Möller, Magdalena Beneyto, Michael D. Weston, William J. Kimberling, Øivind Nilssen |
| 235-237 | Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia | Axel M. Hillmer, Roland Kruse, Regina C. Betz, Johannes Schumacher, Uwe Heyn, Peter Propping, Markus M. Nöthen, Sven Cichon |
| 237-241 | The Presence of Mitochondrial Haplogroup X in Altaians from South Siberia | Miroslava V. Derenko, Tomasz Grzybowski, Boris A. Malyarchuk, Jakub Czarny, Danuta Miścicka-Śliwka, Ilia A. Zakharov |
| 242 | Cracking the Genome: Inside the Race to Unlock Human DNA | Stephen W. Scherer |
| 243-244 | Archaeogenetics: DNA and the Population Prehistory of Europe | Robert R. Sokal |
| 245-248 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 249-260 | Many Roads Lead to a Broken Heart: The Genetics of Dilated Cardiomyopathy | Jost Schönberger, Christine E. Seidman |
| 261-268 | Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome | Maria Clara Bonaglia, Roberto Giorda, Renato Borgatti, Giorgio Felisari, Chiara Gagliardi, Angelo Selicorni, Orsetta Zuffardi |
| 269-277 | Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia | Luisa Bonafé, Beat Thöny, Johann M. Penzien, Barbara Czarnecki, Nenad Blau |
| 278-290 | Two Genes That Map to the STSL | Kangmo Lu, Mi-Hye Lee, Starr Hazard, Angela Brooks-Wilson, Hideki Hidaka, Hideto Kojima, Leiv Ose, Anton F.H. Stalenhoef, Tatu Mietinnen, Ingemar Bjorkhem, Eric Bruckert, Arti Pandya, H. Bryan Brewer Jr, Gerald Salen, Michael Dean, Anand Srivastava, Shailendra B. Patel |
| 291-300 | Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD | John M. Graham Jr, Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers |
| 301-314 | The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, | Ivona Aksentijevich, Jérôme Galon, Miguel Soares, Elizabeth Mansfield, Keith Hull, Hye-Hyun Oh, Raphaela Goldbach-Mansky, Jane Dean, Balu Athreya, Antonio J. Reginato, Michael Henrickson, Bernardo Pons-Estel, John J. O’Shea, Daniel L. Kastner |
| 315-326 | Functional Complementation of a Genetic Deficiency with Human Artificial Chromosomes | José E. Mejía, Adrian Willmott, Elaine Levy, William C. Earnshaw, Zoia Larin |
| 327-340 | A Genomewide Screen for Autism Susceptibility Loci | Jianjun Liu, Dale R. Nyholt, Patrick Magnussen, Enrico Parano, Piero Pavone, Daniel Geschwind, Catherine Lord, Portia Iversen, Josephine Hoh, the Autism Genetic Resource Exchange Consortium, Jurg Ott, T. Conrad Gilliam |
| 341-350 | Linkage and Association Studies of Prostate Cancer Susceptibility: Evidence for Linkage at 8p22-23 | Jianfeng Xu, Siqun L. Zheng, Gregory A. Hawkins, Dennis A. Faith, Brian Kelly, Sarah D. Isaacs, Kathleen E. Wiley, Bao-li Chang, Charles M. Ewing, Piroska Bujnovszky, John D. Carpten, Eugene R. Bleecker, Patrick C. Walsh, Jeffrey M. Trent, Deborah A. Meyers, William B. Isaacs |
| 351-360 | Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel | Hagit Toledano-Alhadef, Lina Basel-Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat |
| 361-370 | Estimating the Efficacy and Efficiency of Cascade Genetic Screening | Michael Krawczak, David N. Cooper, Jörg Schmidtke |
| 371-380 | A Transmission/Disequilibrium Test That Allows for Genotyping Errors in the Analysis of Single-Nucleotide Polymorphism Data | Derek Gordon, Simon C. Heath, Xin Liu, Jürg Ott |
| 381-395 | Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β (TCRB | Lakshman Subrahmanyan, Michael A. Eberle, Andrew G. Clark, Leonid Kruglyak, Deborah A. Nickerson |
| 396-412 | Global Analysis of ATM | Yvonne R. Thorstenson, Peidong Shen, Virginia G. Tusher, Tierney L. Wayne, Ronald W. Davis, Gilbert Chu, Peter J. Oefner |
| 413-419 | Unusual Haplotypic Structure of IL8, | Jeremy Hull, Hans Ackerman, Kate Isles, Stanley Usen, Margaret Pinder, Anne Thomson, Dominic Kwiatkowski |
| 420-427 | A Novel Frameshift Mutation in Exon 23 of ATP7A | Susan L. Dagenais, Ayla N. Adam, Jeffrey W. Innis, Thomas W. Glover |
| 428-433 | Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and P300 Findings in a Family | D.H.R. Blackwood, A. Fordyce, M.T. Walker, D.M. St. Clair, D.J. Porteous, W.J. Muir |
| 434-439 | Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction | Terry J. Hassold, Lindsay C. Burrage, Ernest R. Chan, LuAnn M. Judis, Stuart Schwartz, S. Jill James, Patricia A. Jacobs, N. Simon Thomas |
| 440-446 | Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21 | James D. McKay, Fabienne Lesueur, Laurence Jonard, Alessandro Pastore, Jan Williamson, Linda Hoffman, John Burgess, Anne Duffield, Mauro Papotti, Markus Stark, Hagay Sobol, Béatrice Maes, Arnaud Murat, Helena Kääriäinen, Mireille Bertholon-Grégoire, Michele Zini, Mary Anne Rossing, Marie-Elisabeth Toubert, Françoise Bonichon, Marie Cavarec, et al. | |
| 447-453 | Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3 | Roel A. Ophoff, Joseph DeYoung, Susan K. Service, Marijke Joosse, Nathan A. Caffo, Lodewijk A. Sandkuijl, Gisela M. Terwindt, Joost Haan, Arn M.J.M. van den Maagdenberg, Joanna Jen, Robert W. Baloh, Maria-Louise Barilla-LaBarca, Nancy L. Saccone, John P. Atkinson, Michel D. Ferrari, Nelson B. Freimer, Rune R. Frants |
| 454-460 | Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33 | Michael J. Kelley, Jeannette F. Korczak, Eamonn Sheridan, Xiaohong Yang, Alisa M. Goldstein, Dilys M. Parry |
| 461-463 | The D13S171 Marker, Misannotated to BRCA2, Links the AS3 Gene to Various Cancers | Peter Geck, Carlos Sonnenschein, Ana M. Soto |
| 463-466 | The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions | Daniel H. Geschwind, Janice Sowinski, Catherine Lord, Portia Iversen, Jonathan Shestack, Patrick Jones, Lee Ducat, Sarah J. Spence and the AGRE Steering Committee |
| 467-469 | Announcements | |
| 470 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 471-480 | Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy | Susan E. Wilkie, Yang Li, Evelyne C. Deery, Richard J. Newbold, Daniel Garibaldi, J. Bronwyn Bateman, Heidi Zhang, Wei Lin, Donald J. Zack, Shomi S. Bhattacharya, Martin J. Warren, David M. Hunt, Kang Zhang |
| 481-492 | p63 | Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H.G. Duijf, Kaate R.J. Vanmolkot, Ellen van Beusekom, Sylvia E.C. van Beersum, Jacopo Celli, Gerard F.M. Merkx, Romano Tenconi, Jean Pierre Fryns, Alain Verloes, Ruth A. Newbury-Ecob, Annick Raas-Rotschild, Frank Majewski, Frits A. Beemer, Andreas Janecke, David Chitayat, et al. | |
| 493-503 | Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions | Yo Niida, Anat O. Stemmer-Rachamimov, Marian Logrip, Dagmar Tapon, Ronald Perez, David J. Kwiatkowski, Katherine Sims, Mia MacCollin, David N. Louis, Vijaya Ramesh |
| 504-515 | Demethylation, Reactivation, and Destabilization of Human Fragile X Full-Mutation Alleles in Mouse Embryocarcinoma Cells | Doris Wöhrle, Ulrike Salat, Horst Hameister, Walter Vogel, Peter Steinbach |
| 516-527 | Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions | Dieter E. Jenne, Sigrid Tinschert, Heike Reimann, Wolfgang Lasinger, Gundula Thiel, Horst Hameister, Hildegard Kehrer-Sawatzki |
| 528-543 | Paget Disease of Bone: Mapping of Two Loci at 5q35-qter and 5q31 | Nancy Laurin, Jacques P. Brown, Arnaud Lemainque, Annie Duchesne, Denys Huot, Yves Lacourcière, Gervais Drapeau, Jean Verreault, Vincent Raymond, Jean Morissette |
| 544-552 | Studies of Association between the Gene for Calpain-10 and Type 2 Diabetes Mellitus in the United Kingdom | Julie C. Evans, Timothy M. Frayling, Paul G. Cassell, Philip J. Saker, Graham A. Hitman, Mark Walker, Jonathan C. Levy, Stephen O’Rahilly, Pamidighantam V. Subba Rao, Amanda J. Bennett, Elizabeth C. Jones, Stephan Menzel, Philip Prestwich, Nikol Simecek, Marie Wishart, Ranjit Dhillon, Chris Fletcher, Ann Millward, Andrew Demaine, Terence Wilkin, et al. | |
| 553-569 | A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q | Steven Wiltshire, Andrew T. Hattersley, Graham A. Hitman, Mark Walker, Jonathan C. Levy, Michael Sampson, Stephen O’Rahilly, Timothy M. Frayling, John I. Bell, G. Mark Lathrop, Amanda Bennett, Ranjit Dhillon, Christopher Fletcher, Christopher J. Groves, Elizabeth Jones, Philip Prestwich, Nikol Simecek, Pamidighantam V. Subba Rao, Marie Wishart, Richard Foxon, et al. | |
| 570-581 | A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p | International Molecular Genetic Study of Autism Consortium (IMGSAC) |
| 582-589 | Lower-Than-Expected Linkage Disequilibrium between Tightly Linked Markers in Humans Suggests a Role for Gene Conversion | Kristin Ardlie, Shau Neen Liu-Cordero, Michael A. Eberle, Mark Daly, Jeff Barrett, Ellen Winchester, Eric S. Lander, Leonid Kruglyak |
| 590-600 | Optimized Group Sequential Study Designs for Tests of Genetic Linkage and Association in Complex Diseases | Inke R. König, Helmut Schäfer, Hans-Helge Müller, Andreas Ziegler |
| 601-614 | Quantitative Similarity-Based Association Tests Using Population Samples | Shuanglin Zhang, Hongyu Zhao |
| 615-628 | Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes | Tatiana Karafet, Liping Xu, Ruofu Du, William Wang, Shi Feng, R.S. Wells, Alan J. Redd, Stephen L. Zegura, Michael F. Hammer |
| 629-634 | PARK7, | C.M. van Duijn, M.C.J. Dekker, V. Bonifati, R.J. Galjaard, J.J. Houwing-Duistermaat, P.J.L.M. Snijders, L. Testers, G.J. Breedveld, M. Horstink, L.A. Sandkuijl, J.C. van Swieten, B.A. Oostra, P. Heutink |
| 635-640 | MYO6, | Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, Maria Lourdes Arbones, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Estivill, Karen B. Avraham, Paolo Gasparini |
| 641-646 | Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity | Louise A. Metherell, Scott A. Akker, Patricia B Munroe, Stephen J Rose, Mark Caulfield, Martin O. Savage, Shern L. Chew, Adrian J.L. Clark |
| 647-654 | Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 | Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens Bollerslev, Marie-Christine de Vernejoul, Wim Van Hul |
| 655-659 | Hereditary Sensory Neuropathy Type I: Haplotype Analysis Shows Founders in Southern England and Europe | G.A. Nicholson, J.L. Dawkins, I.P. Blair, M. Auer-Grumbach, S.B. Brahmbhatt, D.J. Hulme |
| 660-663 | The Significance of Not Finding a Gene | Michael A. Province |
| 664-665 | Female Patient Showing Hypohidrotic Ectodermal Dysplasia and Immunodeficiency (HED-ID) | Kenjiro Kosaki, Noriko Shimasaki, Hiroyuki Fukushima, Mitsuhiro Hara, Tsutomu Ogata, Nobutake Matsuo |
| 665-666 | Reply to Kosaki et al. | Jonathan Zonana, Betsy Ferguson |
| 667-668 | Genome Diversity: Applications in Human Population Genetics. | Rebecca L. Cann |
| 668 | Advances in Twin and Sib-Pair Analysis. | Stacey S. Cherny |
| 669-671 | Announcements | |
| 672 | Erratum | |
| 672 | Erratum | |
| 672 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 673-684 | Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 | Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Marja Sankila |
| 685-694 | Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis | Hans R. Waterham, Janet Koster, Gerrit Jan Romeijn, Raoul C.M. Hennekam, Peter Vreken, Hans C. Andersson, David R. FitzPatrick, Richard. I. Kelley, Ronald J.A. Wanders |
| 695-703 | Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation | Feng Zhao, Constance G. Weismann, Masahiko Satoda, Mary Ella M. Pierpont, Elizabeth Sweeney, Elizabeth M. Thompson, Bruce D. Gelb |
| 704-711 | Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes | Xiao-Ping Zhou, Kelly Woodford-Richens, Rainer Lehtonen, Keisuke Kurose, Micheala Aldred, Heather Hampel, Virpi Launonen, Sanno Virta, Robert Pilarski, Reijo Salovaara, Walter F. Bodmer, Beth A. Conrad, Malcolm Dunlop, Shirley V. Hodgson, Takeo Iwama, Heikki Järvinen, Ilmo Kellokumpu, J.C. Kim, Barbara Leggett, David Markie, et al. | |
| 712-721 | The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, | Chanika Phornphutkul, Yair Anikster, Marjan Huizing, Paula Braun, Chaya Brodie, Janice Y. Chou, William A. Gahl |
| 722-737 | CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders | Bernd Wissinger, Daphne Gamer, Herbert Jägle, Roberto Giorda, Tim Marx, Simone Mayer, Sabine Tippmann, Martina Broghammer, Bernhard Jurklies, Thomas Rosenberg, Samuel G. Jacobson, E. Cumhur Sener, Sinan Tatlipinar, Carel B. Hoyng, Claudio Castellan, Pierre Bitoun, Sten Andreasson, Günter Rudolph, Ulrich Kellner, Birgit Lorenz, et al. | |
| 738-748 | Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus | Michio Kuwahara, Kazuyuki Iwai, Toru Ooeda, Takashi Igarashi, Eishin Ogawa, Yuriko Katsushima, Itsuki Shinbo, Shinichi Uchida, Yoshio Terada, Marie-Francoise Arthus, Michele Lonergan, T. Mary Fujiwara, Daniel G. Bichet, Fumiaki Marumo, Sei Sasaki |
| 749-764 | A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum | Olivier Le Saux, Konstanze Beck, Christine Sachsinger, Chiara Silvestri, Carina Treiber, Harald H.H. Göring, Eric W. Johnson, Anne De Paepe, F. Michael Pope, Ivonne Pasquali-Ronchetti, Lionel Bercovitch, Sharon Terry, Charles D. Boyd |
| 765-773 | MC1R Genotype Modifies Risk of Melanoma in Families Segregating CDKN2A Mutations | Neil F. Box, David L. Duffy, Wei Chen, Mitchell Stark, Nicholas G. Martin, Richard A. Sturm, Nicholas K. Hayward |
| 774-779 | Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families with Melanoma | Pieter A. van der Velden, Lodewijk A. Sandkuijl, Wilma Bergman, Stan Pavel, Leny van Mourik, Rune R. Frants, Nelleke A. Gruis |
| 780-790 | The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas | Julie M. Cunningham, Cheong-Yong Kim, Eric R. Christensen, David J. Tester, Yann Parc, Lawrence J. Burgart, Kevin C. Halling, Shannon K. McDonnell, Daniel J. Schaid, Catherine Walsh Vockley, Vickie Kubly, Heidi Nelson, Virginia V. Michels, Stephen N. Thibodeau |
| 791-803 | An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family | T. Prescott Atkinson, Alejandro A. Schäffer, Bodo Grimbacher, Harry W. Schroeder Jr., Cristina Woellner, Christa S. Zerbe, Jennifer M. Puck |
| 804-819 | Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 | Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Kintomo Takakura, Tomokatsu Hori, Jun Takeda, Toshiaki Nakajima, Ituro Inoue |
| 820-830 | Seven Regions of the Genome Show Evidence of Linkage to Type 1 Diabetes in a Consensus Analysis of 767 Multiplex Families | Nancy J. Cox, Beth Wapelhorst, V. Anne Morrison, Lindsey Johnson, Lesya Pinchuk, Richard S. Spielman, John A. Todd, Patrick Concannon |
| 831-843 | Gene Conversion and Different Population Histories May Explain the Contrast between Polymorphism and Linkage Disequilibrium Levels | L. Frisse, R.R. Hudson, A. Bartoszewicz, J.D. Wall, J. Donfack, A. Di Rienzo |
| 844-852 | A Signal, from Human mtDNA, of Postglacial Recolonization in Europe | Antonio Torroni, Hans-Jürgen Bandelt, Vincent Macaulay, Martin Richards, Fulvio Cruciani, Chiara Rengo, Vicente Martinez-Cabrera, Richard Villems, Toomas Kivisild, Ene Metspalu, Jüri Parik, Helle-Viivi Tolk, Kristiina Tambets, Peter Forster, Bernd Karger, Paolo Francalacci, Pavao Rudan, Branka Janicijevic, Olga Rickards, Marja-Liisa Savontaus, et al. | |
| 853-862 | The Ising Model in Physics and Statistical Genetics | Jacek Majewski, Hao Li, Jurg Ott |
| 863-868 | Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population | Lisa Edelmann, Melissa P. Wasserstein, Ruth Kornreich, Claude Sansaricq, Selma E. Snyderman, George A. Diaz |
| 869-875 | A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease | Ruti Parvari, Irena Brodyansky, Orly Elpeleg, Shimon Moses, Daniel Landau, Eli Hershkovitz |
| 876-882 | Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 | Laura S. Schmidt, Michelle B. Warren, Michael L. Nickerson, Gregor Weirich, Vera Matrosova, Jorge R. Toro, Maria L. Turner, Paul Duray, Maria Merino, Stephen Hewitt, Christian P. Pavlovich, Gladys Glenn, Cheryl R. Greenberg, W. Marston Linehan, Berton Zbar |
| 883-888 | Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2 | M.L. Kennerson, D. Zhu, R.J.M. Gardner, E. Storey, J. Merory, S.P. Robertson, G.A. Nicholson |
| 889-894 | Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1 | Kristien Verhoeven, Marcello Villanova, Alessandro Rossi, Alessandro Malandrini, Peter De Jonghe, Vincent Timmerman |
| 895-899 | The Amyloid Precursor Protein Locus and Very-Late-Onset Alzheimer Disease | Jane M. Olson, Katrina A.B. Goddard, Doreen M. Dudek |
| 900-903 | Evidence of Linkage with HLA-DR in DRB1*15-Negative Families with Multiple Sclerosis | Arturs Ligers, David A. Dyment, Cristen J. Willer, A. Dessa Sadovnick, George Ebers, Neil Risch, Jan Hillert and the Canadian Collaborative Study Groups |
| 904 | Patterns of Y-Chromosome Variation in South Amerindians | Francisco Rothhammer, Mauricio Moraga |
| 904-906 | Reply to Rothhammer and Moraga | Eduardo Tarazona-Santos, Denise R. Carvalho-Silva, Davide Pettener, Donata Luiselli, Gian Franco De Stefano, Cristina Martinez-Labarga, Olga Rickards, Chris Tyler-Smith, Sérgio D.J. Pena, Fabrício R. Santos |
| 906-912 | Comparisons of Two Methods for Haplotype Reconstruction and Haplotype Frequency Estimation from Population Data | Shuanglin Zhang, Andrew J. Pakstis, Kenneth K. Kidd, Hongyu Zhao |
| 912-914 | Reply to Zhang et al. | Matthew Stephens, Nicholas J. Smith, Peter Donnelly |
| 915 | Decoding Darkness: The Search for the Genetic Causes of Alzheimer’s Disease. | Ulrich Finckh |
| 916-921 | Announcements | |
| 922 | Erratum | |
| 922 | Erratum | |
| 922 | Erratum | |
| 922 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 923-935 | At the Speed of Sound: Gene Discovery in the Auditory System | Barbara L. Resendes, Robin E. Williamson, Cynthia C. Morton |
| 936-950 | Genomewide Scans of Complex Human Diseases: True Linkage Is Hard to Find | Janine Altmüller, Lyle J. Palmer, Guido Fischer, Hagen Scherb, Matthias Wjst |
| 951-960 | Identification of TSIX, | Barbara R. Migeon, Ashis K. Chowdhury, Jennifer A. Dunston, Iain McIntosh |
| 961-968 | Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 | Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger, Olivier J.A. Camand, Marie-Laure Sobrier, Florence Dastot-Le Moal, Philippe Duquesnoy, Marc Abitbol, Paul Czernichow, Serge Amselem |
| 969-980 | A Mutation in COL9A1 | Malwina Czarny-Ratajczak, Jaana Lohiniva, Piotr Rogala, Kazimierz Kozlowski, Merja Perälä, Liisa Carter, Tim D. Spector, Lukasz Kolodziej, Ulpu Seppänen, Renata Glazar, Jan Królewski, Anna Latos-Bielenska, Leena Ala-Kokko |
| 981-988 | Mutations in the Human Orthologue of the Mouse underwhite | J.M. Newton, Orit Cohen-Barak, Nobuko Hagiwara, John M. Gardner, Muriel T. Davisson, Richard A. King, Murray H. Brilliant |
| 989-1001 | Haploinsufficiency for One COL3A1 | Ulrike Schwarze, Wouter I. Schievink, Elizabeth Petty, Michael R. Jaff, Dusica Babovic-Vuksanovic, Kenneth J. Cherry, Melanie Pepin, Peter H. Byers |
| 1002-1012 | Mutations in CGI-58, | Caroline Lefèvre, Florence Jobard, Frédéric Caux, Bakar Bouadjar, Aysen Karaduman, Roland Heilig, Hakima Lakhdar, Andreas Wollenberg, Jean-Luc Verret, Jean Weissenbach, Meral Özgüc, Mark Lathrop, Jean-François Prud'homme, Judith Fischer |
| 1013-1021 | Niemann-Pick Disease Type C: Spectrum of HE1 | Gilles Millat, Karim Chikh, Saule Naureckiene, David E. Sleat, Anthony H. Fensom, Katsumi Higaki, Milan Elleder, Peter Lobel, Marie T. Vanier |
| 1022-1032 | Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency | Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick, Anna B. Jeong, Maria D’Souza, Melanie Rausche, Jorge R. Toro, Muriel I. Kaiser-Kupfer, James G. White, William A. Gahl |
| 1033-1045 | Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes | Karen E. Heath, Angel Campos-Barros, Amos Toren, Galit Rozenfeld-Granot, Lena E. Carlsson, Judy Savige, Joyce C. Denison, Martin C. Gregory, James G. White, David F Barker, Andreas Greinacher, Charles J. Epstein, Marc J. Glucksman, John A. Martignetti |
| 1046-1054 | Frequency of XY Sperm Increases with Age in Fathers of Boys with Klinefelter Syndrome | Xiu Lowe, Brenda Eskenazi, David O. Nelson, Sharon Kidd, Angela Alme, Andrew J. Wyrobek |
| 1055-1061 | Genomewide Search in Familial Paget Disease of Bone Shows Evidence of Genetic Heterogeneity with Candidate Loci on Chromosomes 2q36, 10p13, and 5q35 | Lynne J. Hocking, Craig A. Herbert, Rosie K. Nicholls, Fiona Williams, Simon T. Bennett, Tim Cundy, Geoff C. Nicholson, Wim Wuyts, Wim Van Hul, Stuart H. Ralston |
| 1062-1067 | Excess of Twins among Affected Sibling Pairs with Autism: Implications for the Etiology of Autism | David A. Greenberg, Susan E. Hodge, Janice Sowinski, Doug Nicoll |
| 1068-1079 | The Genetic Dissection of Complex Traits in a Founder Population | Carole Ober, Mark Abney, Mary Sara McPeek |
| 1080-1094 | Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations | Michael W. Smith, James A. Lautenberger, Hyoung Doo Shin, Jean-Paul Chretien, Sadeep Shrestha, Dennis A. Gilbert, Stephen J. O’Brien |
| 1095-1112 | The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East | Almut Nebel, Dvora Filon, Bernd Brinkmann, Partha P. Majumder, Marina Faerman, Ariella Oppenheim |
| 1113-1126 | Phylogenetic and Familial Estimates of Mitochondrial Substitution Rates: Study of Control Region Mutations in Deep-Rooting Pedigrees | Evelyne Heyer, Ewa Zietkiewicz, Andrzej Rochowski, Vania Yotova, Jack Puymirat, Damian Labuda |
| 1127-1133 | Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans | Chike Bellarmine Item, Sylvia Stöckler-Ipsiroglu, Carmen Stromberger, Adolf Mühl, Maria Grazia Alessandrì, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni |
| 1134-1140 | Infantile Alexander Disease: Spectrum of GFAP | Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie N'guyen, Cyril Goizet, Antoinette Gelot, Robert Surtees, Jean-Michel Pedespan, Xavier Hernandorena, Monica Troncoso, Graziela Uziel, Albee Messing, Gérard Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug-Tanguy |
| 1141-1145 | Alpha-B Crystallin Gene (CRYAB | Vanita Berry, Peter Francis, M. Ashwin Reddy, Dean Collyer, Eranga Vithana, Ian MacKay, Gary Dawson, Alisoun H. Carey, Anthony Moore, Shomi S. Bhattacharya, Roy A. Quinlan |
| 1146-1148 | The Importance of Genealogy in Determining Genetic Associations with Complex Traits | Dina L. Newman, Mark Abney, Mary Sara McPeek, Carole Ober, Nancy J. Cox |
| 1149-1150 | Reporting of Linkage Results | Robert C. Elston |
| 1150-1152 | Examinations of Methylenetetrahydrofolate Reductase C677T and A1298C Mutations—and In Utero Viability | K.A. Volcik, S.H. Blanton, H. Northrup |
| 1152-1153 | Reply to Volcik et al. | James G. Donnelly, Phillip A. Isotalo |
| 1154 | Genetics and Public Health in the 20th Century. | Michele Caggana |
| 1155-1159 | Announcements | |
| 1160 | Erratum | |
| 1160 | Erratum | |
| 1160 | Erratum | |
| 1160 | Erratum | |
| i-v | Editorial Reviewers for 2001 | |
| vii-viii | This Month in the Journal | Kathryn Beauregard |
| 1161-1177 | Monogenic Dyslipidemias: Window on Determinants of Plasma Lipoprotein Metabolism | Robert A. Hegele |
| 1178-1185 | Nonsense and Frameshift Mutations in ZFHX1B, | Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki, Kanefusa Kato, Shin-ichi Sonta, Hiroshi Ono, Tsutomu Yamanaka, Masahiro Nagaya, Nobuaki Wakamatsu |
| 1186-1197 | The R22X Mutation of the SDHD | Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, Jean-Jacques Mourad, Pierre-François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaitre |
| 1198-1209 | Mutations in the Fukutin-Related Protein Gene (FKRP | Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni |
| 1210-1217 | Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome | The International IP Consortium |
| 1218-1224 | Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 | Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg |
| 1225-1235 | Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is Associated with Polymorphisms Upstream of PRNP | Simon Mead, Sukhvir P Mahal, John Beck, Tracy Campbell, Martin Farrall, Elizabeth Fisher, John Collinge |
| 1236-1244 | Type 2 Diabetes and Three Calpain-10 | Hui-Ju Tsai, Guangyun Sun, Daniel E. Weeks, Ritesh Kaushal, Michael Wolujewicz, Stephen T. McGarvey, Joseph Tufa, Satupaitea Viali, Ranjan Deka |
| 1245-1254 | The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy | W.P. Robinson, D.E. McFadden, M.D. Stephenson |
| 1255-1265 | Multipoint Genetic Mapping with Trisomy Data | Jinming Li, Stephanie L. Sherman, Neil Lamb, Hongyu Zhao |
| 1266-1270 | Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q | Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo Sequeira, Andrei Verner, Guy A. Rouleau |
| 1271-1277 | A Genomewide Search for Quantitative-Trait Loci Underlying Asthma | Xin Xu, Zhian Fang, Binyan Wang, Changzhong Chen, Wenwei Guang, Yongtang Jin, Jianghua Yang, Steve Lewitzky, Avram Aelony, Alex Parker, Joanne Meyer, Scott T. Weiss, Xiping Xu |
| 1278-1289 | Genomewide Multipoint Linkage Analysis of Seven Extended Palauan Pedigrees with Schizophrenia, by a Markov-Chain Monte Carlo Method | Nicola J. Camp, Susan L. Neuhausen, Josepha Tiobech, Anthony Polloi, Hilary Coon, Marina Myles-Worsley |
| 1290-1300 | Polysubstance Abuse–Vulnerability Genes: Genome Scans for Association, Using 1,004 Subjects and 1,494 Single-Nucleotide Polymorphisms | George R. Uhl, Qing-Rong Liu, Donna Walther, Judith Hess, Daniel Naiman |
| 1301-1313 | A Genomewide Scan for Type 1–Diabetes Susceptibility in Scandinavian Families: Identification of New Loci with Evidence of Interactions | European Consortium for IDDM Genome Studies |
| 1314-1331 | Origins and Divergence of the Roma (Gypsies) | David Gresham, Bharti Morar, Peter A. Underhill, Giuseppe Passarino, Alice A. Lin, Cheryl Wise, Dora Angelicheva, Francesc Calafell, Peter J. Oefner, Peidong Shen, Ivailo Tournev, Rosario de Pablo, Vaidutis Kuĉinskas, Anna Perez-Lezaun, Elena Marushiakova, Vesselin Popov, Luba Kalaydjieva |
| 1332-1347 | The Discovery of Single-Nucleotide Polymorphisms—and Inferences about Human Demographic History | John Wakeley, Rasmus Nielsen, Shau Neen Liu-Cordero, Kristin Ardlie |
| 1348-1356 | Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates | Antonio Torroni, Chiara Rengo, Valentina Guida, Fulvio Cruciani, Daniele Sellitto, Alfredo Coppa, Fernando Luna Calderon, Barbara Simionati, Giorgio Valle, Martin Richards, Vincent Macaulay, Rosaria Scozzari |
| 1357-1369 | Large Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans | Harald H.H. Göring, Joseph D. Terwilliger, John Blangero |
| 1370-1377 | Large-Scale Deletions and SMADIP1 | Jeanne Amiel, Yolanda Espinosa-Parrilla, Julie Steffann, Philippe Gosset, Anna Pelet, Marguerite Prieur, Odile Boute, Agnès Choiset, Didier Lacombe, Nicole Philip, Martine Le Merrer, Hajime Tanaka, Marianne Till, Renaud Touraine, Annick Toutain, Michel Vekemans, Arnold Munnich, Stanislas Lyonnet |
| 1378-1384 | A Missense Mutation in a Highly Conserved Region of CASQ2 | Hadas Lahat, Elon Pras, Tsviya Olender, Nili Avidan, Edna Ben-Asher, Orna Man, Etgar Levy-Nissenbaum, Asad Khoury, Avraham Lorber, Boleslaw Goldman, Doron Lancet, Michael Eldar |
| 1385-1388 | Huntington Disease Phenocopy Is a Familial Prion Disease | Richard C. Moore, Fengqing Xiang, Jeffrey Monaghan, Dong Han, Zhiping Zhang, Lars Edström, Maria Anvret, Stanley B. Prusiner |
| 1389-1394 | Parent-Specific Complementary Patterns of Histone H3 Lysine 9 and H3 Lysine 4 Methylation at the Prader-Willi Syndrome Imprinting Center | Zhenghan Xin, C. David Allis, Joseph Wagstaff |
| 1395-1400 | Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 | Dieter Kaufmann, Ralf Müller, Britta Bartelt, Michael Wolf, Karin Kunzi-Rapp, Clemens Oliver Hanemann, Raimund Fahsold, Christian Hein, Walther Vogel, Günter Assum |
| 1401-1406 | Evidence for a Susceptibility Gene, SLEV1, | Swapan K. Nath, Jennifer A. Kelly, Bahram Namjou, Tom Lam, Gail R. Bruner, R. Hal Scofield, Christopher E. Aston, John B. Harley |
| 1407-1409 | A Second Leaky Splice-Site Mutation in the Spastin Gene | Ingrid K. Svenson, Allison E. Ashley-Koch, Margaret A. Pericak-Vance, Douglas A. Marchuk |
| 1410-1412 | Announcements | |
| 1413 | Erratum | |
| 1413 | Erratum | |
| 1413 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-10 | Response to Allegations against James V. Neel in Darkness in El Dorado, | American Society of Human Genetics |
| 11-19 | A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass Trait | Randall D. Little, Colleen Folz, Susan P. Manning, Pamela M. Swain, Shan-Chuan Zhao, Brenda Eustace, Michelle M. Lappe, Lia Spitzer, Susan Zweier, Karen Braunschweiger, Youssef Benchekroun, Xintong Hu, Ronald Adair, Linda Chee, Michael G. FitzGerald, Craig Tulig, Anthony Caruso, Nia Tzellas, Alicia Bawa, Barbara Franklin, et al. | |
| 20-25 | Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency | Andreas Holzinger, Esther M. Maier, Cornelius Bück, Peter U. Mayerhofer, Matthias Kappler, James C. Haworth, Stanley P. Moroz, Hans-Beat Hadorn, J. Evan Sadler, Adelbert A. Roscher |
| 26-37 | Molecular and Clinical Characteristics of MSH6 | Maran J.W. Berends, Ying Wu, Rolf H. Sijmons, Rob G.J. Mensink, Tineke van der Sluis, Jannet M. Hordijk-Hos, Elisabeth G.E. de Vries, Harry Hollema, Arend Karrenbeld, Charles H. C.M. Buys, Ate G.J. van der Zee, Robert M.W. Hofstra, Jan H. Kleibeuker |
| 38-50 | C→U Editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoprotein B mRNA–Editing Enzyme | Debnath Mukhopadhyay, Shrikant Anant, Robert M. Lee, Susan Kennedy, David Viskochil, Nicholas O. Davidson |
| 51-59 | Genomewide Linkage Analysis of Celiac Disease in Finnish Families | Jianjun Liu, Suh-Hang Juo, Päivi Holopainen, Joseph Terwilliger, Xiaomei Tong, Adina Grunn, Miguel Brito, Peter Green, Kirsi Mustalahti, Markku Mäki, T. Conrad Gilliam, Jukka Partanen |
| 60-71 | Evidence for a Language Quantitative Trait Locus on Chromosome 7q in Multiplex Autism Families | Maricela Alarcón, Rita M. Cantor, Jianjun Liu, T. Conrad Gilliam Autism Genetic Resource Exchange Consortium, Daniel H. Geschwind |
| 72-82 | Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study | Mary F. Feitosa, Ingrid B. Borecki, Stephen S. Rich, Donna K. Arnett, Phyliss Sholinsky, Richard H. Myers, Mark Leppert, Michael A. Province |
| 83-100 | Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22 | Jeffrey A. Bailey, Amy M. Yavor, Luigi Viggiano, Doriana Misceo, Juliann E. Horvath, Nicoletta Archidiacono, Stuart Schwartz, Mariano Rocchi, Evan E. Eichler |
| 101-107 | The Map Problem: A Comparison of Genetic and Sequence-Based Physical Maps | Andrew T. DeWan, Antonio R. Parrado, Tara C. Matise, Suzanne M. Leal |
| 108-123 | Nucleotide Diversity and Haplotype Structure of the Human Angiotensinogen Gene in Two Populations | Toshiaki Nakajima, Lynn B. Jorde, Tomoaki Ishigami, Satoshi Umemura, Mitsuru Emi, Jean-Marc Lalouel, Ituro Inoue |
| 124-141 | A Unified Stepwise Regression Procedure for Evaluating the Relative Effects of Polymorphisms within a Gene Using Case/Control or Family Data: Application to HLA | Heather J. Cordell, David G. Clayton |
| 142-156 | Likelihood Formulation of Parent-of-Origin Effects on Segregation Analysis, Including Ascertainment | Fatemeh Haghighi, Susan E. Hodge |
| 157-169 | Bayesian Haplotype Inference for Multiple Linked Single-Nucleotide Polymorphisms | Tianhua Niu, Zhaohui S. Qin, Xiping Xu, Jun S. Liu |
| 170-180 | Relationship Inference from Trios of Individuals, in the Presence of Typing Error | Solveig K. Sieberts, Ellen M. Wijsman, Elizabeth A. Thompson |
| 181-191 | Statistics for Nonparametric Linkage Analysis of X-Linked Traits in General Pedigrees | Kyunghee K. Song, Eleanor Feingold, Daniel E. Weeks |
| 192-206 | The Dual Origin and Siberian Affinities of Native American Y Chromosomes | Jeffrey T. Lell, Rem I. Sukernik, Yelena B. Starikovskaya, Bing Su, Li Jin, Theodore G. Schurr, Peter A. Underhill, Douglas C. Wallace |
| 207-223 | Molecular Analysis of the β-Globin Gene Cluster in the Niokholo Mandenka Population Reveals a Recent Origin of the βS Senegal Mutation | Mathias Currat, Guy Trabuchet, David Rees, Pascale Perrin, Rosalind M. Harding, John B. Clegg, André Langaney, Laurent Excoffier |
| 224-229 | Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 | Debra A. Thompson, Christina L. McHenry, Yun Li, Julia E. Richards, Mohammad I. Othman, Eberhard Schwinger, Douglas Vollrath, Samuel G. Jacobson, Andreas Gal |
| 230-236 | Gene-Gene Interaction in Asthma: IL4RA | Timothy D. Howard, Gerard H. Koppelman, Jianfeng Xu, Siqun L. Zheng, Dirkje S. Postma, Deborah A. Meyers, Eugene R. Bleecker |
| 237-243 | Chromosome-12 Mapping of Late-Onset Alzheimer Disease among Caribbean Hispanics | R. Mayeux, J.H. Lee, S.N. Romas, D. Mayo, V. Santana, J. Williamson, A. Ciappa, H.Z. Rondon, P. Estevez, R. Lantigua, M. Medrano, M. Torres, Y. Stern, B. Tycko, J.A. Knowles |
| 244-250 | Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies | Valerie A. Street, Jeff D. Goldy, Alana S. Golden, Bruce L Tempel, Thomas D. Bird, Phillip F. Chance |
| 251-256 | A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q | Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana Amélia Simões Lopes, Veronique Mayeux-Portas, Robert H. Brown Jr., Vincent Meininger, William Camu, Guy A. Rouleau |
| 257-264 | Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified? | Eva Mateu, Francesc Calafell, Maria Dolors Ramos, Teresa Casals, Jaume Bertranpetit |
| 265-268 | Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny | Ornella Semino, A. Silvana Santachiara-Benerecetti, Francesco Falaschi, L. Luca Cavalli-Sforza, Peter A. Underhill |
| 269-278 | A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes | Michel van Geel, Evan E. Eichler, Amy F. Beck, Zhihong Shan, Thomas Haaf, Silvère M. van der Maarel, Rune R. Frants, Pieter J. de Jong |
| 279 | Genetics and Criminal Behavior | David T. Lykken |
| 280-283 | Announcements | |
| 284 | Erratum | |
| 284 | Erratum | |
| 284 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 285-296 | On Black Boxes and Storytellers: Lessons Learned in Human Genetics | Huntington F. Willard |
| 297-299 | Introductory Speech for Charles J. Epstein | Arno G. Motulsky |
| 300-313 | From Down Syndrome to the “Human” in “Human Genetics” | Charles J. Epstein |
| 314-316 | Introductory Speech for Charles Scriver | David Valle |
| 317-323 | … And Know the Place for the First Time | Charles R. Scriver |
| 324-335 | Mutations in a Novel CLN6 | Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola, Susan L. Cotman, Lakshmi Srinidhi, Kristen Auger Antonellis, Tammy Gillis, Xuebin Qin, Shumei Liu, Leah R. Donahue, Roderick T. Bronson, Jerry R. Faust, Derek Stout, Jonathan L. Haines, Terry J. Lerner, Marcy E. MacDonald |
| 336-348 | Inherited Interleukin-12 Deficiency: IL12B | Capucine Picard, Claire Fieschi, Frédéric Altare, Suliman Al-Jumaah, Sami Al-Hajjar, Jacqueline Feinberg, Stéphanie Dupuis, Claire Soudais, Ibrahim Zaid Al-Mohsen, Emmanuelle Génin, David Lammas, Dinakantha S. Kumararatne, Tony Leclerc, Arash Rafii, Husn Frayha, Belinda Murugasu, Lee Bee Wah, Raja Sinniah, Michael Loubser, Emi Okamoto, et al. | |
| 349-357 | A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians | Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M. Walker, Paul K. Lovelock, David Good, Heather Tate, Denise Watego, Maureen Marczak, Noel Hayman, Joanne T.E. Shaw |
| 358-368 | Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy | Markus Feldkötter, Verena Schwarzer, Radu Wirth, Thomas F. Wienker, Brunhilde Wirth |
| 369-383 | Complex Signatures of Natural Selection at the Duffy Blood Group Locus | Martha T. Hamblin, Emma E. Thompson, Anna Di Rienzo |
| 384-398 | A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment | The SLI Consortium |
| 399-411 | A Statistical Method for Identification of Polymorphisms That Explain a Linkage Result | Lei Sun, Nancy J. Cox, Mary Sara McPeek |
| 412-424 | A Score-Statistic Approach for the Mapping of Quantitative-Trait Loci with Sibships of Arbitrary Size | K. Wang, J. Huang |
| 425-434 | Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous | Daniel J. Schaid, Charles M. Rowland, David E. Tines, Robert M. Jacobson, Gregory A. Poland |
| 435-447 | Gdnf | Liya Shen, José G. Pichel, Thomas Mayeli, Hannu Sariola, Bai Lu, Heiner Westphal |
| 448-460 | Digenic Inheritance of Early-Onset Glaucoma: CYP1B1 | Andrea L. Vincent, Gail Billingsley, Yvonne Buys, Alex V. Levin, Megan Priston, Graham Trope, Donna Williams-Lyn, Elise Héon |
| 461-471 | A Perspective on Epistasis: Limits of Models Displaying No Main Effect | Robert Culverhouse, Brian K. Suarez, Jennifer Lin, Theodore Reich |
| 472-486 | Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis | Shih-hsin Kan, Navaratnam Elanko, David Johnson, Laura Cornejo-Roldan, Jackie Cook, Elsa W. Reich, Susan Tomkins, Alain Verloes, Stephen R.F. Twigg, Sahan Rannan-Eliya, Donna M. McDonald-McGinn, Elaine H. Zackai, Steven A. Wall, Maximilian Muenke, Andrew O.M. Wilkie |
| 487-495 | Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data | Julie A. Douglas, Andrew D. Skol, Michael Boehnke |
| 496-508 | Detection and Integration of Genotyping Errors in Statistical Genetics | Eric Sobel, Jeanette C. Papp, Kenneth Lange |
| 509-516 | Genomewide Search for Type 2 Diabetes Mellitus Susceptibility Loci in Finnish Families: The Botnia Study | C.M. Lindgren, M.M. Mahtani, E. Widén, M.I. McCarthy, M.J. Daly, A. Kirby, M.P. Reeve, L. Kruglyak, A. Parker, J. Meyer, P. Almgren, M. Lehto, T. Kanninen, T. Tuomi, L.C. Groop, E.S. Lander |
| 517-525 | Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23 | David A. Good, Frances Busfield, Barbara H. Fletcher, David L. Duffy, Janine B. Kesting, John Andersen, Joanne T.E. Shaw |
| 526-529 | Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs | Michael C. Neale, Benjamin M. Neale, Patrick F. Sullivan |
| 530-536 | Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus | Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, Michaella C. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Steven Petrou |
| 537-542 | The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6 | Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth E. Williams, Sara E. Mole |
| 543-546 | Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes | Steven Wiltshire, Timothy M. Frayling, Andrew T. Hattersley, Graham A. Hitman, Mark Walker, Jonathan C. Levy, Stephen O'Rahilly, Christopher J. Groves, Stephan Menzel, Lon R. Cardon, Mark I. McCarthy |
| 547-555 | A 117-kb Microdeletion Removing HOXD9 | Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J. Scambler |
| 556-558 | HLODs Remain Powerful Tools for Detection of Linkage in the Presence of Genetic Heterogeneity | Susan E. Hodge, Veronica J. Vieland, David A. Greenberg |
| 558-559 | Reply to Hodge et al. | Alice S. Whittemore, Jerry Halpern |
| 560-564 | Announcements | |
| 565 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 567-574 | A Quantitative-Trait Locus in the Human Factor XII Gene Influences Both Plasma Factor XII Levels and Susceptibility to Thrombotic Disease | José Manuel Soria, Laura Almasy, Juan Carlos Souto, Delphine Bacq, Alfonso Buil, Alexandra Faure, Elisabeth Martínez-Marchán, José Mateo, Montserrat Borrell, William Stone, Mark Lathrop, Jordi Fontcuberta, John Blangero |
| 575-585 | Bias in Estimates of Quantitative-Trait–Locus Effect in Genome Scans: Demonstration of the Phenomenon and a Method-of-Moments Procedure for Reducing Bias | David B. Allison, Jose R. Fernandez, Moonseong Heo, Shankuan Zhu, Carol Etzel, T. Mark Beasley, Christopher I. Amos |
| 586-592 | Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31 | Gudmundur Gudmundsson, Stefan E. Matthiasson, Haukur Arason, Halldor Johannsson, Freyr Runarsson, Hjördis Bjarnason, Katrin Helgadottir, Steinthora Thorisdottir, Gudrun Ingadottir, Klaus Lindpaintner, Jesus Sainz, Vilmundur Gudnason, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, Kari Stefansson |
| 593-603 | Localization of a Susceptibility Gene for Common Forms of Stroke to 5q12 | Solveig Gretarsdottir, Sigurlaug Sveinbjörnsdottir, Hjörtur H. Jonsson, Finnbogi Jakobsson, Elisabet Einarsdottir, Uggi Agnarsson, Dana Shkolny, Gisli Einarsson, Herdis M. Gudjonsdottir, Einar M. Valdimarsson, Olafur B. Einarsson, Gudmundur Thorgeirsson, Radinka Hadzic, Sif Jonsdottir, Sigridur Th. Reynisdottir, Sigrun M. Bjarnadottir, Thorunn Gudmundsdottir, Gudrun J. Gudlaugsdottir, Ramanjit Gill, Klaus Lindpaintner, et al. | |
| 604-611 | Epigenetic Alterations of H19 | Michael R. DeBaun, Emily L. Niemitz, D. Elizabeth McNeil, Sheri A. Brandenburg, Maxwell P. Lee, Andrew P. Feinberg |
| 612-624 | Mutational Spectrum in the PEX7 | Alison M. Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F. Tabak, Ronald J.A. Wanders, Hans R. Waterham |
| 625-634 | Mutation Patterns at Dinucleotide Microsatellite Loci in Humans | Qing-Yang Huang, Fu-Hua Xu, Hui Shen, Hong-Yi Deng, Yong-Jun Liu, Yao-Zhong Liu, Jin-Long Li, Robert R. Recker, Hong-Wen Deng |
| 635-651 | Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese | Yong-Gang Yao, Qing-Peng Kong, Hans-Jürgen Bandelt, Toomas Kivisild, Ya-Ping Zhang |
| 652-662 | A Susceptibility Locus for Migraine with Aura, on Chromosome 4q24 | Maija Wessman, Mikko Kallela, Mari A. Kaunisto, Pia Marttila, Eric Sobel, Jaana Hartiala, Greg Oswell, Suzanne M. Leal, Jeanette C. Papp, Eija Hämäläinen, Petra Broas, Geoffrey Joslyn, Iiris Hovatta, Tero Hiekkalinna, Jaakko Kaprio, Jürg Ott, Rita M. Cantor, John-Anker Zwart, Matti Ilmavirta, Hannele Havanka, et al. | |
| 663-672 | Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, | Patrick Frosk, Tracey Weiler, Edward Nylen, Thangirala Sudha, Cheryl R. Greenberg, Kenneth Morgan, T. Mary Fujiwara, Klaus Wrogemann |
| 673-685 | Extensive Linkage Disequilibrium in Small Human Populations in Eurasia | Henrik Kaessmann, Sebastian Zöllner, Anna C. Gustafsson, Victor Wiebe, Maris Laan, Joakim Lundeberg, Mathias Uhlén, Svante Pääbo |
| 686-707 | Fine-Scale Mapping of Disease Loci via Shattered Coalescent Modeling of Genealogies | A.P. Morris, J.C. Whittaker, D.J. Balding |
| 708-717 | Association of Polymorphisms in the Apolipoprotein E Region with Susceptibility to and Progression of Multiple Sclerosis | Silke Schmidt, Lisa F. Barcellos, Karen DeSombre, Jacqueline B. Rimmler, Robin R. Lincoln, Patricia Bucher, Ann M. Saunders, Eric Lai, Eden R. Martin, Jeffery M. Vance, Jorge R. Oksenberg, Stephen L. Hauser, Margaret A. Pericak-Vance, Jonathan L. Haines, Multiple Sclerosis Genetics Group |
| 718-725 | A Polymorphism in the Human UGRP1 | Tomoaki Niimi, Mitsuru Munakata, Catherine L. Keck-Waggoner, Nicholas C. Popescu, Roy C. Levitt, Michie Hisada, Shioko Kimura |
| 726-736 | Homozygous Defects in LMNA, | Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel Grid, Nicolas Lévy |
| 737-750 | Ethnic-Difference Markers for Use in Mapping by Admixture Linkage Disequilibrium | Heather E. Collins-Schramm, Carolyn M. Phillips, Darwin J. Operario, Jane S. Lee, James L. Weber, Robert L. Hanson, William C. Knowler, Richard Cooper, Hongzhe Li, Michael F. Seldin |
| 751-757 | Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting | Sanjay Shete, Christopher I. Amos |
| 758-762 | The Frequent 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphism Is Associated with a Common Haplotype in Whites, Japanese, and Africans | Nurit Rosenberg, Mitsuru Murata, Yasuo Ikeda, Ohene Opare-Sem, Ariella Zivelin, Eli Geffen, Uri Seligsohn |
| 763-769 | A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1, | I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives, G.A. Rouleau |
| 770-775 | A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation | Peter A. Kanetsky, Jennifer Swoyer, Saarene Panossian, Robin Holmes, DuPont Guerry, Timothy R. Rebbeck |
| 776-780 | CFC1 | Elizabeth Goldmuntz, Richard Bamford, Jayaprakash D. Karkera, June dela Cruz, Erich Roessler, Maximilian Muenke |
| 781-786 | Association between Single-Nucleotide Polymorphisms in Selectin Genes and Immunoglobulin A Nephropathy | Takashi Takei, Aritoshi Iida, Kosaku Nitta, Toshihiro Tanaka, Yozo Ohnishi, Ryo Yamada, Shiro Maeda, Tatsuhiko Tsunoda, Sachiyo Takeoka, Kyoko Ito, Kazuho Honda, Keiko Uchida, Ken Tsuchiya, Yasushi Suzuki, Tomoaki Fujioka, Takashi Ujiie, Yutaka Nagane, Satoru Miyano, Ichiei Narita, Fumitake Gejyo, et al. | |
| 787-792 | Evidence for a Susceptibility Gene for Anorexia Nervosa on Chromosome 1 | D.E. Grice, K.A. Halmi, M.M. Fichter, M. Strober, D.B. Woodside, J.T. Treasure, A.S. Kaplan, P.J. Magistretti, D. Goldman, C.M. Bulik, W.H. Kaye, W.H. Berrettini |
| 793-799 | Evidence of Genetic Interaction between the β-Globin Complex and Chromosome 8q in the Expression of Fetal Hemoglobin | Chad P. Garner, Thanusak Tatu, Steve Best, Lisa Creary, Swee Lay Thein |
| 800-805 | A Genomewide Linkage Screen for Relative Hand Skill in Sibling Pairs | Clyde Francks, Simon E. Fisher, I. Laurence MacPhie, Alex J. Richardson, Angela J. Marlow, John F. Stein, Anthony P. Monaco |
| 806-812 | A Variation in 3′ UTR of hPTP1B | Rosa Di Paola, Lucia Frittitta, Giuseppe Miscio, Maura Bozzali, Roberto Baratta, Marta Centra, Daniela Spampinato, Maria Grazia Santagati, Tonino Ercolino, Carmela Cisternino, Teresa Soccio, Sandra Mastroianno, Vittorio Tassi, Peter Almgren, Antonio Pizzuti, Riccardo Vigneri, Vincenzo Trischitta |
| 813-817 | Individual-Specific Liability Groups in Genetic Linkage, with Applications to Kindreds with Li-Fraumeni Syndrome | Sanjay Shete, Christopher I. Amos, Shih-Jen Hwang, Louise C. Strong |
| 818-819 | Sibling Recurrence Risk Ratio as a Measure of Genetic Effect: Caveat Emptor! | Sun-Wei Guo |
| 820-821 | Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects | Albert R. La Spada |
| 822-828 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 829-844 | Protean PTEN: Form and Function | Kristin A. Waite, Charis Eng |
| 845-857 | CARD15/NOD2 | Suzanne Lesage, Habib Zouali, Jean-Pierre Cézard the EPWG-IBD group, Jean-Frédéric Colombel the EPIMAD group, Jacques Belaiche the GETAID group, Sven Almer, Curt Tysk, Colm O'Morain, Miquel Gassull, Vibeke Binder, Yigael Finkel, Robert Modigliani, Corinne Gower-Rousseau, Jeanne Macry, Françoise Merlin, Mathias Chamaillard, Anne-Sophie Jannot, Gilles Thomas, Jean-Pierre Hugot |
| 858-865 | Distinct BRCA1 | Nadine Puget, Sophie Gad, Laure Perrin-Vidoz, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Gilbert M. Lenoir, Sylvie Mazoyer |
| 866-874 | Mutations in a Novel Factor, Glomulin, | Pascal Brouillard, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Michella Ghassibé, Matthew L. Warman, O.T. Tan, Bjorn R. Olsen, Miikka Vikkula |
| 875-885 | Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome | Kinji Ohno, Andrew G. Engel, Xin-Ming Shen, Duygu Selcen, Joan Brengman, C. Michel Harper, Akira Tsujino, Margherita Milone |
| 886-895 | Ascertainment-Adjusted Parameter Estimates Revisited | Michael P. Epstein, Xihong Lin, Michael Boehnke |
| 896-904 | Genomewide Scan of Hoarding in Sib Pairs in Which Both Sibs Have Gilles de la Tourette Syndrome | Heping Zhang, James F. Leckman, David L. Pauls, Chin-Pei Tsai, Kenneth K. Kidd, M. Rosario Campos and The Tourette Syndrome Association International Consortium for Genetics |
| 905-919 | The Structure of Diversity within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America | Ripan S. Malhi, Jason A. Eshleman, Jonathan A. Greenberg, Deborah A. Weiss, Beth A. Schultz Shook, Frederika A. Kaestle, Joseph G. Lorenz, Brian M. Kemp, John R. Johnson, David Glenn Smith |
| 920-934 | Quantitative-Trait Homozygosity and Association Mapping and Empirical Genomewide Significance in Large, Complex Pedigrees: Fasting Serum-Insulin Level in the Hutterites | Mark Abney, Carole Ober, Mary Sara McPeek |
| 935-942 | A Polymorphism in the β1 Adrenergic Receptor Is Associated with Resting Heart Rate | Koustubh Ranade, Eric Jorgenson, Wayne H.-H. Sheu, Dee Pei, Chao Agnes Hsiung, Fu-tien Chiang, Yii-der I. Chen, Richard Pratt, Richard A. Olshen, David Curb, David R. Cox, David Botstein, Neil Risch |
| 943-954 | A Mutation in the SOS1 | Thomas C. Hart, Yingze Zhang, Michael C. Gorry, P. Suzanne Hart, Margaret Cooper, Mary L. Marazita, Jared M. Marks, Jose R. Cortelli, Debora Pallos |
| 955-964 | Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 | Erica R. Eichers, Jane S. Green, David W. Stockton, Christopher S. Jackman, James Whelan, J. Arch McNamara, Gordon J. Johnson, James R. Lupski, Nicholas Katsanis |
| 965-971 | Protecting Subjects' Interests in Genetics Research | Jon F. Merz, David Magnus, Mildred K. Cho, Arthur L. Caplan |
| 972-984 | The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin | Christa Lese Martin, Andrew Wong, Alyssa Gross, June Chung, Judy A. Fantes, David H. Ledbetter |
| 985-993 | Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled | Yi-Ju Li, William K. Scott, Dale J. Hedges, Fengyu Zhang, P. Craig Gaskell, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Matthew B. Stern, Bradley C. Hiner, Joseph Jankovic, Fred H. Allen Jr, Christopher G. Goetz, Frank Mastaglia, Jeffrey M. Stajich, Rachel A. Gibson, Lefkos T. Middleton, Ann M. Saunders, et al. | |
| 994-1002 | Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype | Satoshi Ishii, Shoichiro Nakao, Reiko Minamikawa-Tachino, Robert J. Desnick, Jian-Qiang Fan |
| 1003-1008 | A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 | Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M. Weiss, Mara Sifry-Platt, Arthur W. Grix, John M. Graham Jr, Robin M. Winter, Richard J. Leventer, William B. Dobyns |
| 1009-1014 | Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis | Olga A. Derbeneva, Elena B. Starikovskaya, Douglas C. Wallace, Rem I. Sukernik |
| 1015-1022 | Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition | Heidemarie Neitzel, Luitgard M. Neumann, Detlev Schindler, Andreas Wirges, Holger Tönnies, Marc Trimborn, Alice Krebsova, Reyk Richter, Karl Sperling |
| 1023-1027 | Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population | Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich |
| 1028-1033 | An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 | Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth W. Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh |
| 1034-1037 | A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 | Sabine M. Klauck, Susan Lindsay, Kim S. Beyer, Miranda Splitt, John Burn, Annemarie Poustka |
| 1038-1043 | Evolutionary Fate of an Unstable Human Minisatellite Deduced from Sperm-Mutation Spectra of Individual Alleles | Jérôme Buard, Charles Brenner, Alec J. Jeffreys |
| 1044-1048 | A New Susceptibility Locus for Autosomal Dominant Pancreatic Cancer Maps to Chromosome 4q32-34 | Michael A. Eberle, Roland Pfützer, Kay L. Pogue-Geile, Mary P. Bronner, David Crispin, Michael B. Kimmey, Richard H. Duerr, Leonid Kruglyak, David C. Whitcomb, Teresa A. Brentnall |
| 1049-1053 | X-Linked Cone-Rod Dystrophy (Locus COD1 | F. Yesim K. Demirci, Brian W. Rigatti, Gaiping Wen, Amy L. Radak, Tammy S. Mah, Corrine L. Baic, Elias I. Traboulsi, Tiina Alitalo, Juliane Ramser, Michael B. Gorin |
| 1054-1057 | Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II | Maryann L. Huie, Kwame Anyane-Yeboa, Edwin Guzman, Rochelle Hirschhorn |
| 1058-1061 | Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder | Yujun Shao, Kimberly L. Raiford, Chantelle M. Wolpert, Heidi A. Cope, Sarah A. Ravan, Allison A. Ashley-Koch, Ruth K. Abramson, Harry H. Wright, Robert G. DeLong, John R. Gilbert, Michael L. Cuccaro, Margaret A. Pericak-Vance |
| 1062-1068 | A PEX6 | Annick Raas-Rothschild, Ronald J.A. Wanders, Petra A.W. Mooijer, Jeannette Gootjes, Hans R. Waterham, Alisa Gutman, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo, Gideon Eshel, Marc Espeel, Frank Roels, Stanley H. Korman |
| 1069-1071 | Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer Treated with Potentially Mutagenic Therapies | Marvin L. Meistrich, Julianne Byrne |
| 1072-1073 | Announcements | |
| 1074-1075 | Erratum | |
| 1075 | Erratum | |
| 1075 | Erratum | |
| 1075 | Erratum | |
| 1075 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1077-1088 | Genomic Disorders on 22q11 | Heather E. McDermid, Bernice E. Morrow |
| 1089-1095 | PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the Gene | Anita L. DeStefano, Mark F. Lew, Lawrence I. Golbe, Margery H. Mark, Alice M. Lazzarini, Mark Guttman, Erwin Montgomery, Cheryl H. Waters, Carlos Singer, Ray L. Watts, Lillian J. Currie, G. Frederick Wooten, Nancy E. Maher, Jemma B. Wilk, Kristin M. Sullivan, Karen M. Slater, Marie H. Saint-Hilaire, Robert G. Feldman, Oksana Suchowersky, Anne-Louise Lafontaine, et al. | |
| 1096-1106 | Geographic and Haplotype Structure of Candidate Type 2 Diabetes-Susceptibility Variants at the Calpain-10 | Stephanie M. Fullerton, Angelika Bartoszewicz, Gustavo Ybazeta, Yukio Horikawa, Graeme I. Bell, Kenneth K. Kidd, Nancy J. Cox, Richard R. Hudson, Anna Di Rienzo |
| 1107-1124 | Y-Chromosomal DNA Variation in Pakistan | Raheel Qamar, Qasim Ayub, Aisha Mohyuddin, Agnar Helgason, Kehkashan Mazhar, Atika Mansoor, Tatiana Zerjal, Chris Tyler-Smith, S. Qasim Mehdi |
| 1125-1137 | Genetic Dissection of the Human Leukocyte Antigen Region by Use of Haplotypes of Tasmanians with Multiple Sclerosis | Justin P. Rubio, Melanie Bahlo, Helmut Butzkueven, Ingrid A.F. van der Mei, Michèle M. Sale, Joanne L. Dickinson, Patricia Groom, Laura J. Johnson, Rex D. Simmons, Brian Tait, Mike Varney, Bruce Taylor, Terence Dwyer, Robert Williamson, Nicholas M. Gough, Trevor J. Kilpatrick, Terence P. Speed, Simon J. Foote |
| 1138-1151 | A Genomewide Linkage Scan for Quantitative-Trait Loci for Obesity Phenotypes | Hong-Wen Deng, Hongyi Deng, Yong-Jun Liu, Yao-Zhong Liu, Fu-Hua Xu, Hui Shen, Theresa Conway, Jin-Long Li, Qing-Yang Huang, K.M. Davies, Robert R. Recker |
| 1152-1171 | Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups | Corinna Herrnstadt, Joanna L. Elson, Eoin Fahy, Gwen Preston, Douglass M. Turnbull, Christen Anderson, Soumitra S. Ghosh, Jerrold M. Olefsky, M. Flint Beal, Robert E. Davis, Neil Howell |
| 1172-1182 | Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations | M.A. Hall, P.J. Norman, B. Thiel, H. Tiwari, A. Peiffer, R.W. Vaughan, S. Prescott, M. Leppert, N.J. Schork, J.S. Lanchbury |
| 1183-1196 | A Genomewide Scan for Loci Involved in Attention-Deficit/Hyperactivity Disorder | Simon E. Fisher, Clyde Francks, James T. McCracken, James J. McGough, Angela J. Marlow, I. Laurence MacPhie, Dianne F. Newbury, Lori R. Crawford, Christina G.S. Palmer, J. Arthur Woodward, Melissa Del’Homme, Dennis P. Cantwell, Stanley F. Nelson, Anthony P. Monaco, Susan L. Smalley |
| 1197-1214 | A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes | Fulvio Cruciani, Piero Santolamazza, Peidong Shen, Vincent Macaulay, Pedro Moral, Antonel Olckers, David Modiano, Susan Holmes, Giovanni Destro-Bisol, Valentina Coia, Douglas C. Wallace, Peter J. Oefner, Antonio Torroni, L. Luca Cavalli-Sforza, Rosaria Scozzari, Peter A. Underhill |
| 1215-1228 | The TRIM37 | Jukka Kallijärvi, Kristiina Avela, Marita Lipsanen-Nyman, Ismo Ulmanen, Anna-Elina Lehesjoki |
| 1229-1239 | Genomewide Linkage Analysis of Quantitative Spirometric Phenotypes in Severe Early-Onset Chronic Obstructive Pulmonary Disease | Edwin K. Silverman, Lyle J. Palmer, Jonathan D. Mosley, Matthew Barth, Jody M. Senter, Alison Brown, Jeffrey M. Drazen, David J. Kwiatkowski, Harold A. Chapman, Edward J. Campbell, Michael A. Province, D.C. Rao, John J. Reilly, Leo C. Ginns, Frank E. Speizer, Scott T. Weiss |
| 1240-1246 | Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 | Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin Saar, Franz Rüschendorf, Bettine C. Polak, Sirpa Ala-Mello, Julia Hoefele, Alexander Wiedensohler, Maria Haller, Heymut Omran, Peter Nürnberg, Friedhelm Hildebrandt |
| 1247-1256 | A Combined Analysis of Genomewide Linkage Scans for Body Mass Index, from the National Heart, Lung, and Blood Institute Family Blood Pressure Program | Xiaodong Wu, Richard S. Cooper, Ingrid Borecki, Craig Hanis, Molly Bray, Cora E. Lewis, Xiaofeng Zhu, Donghui Kan, Amy Luke, David Curb |
| 1257-1268 | Generalized T | Momiao Xiong, Jinying Zhao, Eric Boerwinkle |
| 1269-1276 | High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization | Joris A. Veltman, Eric F.P.M. Schoenmakers, Bert H. Eussen, Irene Janssen, Gerard Merkx, Brigitte van Cleef, Conny M. van Ravenswaaij, Han G. Brunner, Dominique Smeets, Ad Geurts van Kessel |
| 1277-1286 | Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 | Ralf Giess, Bettina Holtmann, Massimiliano Braga, Tiemo Grimm, Bertram Müller-Myhsok, Klaus V. Toyka, Michael Sendtner |
| 1287-1298 | Evidence for Linkage and Association with Reading Disability, on 6p21.3-22 | D.E. Kaplan, J. Gayán, J. Ahn, T.-W. Won, D. Pauls, R.K. Olson, J.C. DeFries, F. Wood, B.F. Pennington, G.P. Page, S.D. Smith, J.R. Gruen |
| 1299-1304 | Germline Alterations of the RNASEL | Annika Rökman, Tarja Ikonen, Eija H. Seppälä, Nina Nupponen, Ville Autio, Nina Mononen, Joan Bailey-Wilson, Jeffrey Trent, John Carpten, Mika P. Matikainen, Pasi A. Koivisto, Teuvo L.J. Tammela, Olli-P. Kallioniemi, Johanna Schleutker |
| 1305-1317 | PKHD1, | Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik-Schöneborn, Michael Mrug, William Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay-Woodford, Stefan Somlo, Gregory G. Germino |
| 1318-1327 | FOXP2 | D.F. Newbury, E. Bonora, J.A. Lamb, S.E. Fisher, C.S.L. Lai, G. Baird, L. Jannoun, V. Slonims, C.M. Stott, M.J. Merricks, P.F. Bolton, A.J. Bailey, A.P. Monaco and the International Molecular Genetic Study of Autism Consortium |
| 1328-1332 | Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60 | Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu-Rebeix, Costa Georgopoulos, Debbie Ang, Marit Nyholm Nielsen, Claire-Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen, Peter Bross |
| 1333-1340 | Genome Scans Provide Evidence for Low-HDL-C Loci on Chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish Families | Aino Soro, Päivi Pajukanta, Heidi E. Lilja, Kati Ylitalo, Tero Hiekkalinna, Markus Perola, Rita M. Cantor, Jorma S.A. Viikari, Marja-Riitta Taskinen, Leena Peltonen |
| 1341-1348 | Missense Mutations in GJB2 | Gabriele Richard, Fatima Rouan, Colin E. Willoughby, Nkecha Brown, Pil Chung, Markku Ryynänen, Ethylin Wang Jabs, Sherri J. Bale, John J. DiGiovanna, Jouni Uitto, Laura Russell |
| 1349-1356 | X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8 | Kimberly A. Hahn, Gajja S. Salomons, Darci Tackels-Horne, Tim C. Wood, Harold A. Taylor, Richard J. Schroer, Herbert A. Lubs, Cornelis Jakobs, Rick L. Olson, Kenton R. Holden, Roger E. Stevenson, Charles E. Schwartz |
| 1357-1362 | Common Deletion of SMAD4 | James R. Howe, Jason Shellnut, Brian Wagner, John C. Ringold, Mohamed G. Sayed, Abul F. Ahmed, Patrick M. Lynch, Christopher I. Amos, Pertti Sistonen, Lauri A. Aaltonen |
| 1363-1367 | A Missense Mutation in the LIM2 | Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras |
| 1368-1375 | Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia | Eri Arikawa-Hirasawa, Alexander H. Le, Ichizo Nishino, Ikuya Nonaka, Nicola C. Ho, Clair A. Francomano, Prasanthi Govindraj, John R. Hassell, Joseph M. Devaney, Jürgen Spranger, Roger E. Stevenson, Susan Iannaccone, Marinos C. Dalakas, Yoshihiko Yamada |
| 1376-1377 | Revised 14.7-cM Locus for the Hyperparathyroidism–Jaw Tumor Syndrome Gene, HRPT2 | Maurine R. Hobbs, Irving B. Rosen, Charles E. Jackson |
| 1377-1380 | The Peopling of the Americas: A Second Major Migration? | Eduardo Tarazona-Santos, Fabrício R. Santos |
| 1380-1381 | Reply to Tarazona-Santos and Santos | Jeffrey T. Lell, Rem I. Sukernik, Douglas C. Wallace |
| 1381-1383 | Increased Rate of Twins among Affected Sibling Pairs with Autism | Catalina Betancur, Marion Leboyer, Christopher Gillberg |
| 1384-1387 | Announcements | |
| 1388 | ERRATUM | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1389-1397 | A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution | Arthur L. Beaudet, Yong-hui Jiang |
| 1398-1410 | Systematic Evaluation of Map Quality: Human Chromosome 22 | Tara C. Matise, Christopher J. Porter, Steven Buyske, A. Jamie Cuttichia, Erik P. Sulman, Peter S. White |
| 1411-1420 | Founding Mothers of Jewish Communities: Geographically Separated Jewish Groups Were Independently Founded by Very Few Female Ancestors | Mark G. Thomas, Michael E. Weale, Abigail L. Jones, Martin Richards, Alice Smith, Nicola Redhead, Antonio Torroni, Rosaria Scozzari, Fiona Gratrix, Ayele Tarekegn, James F. Wilson, Cristian Capelli, Neil Bradman, David B. Goldstein |
| 1421-1433 | Unusual Splice-Site Mutations in the RSK2 | Maria Zeniou, Solange Pannetier, Jean-Pierre Fryns, André Hanauer |
| 1434-1445 | Minimum-Recombinant Haplotyping in Pedigrees | Dajun Qian, Lars Beckmann |
| 1446-1458 | Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy | Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloglu, Bernard Echenne, Luciano Merlini, Pascale Guicheney |
| 1459-1468 | A Major Predisposition Locus for Severe Obesity, at 4p15-p14 | Steven Stone, Victor Abkevich, Steven C. Hunt, Alexander Gutin, Deanna L. Russell, Chris D. Neff, Robyn Riley, Georges C. Frech, Charles H. Hensel, Srikanth Jammulapati, Jennifer Potter, David Sexton, Thanh Tran, Drew Gibbs, Diana Iliev, Richard Gress, Brian Bloomquist, John Amatruda, M.M. Peter Rae, D. Ted Adams, et al. | |
| 1469-1479 | Patterns of Meiotic Recombination in Human Fetal Oocytes | Charles Tease, Geraldine M. Hartshorne, Maj A. Hultén |
| 1480-1489 | Power Calculations for Genetic Association Studies Using Estimated Probability Distributions | Nicholas J. Schork |
| 1490-1497 | Genomewide Comparison of DNA Sequences between Humans and Chimpanzees | Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo |
| 1498-1506 | New Mutations of CIAS1 | Catherine Dodé, Nathalie Le Dû, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gérard Vaudour, Alain Meyrier, Richard A Watts, G.I. David Scott, Anne Nicholls, Brigitte Granel, Camille Frances, François Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech, Gilles Grateau |
| 1507-1519 | Stable Variants of Sperm Aneuploidy among Healthy Men Show Associations between Germinal and Somatic Aneuploidy | Jiri Rubes, Miluse Vozdova, Wendie A. Robbins, Olga Rezacova, Sally D. Perreault, Andrew J. Wyrobek |
| 1520-1531 | Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1 | Deyanira Corzo, William Gibson, Kisha Johnson, Grant Mitchell, Guy LePage, Gerald F. Cox, Robin Casey, Carolyn Zeiss, Heidi Tyson, Garry R. Cutting, Gerald V. Raymond, Kirby D. Smith, Paul A. Watkins, Ann B. Moser, Hugo W. Moser, Steven J. Steinberg |
| 1532-1544 | Paternally Transmitted FMR1 | Amy K. Sullivan, Dana C. Crawford, Elizabeth H. Scott, Mary L. Leslie, Stephanie L. Sherman |
| 1545-1554 | A Comprehensive Mutation Analysis of RP2 | Debra K. Breuer, Beverly M. Yashar, Elena Filippova, Suja Hiriyanna, Robert H. Lyons, Alan J. Mears, Bersabell Asaye, Ceren Acar, Raf Vervoort, Alan F. Wright, Maria A. Musarella, Patricia Wheeler, Ian MacDonald, Alessandro Iannaccone, David Birch, Dennis R. Hoffman, Gerald A. Fishman, John R. Heckenlively, Samuel G. Jacobson, Paul A. Sieving, et al. | |
| 1555-1563 | PTPN11 | Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora R. Bertola, Andrew Crosby, Andra Ion, Raju S. Kucherlapati, Steve Jeffery, Michael A. Patton, Bruce D. Gelb |
| 1564-1567 | Krit1 | Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau |
| 1568-1574 | The Gene Encoding Nicastrin, a Major γ-Secretase Component, Modifies Risk for Familial Early-Onset Alzheimer Disease in a Dutch Population-Based Sample | Bart Dermaut, Jessie Theuns, Kristel Sleegers, Hiroshi Hasegawa, Marleen Van den Broeck, Krist'l Vennekens, Ellen Corsmit, Peter St. George-Hyslop, Marc Cruts, Cornelia M. van Duijn, Christine Van Broeckhoven |
| 1575-1581 | Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene | Bruno Copin, Antoine P. Brézin, Françoise Valtot, Jean-Claude Dascotte, Alain Béchetoille, Henri-Jean Garchon |
| 1582-1588 | Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62 | Nancy Laurin, Jacques P. Brown, Jean Morissette, Vincent Raymond |
| 1589-1593 | Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d | S. Ferdinandusse, E.G. van Grunsven, W. Oostheim, S. Denis, E.M. Hogenhout, L. IJlst, C.W.T. van Roermund, H.R. Waterham, S. Goldfischer, R.J.A. Wanders |
| 1594-1596 | Genetic Evidence for the Expansion of Arabian Tribes into the Southern Levant and North Africa | Almut Nebel, Ella Landau-Tasseron, Dvora Filon, Ariella Oppenheim, Marina Faerman |
| 1596-1598 | SMN | Shuji Ogino, Robert B. Wilson |
| 1598-1599 | Reply to Ogino and Wilson | Markus Feldkötter, Verena Schwarzer, Radu Wirth, Thomas F. Wienker, Brunhilde Wirth |
| 1599-1602 | The Power of Multivariate Quantitative-Trait Loci Linkage Analysis Is Influenced by the Correlation between Variables | David M. Evans |
| 1602 | The National Institutes of Health Announces Online Availability of “Points to Consider When Planning a Genetic Study That Involves Members of Named Populations” | Judith H. Greenberg |
| 1603-1604 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1-13 | Splitting p63 | Hans van Bokhoven, Han G. Brunner |
| 14-21 | Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL | S. Marie, V. Race, M.-C. Nassogne, M.-F. Vincent, G. Van den Berghe |
| 22-29 | BBS4 | Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski |
| 30-44 | Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome | Zsolt Urbán, Sheila Riazi, Thomas L. Seidl, Jodi Katahira, Leslie B. Smoot, David Chitayat, Charles D. Boyd, Aleksander Hinek |
| 45-55 | A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21 | Christopher W. Bartlett, Judy F. Flax, Mark W. Logue, Veronica J. Vieland, Anne S. Bassett, Paula Tallal, Linda M. Brzustowicz |
| 56-65 | Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci | Carol J. Etzel, Rudy Guerra |
| 66-73 | A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica | Kun Wang, Bing Zhou, Yien-Ming Kuo, Jason Zemansky, Jane Gitschier |
| 74-83 | CARD15 | Severine Vermeire, Gary Wild, Kerry Kocher, Josee Cousineau, Line Dufresne, Alain Bitton, Diane Langelier, Pierre Pare, Gilles Lapointe, Albert Cohen, Mark J. Daly, John D. Rioux |
| 84-99 | A Global Perspective on Genetic Variation at the ADH | Michael V. Osier, Andrew J. Pakstis, Himla Soodyall, David Comas, David Goldman, Adekunle Odunsi, Friday Okonofua, Josef Parnas, Leslie O. Schulz, Jaume Bertranpetit, Batsheva Bonne-Tamir, Ru-Band Lu, Judith R. Kidd, Kenneth K. Kidd |
| 100-115 | Presence of Large Deletions in Kindreds with Autism | Chang-En Yu, Geraldine Dawson, Jeffrey Munson, Ian D’Souza, Julie Osterling, Annette Estes, Anne-Louise Leutenegger, Pamela Flodman, Moyra Smith, Wendy H. Raskind, M. Anne Spence, William McMahon, Ellen M. Wijsman, Gerard D. Schellenberg |
| 116-123 | Analysis of the RNASEL | Liang Wang, Shannon K. McDonnell, David A. Elkins, Susan L. Slager, Eric Christensen, Angela F. Marks, Julie M. Cunningham, Brett J. Peterson, Steven J. Jacobsen, James R. Cerhan, Michael L. Blute, Daniel J. Schaid, Stephen N. Thibodeau |
| 124-135 | Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin | Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Alice Rudolph, Cliff Shults, P. Michael Conneally, Tatiana Foroud and the Parkinson Study Group |
| 136-142 | Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain | Andrew P. Jackson, Helen Eastwood, Sandra M. Bell, Jimi Adu, Carmel Toomes, Ian M. Carr, Emma Roberts, Daniel J. Hampshire, Yanick J. Crow, Alan J. Mighell, Gulshan Karbani, Hussain Jafri, Yasmin Rashid, Robert F. Mueller, Alexander F. Markham, C. Geoffrey Woods |
| 143-153 | Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR | David Watkins, Ming Ru, Hye-Yeon Hwang, Caroline D. Kim, Angus Murray, Noah S. Philip, William Kim, Helen Legakis, Timothy Wai, John F. Hilton, Bing Ge, Carole Doré, Angela Hosack, Aaron Wilson, Roy A. Gravel, Barry Shane, Thomas J. Hudson, David S. Rosenblatt |
| 154-161 | A Second Locus for Very-Late-Onset Alzheimer Disease: A Genome Scan Reveals Linkage to 20p and Epistasis between 20p and the Amyloid Precursor Protein Region | Jane M. Olson, Katrina A.B. Goddard, Doreen M. Dudek |
| 162-164 | Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects | Gerald F. Cox, Joachim Bürger, Va Lip, Ulrike A. Mau, Karl Sperling, Bai-Lin Wu, Bernhard Horsthemke |
| 165-167 | Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome | Lisa L. Wang, Kim Worley, Anu Gannavarapu, Murali M. Chintagumpala, Moise L. Levy, Sharon E. Plon |
| 168-173 | Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders | Robert M. Plenge, Roger A. Stevenson, Herbert A. Lubs, Charles E. Schwartz, Huntington F. Willard |
| 174-179 | A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 | Martina Klutz, Dieter Brockmann, Dietmar R. Lohmann |
| 180-186 | Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1 | C. Le Caignec, M. Lefevre, J.J. Schott, A. Chaventre, M. Gayet, C. Calais, J.P. Moisan |
| 187-192 | Mitochondrial Genome Diversity of Native Americans Supports a Single Early Entry of Founder Populations into America | Wilson A. Silva, Sandro L. Bonatto, Adriano J. Holanda, Andrea K. Ribeiro-dos-Santos, Beatriz M. Paixão, Gustavo H. Goldman, Kiyoko Abe-Sandes, Luis Rodriguez-Delfin, Marcela Barbosa, Maria Luiza Paçó-Larson, Maria Luiza Petzl-Erler, Valeria Valente, Sidney E.B. Santos, Marco A. Zago |
| 193-197 | Parental Genotypes in the Risk of a Complex Disease | Damian Labuda, Maja Krajinovic, Audrey Sabbagh, Claire Infante-Rivard, Daniel Sinnett |
| 198-203 | Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, | Jérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer, Geneviève de Saint Basile |
| 204-205 | Refined Mapping of Suggestive Linkage to Renal Function in African Americans: The HyperGEN Study | Andrew T. DeWan, Donna K. Arnett, Michael B. Miller, James M. Peacock, Larry D. Atwood, Michael A. Province, Cora E. Lewis, Steven C. Hunt, John H. Eckfeldt |
| 205-208 | Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q | Norman Kock, Biljana Culjkovic, Susanna Maniak, Karla Schilling, Birgitt Müller, Christine Zühlke, Laurie Ozelius, Christine Klein, Peter P. Pramstaller, Patricia L. Kramer |
| 208 | Reply to Kock et al. | A. Desautels, G. Turecki, J. Montplaisir, G.A. Rouleau |
| 209-210 | Genetic Dissection of Complex Traits | Alexandre A. Todorov |
| 211-214 | Announcements | |
| 215 | Erratum | |
| 215 | Erratum | |
| 215 | Erratum | |
| 215 | Erratum | |
| 215 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 217-222 | Regression-Based Quantitative-Trait–Locus Mapping in the 21st Century | Eleanor Feingold |
| 223-237 | Premature Termination Mutations in FBN1: | Iris Schrijver, Wanguo Liu, Raanan Odom, Thomas Brenn, Peter Oefner, Heinz Furthmayr, Uta Francke |
| 238-253 | Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees | Pak C. Sham, Shaun Purcell, Stacey S. Cherny, Gonçalo R. Abecasis |
| 254-261 | Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes | Qinghua Shi, Elizabeth Spriggs, L. Leigh Field, Alfred Rademaker, Evelyn Ko, Leona Barclay, Renée H. Martin |
| 262-275 | CDH23 | L.M. Astuto, J.M. Bork, M.D. Weston, J.W. Askew, R.R. Fields, D.J. Orten, S.J. Ohliger, S. Riazuddin, R.J. Morell, S. Khan, S. Riazuddin, H. Kremer, P. van Hauwe, C.G. Moller, C. W.R.J. Cremers, C. Ayuso, J.R. Heckenlively, K. Rohrschneider, U. Spandau, J. Greenberg, et al. | |
| 276-285 | Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation | Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato, Giorgio Gimelli, Silvia Camanini, Roberto Giorda, Angela Ragusa, Silvana Guerneri, Angelo Selicorni, Marcus Stumm, Holger Tonnies, Mario Ventura, Marcella Zollino, Giovanni Neri, John Barber, Dagmar Wieczorek, Mariano Rocchi, Orsetta Zuffardi |
| 286-293 | Species Differences in TSIX/Tsix | Barbara R. Migeon, Catherine H. Lee, Ashis K. Chowdhury, Heather Carpenter |
| 294-303 | Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping | Timothy W. Hefferon, Fiona C. Broackes-Carter, Ann Harris, Garry R. Cutting |
| 304-311 | Testing for Population Subdivision and Association in Four Case-Control Studies | Kristin G. Ardlie, Kathryn L. Lunetta, Mark Seielstad |
| 312-326 | A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements | Jeremy S. Myers, Bethaney J. Vincent, Hunt Udall, W. Scott Watkins, Tammy A. Morrish, Gail E. Kilroy, Gary D. Swergold, Jurgen Henke, Lotte Henke, John V. Moran, Lynn B. Jorde, Mark A. Batzer |
| 327-336 | Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I | Brook Brouha, Christof Meischl, Eric Ostertag, Martin de Boer, Yue Zhang, Herman Neijens, Dirk Roos, Haig H. Kazazian |
| 337-348 | Genetic Variation in the 6p22.3 Gene DTNBP1, | Richard E. Straub, Yuxin Jiang, Charles J. MacLean, Yunlong Ma, Bradley T. Webb, Maxim V. Myakishev, Carole Harris-Kerr, Brandon Wormley, Hannah Sadek, Bharat Kadambi, Anthony J. Cesare, Avi Gibberman, Xu Wang, F. Anthony O'Neill, Dermot Walsh, Kenneth S. Kendler |
| 349-364 | Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families | Mary L. Marazita, L. Leigh Field, Margaret E. Cooper, Rose Tobias, Brion S. Maher, Supakit Peanchitlertkajorn, You-e Liu |
| 365-374 | Comprehensive Detection of Genomic Duplications and Deletions in the DMD | Stefan White, Margot Kalf, Qiang Liu, Michel Villerius, Dieuwke Engelsma, Marjolein Kriek, Ellen Vollebregt, Bert Bakker, Gert-Jan B. van Ommen, Martijn H. Breuning, Johan T. den Dunnen |
| 375-388 | Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17 | Hildegard Kehrer-Sawatzki, Bettina Schreiner, Simone Tänzer, Matthias Platzer, Stefan Müller, Horst Hameister |
| 389-394 | Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 | Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola |
| 395-400 | Genetic Isolates in East Asia: A Study of Linkage Disequilibrium in the X Chromosome | T. Katoh, S. Mano, T. Ikuta, B. Munkhbat, K. Tounai, H. Ando, N. Munkhtuvshin, T. Imanishi, H. Inoko, G. Tamiya |
| 401-406 | A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3 | Vivian Chan, Gardian C.Y. Fong, Keith D.K. Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D.S. Lu, Tai-Kwong Chan |
| 407-414 | Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A | Yair Anikster, Marjan Huizing, Paul D. Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross-Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz |
| 415-421 | Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia | Olga A. Derbeneva, Rem I. Sukernik, Natalia V. Volodko, Seyed H. Hosseini, Marie T. Lott, Douglas C. Wallace |
| 422-425 | Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 | Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson, Bernd Wissinger |
| 426-431 | Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA | Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, Anne Helbling-Leclerc, Maria Rosaria D’Apice, Catherine Massart, Francesca Capon, Paolo Sbraccia, Massimo Federici, Renato Lauro, Cosimo Tudisco, Rosanna Pallotta, Gioacchino Scarano, Bruno Dallapiccola, Luciano Merlini, Gisèle Bonne |
| 432-438 | A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer | Pia Vahteristo, Jirina Bartkova, Hannaleena Eerola, Kirsi Syrjäkoski, Salla Ojala, Outi Kilpivaara, Anitta Tamminen, Juha Kononen, Kristiina Aittomäki, Päivi Heikkilä, Kaija Holli, Carl Blomqvist, Jiri Bartek, Olli-P. Kallioniemi, Heli Nevanlinna |
| 439-441 | A Note on the Calculation of Empirical P | B.V. North, D. Curtis, P.C. Sham |
| 441-442 | Response to Epstein et al. | Paul R. Burton, Lyle J. Palmer, Kevin J. Keen, Jane M. Olson, Robert C. Elston |
| 443-444 | SNPs at the 3′ End of the Angiotensinogen Gene Define Two Haplotypes Associated with the Common 235Met Variant | S. Plummer, L. Morgan, N. Kalsheker |
| 445-447 | Announcements | |
| 448 | Erratum | |
| 448 | Erratum | |
| 449 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 451-465 | Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 | Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, Helga Toriello, Lynne T. Smith, Peter H. Byers, Daniel S. Greenspan |
| 466-482 | A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia | Tatiana Zerjal, R. Spencer Wells, Nadira Yuldasheva, Ruslan Ruzibakiev, Chris Tyler-Smith |
| 483-491 | A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24 | Hakon Hakonarson, Unnur S. Bjornsdottir, Eva Halapi, Snaebjorn Palsson, Elva Adalsteinsdottir, David Gislason, Gudmundur Finnbogason, Thorarinn Gislason, Kristleifur Kristjansson, Thor Arnason, Illugi Birkisson, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, Kari Stefansson |
| 492-500 | Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, | Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, Jaakko Sarparanta, Jerome de Seze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd |
| 501-517 | Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism | Jari H. Stengård, Andrew G. Clark, Kenneth M. Weiss, Sharon Kardia, Deborah A. Nickerson, Veikko Salomaa, Christian Ehnholm, Eric Boerwinkle, Charles F. Sing |
| 518-527 | Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene | Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, Matteo di Capua, Enrico Bertini, Odile Boespflug-Tanguy |
| 528-542 | DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 | S.P. Wooding, W.S. Watkins, M.J. Bamshad, D.M. Dunn, R.B. Weiss, L.B. Jorde |
| 543-553 | Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus | Robert R. Graham, Ward A. Ortmann, Carl D. Langefeld, Damini Jawaheer, Scott A. Selby, Peter R. Rodine, Emily C. Baechler, Kristine E. Rohlf, Katherine B. Shark, Karl J. Espe, Linda E. Green, Rajan P. Nair, Philip E. Stuart, James T. Elder, Richard A. King, Kathy L. Moser, Patrick M. Gaffney, Teodorica L. Bugawan, Henry A. Erlich, Stephen S. Rich, et al. | |
| 554-564 | Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism–Based Map Defines Genetic Variation at PSORS1, | Colin D. Veal, Francesca Capon, Michael H. Allen, Emma K. Heath, Julie C. Evans, Andrew Jones, Shanta Patel, David Burden, David Tillman, Jonathan N.W.N. Barker, Richard C. Trembath |
| 565-574 | Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate | Roel A. Ophoff, Michael A. Escamilla, Susan K. Service, Mitzi Spesny, Dar B. Meshi, Wingman Poon, Julio Molina, Eduardo Fournier, Alvaro Gallegos, Carol Mathews, Thomas Neylan, Steven L. Batki, Erin Roche, Margarita Ramirez, Sandra Silva, Melissa C. De Mille, Penny Dong, Pedro E. Leon, Victor I. Reus, Lodewijk A. Sandkuijl, et al. | |
| 575-584 | Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits | Christoph Lange, Nan M. Laird |
| 585-594 | Dissecting the Genetic Complexity of the Association between Human Leukocyte Antigens and Rheumatoid Arthritis | Damini Jawaheer, Wentian Li, Robert R. Graham, Wei Chen, Aarti Damle, Xiangli Xiao, Joanita Monteiro, Houman Khalili, Annette Lee, Robert Lundsten, Ann Begovich, Teodorica Bugawan, Henry Erlich, James T. Elder, Lindsey A. Criswell, Michael F. Seldin, Christopher I. Amos, Timothy W. Behrens, Peter K. Gregersen |
| 595-606 | Contribution of BRCA1 | Alexander Liede, Imtiaz A. Malik, Zeba Aziz, Patricia de los Rios, Elaine Kwan, Steven A. Narod |
| 607-617 | Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations | Randall R. Fields, Guimei Zhou, Dali Huang, Jack R. Davis, Claes Möller, Samuel G. Jacobson, William J. Kimberling, Janos Sumegi |
| 618-624 | Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, | David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance |
| 625-631 | BRCA2 | James D. Fackenthal, Luca Cartegni, Adrian R. Krainer, Olufunmilayo I. Olopade |
| 632-636 | Mutations in a Novel Gene, TMIE, | Sadaf Naz, Chantal M. Giguere, David C. Kohrman, Kristina L. Mitchem, Saima Riazuddin, Robert J. Morell, Arabandi Ramesh, Srikumari Srisailpathy, Dilip Deshmukh, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Richard J.H. Smith, Edward R. Wilcox |
| 637-645 | The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation | Fumiko Saito-Ohara, Yoji Fukuda, Masahiro Ito, Kishan Lal Agarwala, Masaharu Hayashi, Masafumi Matsuo, Issei Imoto, Kazuhiro Yamakawa, Yusuke Nakamura, Johji Inazawa |
| 646-650 | Major Recessive Gene(s) with Considerable Residual Polygenic Effect Regulating Adult Height: Confirmation of Genomewide Scan Results for Chromosomes 6, 9, and 12 | Jianfeng Xu, Eugene R. Bleecker, Hajo Jongepier, Timothy D. Howard, Gerard H. Koppelman, Dirkje S. Postma, Deborah A. Meyers |
| 651-655 | The Brain-Derived Neurotrophic Factor Gene Confers Susceptibility to Bipolar Disorder: Evidence from a Family-Based Association Study | Maria Neves-Pereira, Emanuela Mundo, Pierandrea Muglia, Nicole King, Fabio Macciardi, James L. Kennedy |
| 656-662 | Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype | Juha Paloneva, Tuula Manninen, Grant Christman, Karine Hovanes, Jami Mandelin, Rolf Adolfsson, Marino Bianchin, Thomas Bird, Roxana Miranda, Andrea Salmaggi, Lisbeth Tranebjærg, Yrjö Konttinen, Leena Peltonen |
| 663-668 | KCNJ2 | Gregor Andelfinger, Andrew R. Tapper, Richard C. Welch, Carlos G. Vanoye, Alfred L. George, D. Woodrow Benson |
| 669-678 | Evidence for the Role of PWCR1/HBII-85 | Renata C. Gallagher, Birgit Pils, Mohammed Albalwi, Uta Francke |
| 679-683 | Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome | Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, Kurenai Tanji, Eduardo Bonilla, Carolyn Sue, Sindu Krishna, Jose R. Carlo, Judith Willner, Eric A. Schon, Salvatore DiMauro |
| 684-685 | Theoretical Considerations Regarding the Study “Alpha-B Crystallin Gene (CRYAB | Siiri Veromann |
| 685-686 | Reply to Veromann | Vanita Berry, Peter Francis, M. Ashwin Reddy, Dean Collyer, Eranga Vithana, Ian MacKay, Gary Dawson, Alisoun H. Carey, Anthony Moore, Shomi S. Bhattacharya, Roy A. Quinlan |
| 687 | London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM | Harold N. Bass |
| 687-688 | Disorders of Voluntary Muscle | Francesco Muntoni |
| 689-692 | Announcements | |
| 693 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 695-714 | Neocentromeres: Role in Human Disease, Evolution, and Centromere Study | David J. Amor, K.H. Andy Choo |
| 715-723 | Predictors of the Risk of Mortality in Neurofibromatosis 2 | Michael E. Baser, J.M. Friedman, Dana Aeschliman, Harry Joe, Andrew J. Wallace, Richard T. Ramsden, D. Gareth R. Evans |
| 724-738 | Functional Analysis of RUNX2 | Taketoshi Yoshida, Hirokazu Kanegane, Motomi Osato, Masatoshi Yanagida, Toshio Miyawaki, Yoshiaki Ito, Katsuya Shigesada |
| 739-749 | Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies | Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jean-Jacques Martin, Francesco Muntoni, Thomas Voit, Brigitte Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney |
| 750-758 | Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 | Sandra L. Dabora, Penelope Roberts, Andres Nieto, Ron Perez, Sergiusz Jozwiak, David Franz, John Bissler, Elizabeth A. Thiele, Katherine Sims, David J. Kwiatkowski |
| 759-776 | High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex | Michael Cullen, Stephen P. Perfetto, William Klitz, George Nelson, Mary Carrington |
| 777-790 | A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27 | Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin Ayers, Elli Kempas, Tero Ylisaukko-oja, Janet S. Sinsheimer, Leena Peltonen, Irma Järvelä |
| 791-800 | Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia | Jason A. Watts, Michael Morley, Joshua T. Burdick, Jennifer L. Fiori, Warren J. Ewens, Richard S. Spielman, Vivian G. Cheung |
| 801-809 | Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine | Yuri E. Dubrova, Gemma Grant, Anatoliy A. Chumak, Vasyl A. Stezhka, Angela N. Karakasian |
| 810-822 | Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 | Erwin K. Chung, Yan Yang, Kristi L. Rupert, Karla N. Jones, Robert M. Rennebohm, Carol A. Blanchong, C. Yung Yu |
| 823-837 | Genetic Sophistication of Human Complement Components C4A | Erwin K. Chung, Yan Yang, Robert M. Rennebohm, Marja-Liisa Lokki, Gloria C. Higgins, Karla N. Jones, Bi Zhou, Carol A. Blanchong, C. Yung Yu |
| 838-853 | Genomic Rearrangements Resulting in PLP1 | Ken Inoue, Hitoshi Osaka, Virginia C. Thurston, Joe T.R. Clarke, Akira Yoneyama, Lisa Rosenbarker, Thomas D. Bird, M.E. Hodes, Lisa G. Shaffer, James R. Lupski |
| 854-862 | Human Diallelic Insertion/Deletion Polymorphisms | James L. Weber, Donna David, Jeremy Heil, Ying Fan, Chengfeng Zhao, Gabor Marth |
| 863-876 | GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L | Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena Peltonen |
| 877-892 | Neuregulin 1 | Hreinn Stefansson, Hannes Petursson, Engilbert Sigurdsson, Valgerdur Steinthorsdottir, Soley Bjornsdottir, Thordur Sigmundsson, Shyamali Ghosh, Jon Brynjolfsson, Steinunn Gunnarsdottir, Omar Ivarsson, Thomas T. Chou, Omar Hjaltason, Birgitta Birgisdottir, Helgi Jonsson, Vala G. Gudnadottir, Elsa Gudmundsdottir, Asgeir Bjornsson, Brynjolfur Ingvarsson, Andres Ingason, Sigmundur Sigfusson, et al. | |
| 893-905 | A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search | Andrea Angius, Enrico Petretto, Giovanni Battista Maestrale, Paola Forabosco, Giuseppina Casu, Daniela Piras, Manuela Fanciulli, Mario Falchi, Paola Maria Melis, Mario Palermo, Mario Pirastu |
| 906-922 | Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure | Sjoerd Repping, Helen Skaletsky, Julian Lange, Sherman Silber, Fulco van der Veen, Robert D. Oates, David C. Page, Steve Rozen |
| 923-932 | Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 | Bradford Coffee, Fuping Zhang, Stephanie Ceman, Stephen T. Warren, Daniel Reines |
| 933-940 | Mutations in ANKH | Adrian Pendleton, Michelle D. Johnson, Anne Hughes, Kyle A. Gurley, Andrew M. Ho, Michael Doherty, Josh Dixey, Pierre Gillet, Damien Loeuille, Rodney McGrath, Antonio Reginato, Rita Shiang, Gary Wright, Patrick Netter, Charlene Williams, David M. Kingsley |
| 941-946 | On the Twin Risk in Autism | Joachim Hallmayer, Emma J. Glasson, Carol Bower, Beverly Petterson, Lisa Croen, Judith Grether, Neil Risch |
| 947-951 | Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12 | Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn |
| 952-958 | Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase | Nicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti |
| 959-963 | Genetic Linkage of Attention-Deficit/Hyperactivity Disorder on Chromosome 16p13, in a Region Implicated in Autism | Susan L. Smalley, Vlad Kustanovich, Sonia L. Minassian, Jennifer L. Stone, Matthew N. Ogdie, James J. McGough, James T. McCracken, I. Laurence MacPhie, Clyde Francks, Simon E. Fisher, Rita M. Cantor, Anthony P. Monaco, Stanley F. Nelson |
| 964-968 | SPINK1 | Zahid Hassan, Viswananthan Mohan, Liaquat Ali, Rebecca Allotey, Khalid Barakat, M. Omar Faruque, Raj Deepa, Michael F. McDermott, Alan E. Jackson, Paul Cassell, David Curtis, Susan V. Gelding, Shanti Vijayaravaghan, Niklaus Gyr, David C. Whitcomb, A.K. Azad Khan, Graham A. Hitman |
| 969-974 | A Rare Haplotype of the RET | Paola Griseri, Barbara Pesce, Giovanna Patrone, Jan Osinga, Francesca Puppo, Monica Sancandi, Robert Hofstra, Giovanni Romeo, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini |
| 975-980 | The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 | Nazneen Rahman, Melanie Dunstan, M. Dawn Teare, Sandra Hanks, Sarah J. Edkins, Jaime Hughes, Graham R. Bignell, Grazia Mancini, Wim Kleijer, Mary Campbell, Gokhan Keser, Carol Black, Nigel Williams, Laura Arbour, Matthew Warman, Andrea Superti-Furga, P. Andrew Futreal, F. Michael Pope |
| 981-984 | A Novel Founder Mutation in the RNASEL | Hanna Rennert, Dani Bercovich, Ayala Hubert, Dvora Abeliovich, Uri Rozovsky, Anat Bar-Shira, Sonya Soloviov, Letizia Schreiber, Haim Matzkin, Gad Rennert, Luna Kadouri, Tamar Peretz, Yuval Yaron, Avi Orr-Urtreger |
| 985-991 | Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH | Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham G. Russell, B. Paul Wordsworth, Andrew J. Carr, Matthew A. Brown |
| 992-995 | Caution on Pedigree Haplotype Inference with Software That Assumes Linkage Equilibrium | Daniel J. Schaid, Shannon K. McDonnell, Liang Wang, Julie M. Cunningham, Stephen N. Thibodeau |
| 995-996 | Increased Rate of Twins among Affected Sib Pairs | Peter M. Visscher |
| 996-999 | Response to Visscher | Susan E. Hodge, David A. Greenberg, Catalina Betancur, Christopher Gillberg |
| 1000 | Quantitative Trait Loci: Methods and Protocols | Jill Barnholtz-Sloan |
| 1000-1001 | What it Means to Be 98% Chimpanzee: Apes, People, and Their Genes | Lorena Madrigal |
| 1002-1006 | Announcements | |
| 1007 | Erratum | |
| 1007 | Erratum | |
| 1007 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Beauregard |
| 1009-1016 | Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia | Andrew H. Crosby, Christos Proukakis |
| 1017-1032 | Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly | Jeffrey E. Ming, Maximilian Muenke |
| 1033-1043 | Mutations in the O-Mannosyltransferase Gene POMT1 | Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner |
| 1044-1050 | Genomewide Linkage Analysis of Body Mass Index across 28 Years of the Framingham Heart Study | Larry D. Atwood, Nancy L. Heard-Costa, L. Adrienne Cupples, Cashell E. Jaquish, Peter W.F. Wilson, Ralph B. D’Agostino |
| 1051-1059 | The DNA-Based Structure of Human Chromosome 5 in Interphase | Johannes Lemke, Jan Claussen, Susanne Michel, Ilse Chudoba, Peter Mühlig, Martin Westermann, Karl Sperling, Nikolai Rubtsov, Ulrich-Walter Grummt, Peter Ullmann, Katrin Kromeyer-Hauschild, Thomas Liehr, Uwe Claussen |
| 1060-1071 | A Major Susceptibility Locus for Systemic Lupus Erythemathosus Maps to Chromosome 1q31 | Bo Johanneson, Guadalupe Lima, Jenny von Salomé, Donato Alarcón-Segovia The Collaborative Group on the Genetics of SLE, The BIOMED II Collaboration on the Genetics of SLE and Sjögrens Syndrome, Marta E. Alarcón-Riquelme |
| 1072-1081 | Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2 | Christine J. Shaw, Weimin Bi, James R. Lupski |
| 1082-1111 | The Making of the African mtDNA Landscape | Antonio Salas, Martin Richards, Tomás De la Fe, María-Victoria Lareu, Beatriz Sobrino, Paula Sánchez-Diz, Vincent Macaulay, Ángel Carracedo |
| 1112-1128 | Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD | Brian C. Verrelli, John H. McDonald, George Argyropoulos, Giovanni Destro-Bisol, Alain Froment, Anthi Drousiotou, Gerard Lefranc, Ahmed N. Helal, Jacques Loiselet, Sarah A. Tishkoff |
| 1129-1137 | Haplotype Inference in Random Population Samples | Shin Lin, David J. Cutler, Michael E. Zwick, Aravinda Chakravarti |
| 1138-1149 | Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia | John A. Crolla, Veronica van Heyningen |
| 1150-1160 | The Fingerprint of Phantom Mutations in Mitochondrial DNA Data | Hans-Jürgen Bandelt, Lluís Quintana-Murci, Antonio Salas, Vincent Macaulay |
| 1161-1167 | A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution | Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T.F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Friedhelm Hildebrandt |
| 1168-1174 | In Search of Geographical Patterns in European Mitochondrial DNA | Martin Richards, Vincent Macaulay, Antonio Torroni, Hans-Jürgen Bandelt |
| 1175-1182 | Evaluating the Results of Genomewide Linkage Scans of Complex Traits by Locus Counting | Steven Wiltshire, Lon R. Cardon, Mark I. McCarthy |
| 1183-1188 | Upward Bias in Estimation of Genetic Effects | D. Siegmund |
| 1189-1194 | A Kinesin Heavy Chain (KIF5A | Evan Reid, Mark Kloos, Allison Ashley-Koch, Lori Hughes, Simon Bevan, Ingrid K. Svenson, Felicia Lennon Graham, Perry C. Gaskell, Andrew Dearlove, Margaret A. Pericak-Vance, David C. Rubinsztein, Douglas A. Marchuk |
| 1195-1199 | Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, | Raidah Al-Baradie, Koki Yamada, Cynthia St. Hilaire, Wai-Man Chan, Caroline Andrews, Nathalie McIntosh, Motoi Nakano, E. Jean Martonyi, William R. Raymond, Sada Okumura, Michael M. Okihiro, Elizabeth C. Engle |
| 1200-1206 | Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy | Alessandra Rampazzo, Andrea Nava, Sandro Malacrida, Giorgia Beffagna, Barbara Bauce, Valeria Rossi, Rosanna Zimbello, Barbara Simionati, Cristina Basso, Gaetano Thiene, Jeffrey A. Towbin, Gian A. Danieli |
| 1207-1215 | A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group | Lawrence C. Brody, Mary Conley, Christopher Cox, Peadar N. Kirke, Mary P. McKeever, James L. Mills, Anne M. Molloy, Valerie B. O’Leary, Anne Parle-McDermott, John M. Scott, Deborah A. Swanson |
| 1216-1221 | A Nonsense Mutation in CRYBB1 | Donna S. Mackay, Olivera B. Boskovska, Harry L.S. Knopf, Kirsten J. Lampi, Alan Shiels |
| 1222-1226 | Maternal Genetic Effects, Exerted by Genes Involved in Homocysteine Remethylation, Influence the Risk of Spina Bifida | Marie-Therese Doolin, Sandrine Barbaux, Maeve McDonnell, Katy Hoess, Alexander S. Whitehead, Laura E. Mitchell |
| 1227-1234 | Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: The Interplay of Population History, Recombination, and Mutation | Ning Wang, Joshua M. Akey, Kun Zhang, Ranajit Chakraborty, Li Jin |
| 1235-1236 | Using All Alleles in the Multiallelic Versions of the SDT and Combined SDT/TDT | Wendy Czika, Jack J. Berry |
| 1237-1238 | Griscelli Syndrome Types 1 and 2 | Gaël Ménasché, Alain Fischer, Geneviève de Saint Basile |
| 1238 | Reply to Ménasché et al. | Marjan Huizing, Y. Anikster, W.A. Gahl |
| 1238-1239 | Family-Based Association Tests Incorporating Parental Genotypes | Peter Kraft, Melissa Wilson |
| 1239-1240 | Regarding “Parental Genotypes in the Risk of a Complex Disease” | Clarice R. Weinberg, Laura Mitchell |
| 1240-1242 | Reply to Comments by Kraft and Wilson and by Weinberg and Mitchell on “Parental Genotypes in the Risk of a Complex Disease” | Damian Labuda, Maja Krajinovic, Audrey Sabbagh, Claire Infante-Rivard, Daniel Sinnett |
| 1242-1247 | Partition-Ligation–Expectation-Maximization Algorithm for Haplotype Inference with Single-Nucleotide Polymorphisms | Zhaohui S. Qin, Tianhua Niu, Jun S. Liu |
| 1247-1250 | Alcohol Dehydrogenase and Alcohol Dependence: Variation in Genotype-Associated Risk between Populations | John B. Whitfield |
| 1250-1251 | Reply to Whitfield | Kenneth K. Kidd, Michael V. Osier, Andrew J. Pakstis, Judith R. Kidd |
| 1251-1252 | Detecting Polymorphisms and Mutations in Candidate Genes | Julianne S. Collins, Charles E. Schwartz |
| 1253-1255 | Genetic, Linguistic and Archaeological Perspectives on Human Diversity in Southeast Asia | Lluís Quintana-Murci |
| 1255 | RNA Binding Proteins: New Concepts in Gene Regulation | Dean J. Danner |
| 1256-1257 | Announcements | |
| 1258 | Erratum | |
| 1258 | Erratum | |
| 1258 | Erratum | |
| 1258 | Erratum | |
| i-vi | Editorial Reviewers for 2002 | |
| vii-viii | This Month in the Journal | Kathryn Beauregard |
| 1259-1272 | Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function | Mona D. Shahbazian, Huda Y. Zoghbi |
| 1273-1284 | Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans | John D.H. Stead, Alec J. Jeffreys |
| 1285-1295 | Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome | Pilar Sánchez-Corral, David Pérez-Caballero, Olatz Huarte, Ari M. Simckes, Elena Goicoechea, Margarita López-Trascasa, Santiago Rodríguez de Córdoba |
| 1296-1302 | A Highly Significant Association between a COMT Haplotype and Schizophrenia | Sagiv Shifman, Michal Bronstein, Meira Sternfeld, Anne Pisanté-Shalom, Efrat Lev-Lehman, Avraham Weizman, Ilya Reznik, Baruch Spivak, Nimrod Grisaru, Leon Karp, Richard Schiffer, Moshe Kotler, Rael D. Strous, Marnina Swartz-Vanetik, Haim Y. Knobler, Eilat Shinar, Jacques S. Beckmann, Benjamin Yakir, Neil Risch, Naomi B. Zak, et al. | |
| 1303-1311 | Evidence That Paternal Expression of the ε-Sarcoglycan | Birgitt Müller, Katja Hedrich, Norman Kock, Natasa Dragasevic, Marina Svetel, Jennifer Garrels, Olfert Landt, Matthias Nitschke, Peter P. Pramstaller, Wolf Reik, Eberhard Schwinger, Jürgen Sperner, Laurie Ozelius, Vladimir Kostic, Christine Klein |
| 1312-1319 | RHD | Christina G.S. Palmer, Joni A. Turunen, Janet S. Sinsheimer, Sonia Minassian, Tiina Paunio, Jouko Lönnqvist, Leena Peltonen, J. Arthur Woodward |
| 1320-1329 | Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome | O.T. Suzuki, A.L. Sertié, V.M. Der Kaloustian, F. Kok, M. Carpenter, J. Murray, A.E. Czeizel, S.E. Kliemann, S. Rosemberg, M. Monteiro, B.R. Olsen, M.R. Passos-Bueno |
| 1330-1341 | Power and Design Considerations for a General Class of Family-Based Association Tests: Quantitative Traits | Christoph Lange, Dawn L. DeMeo, Nan M. Laird |
| 1342-1352 | Direct Detection of Insertion/Deletion Polymorphisms in an Autosomal Region by Analyzing High-Density Markers in Individual Spermatozoa | Sreemanta Pramanik, Honghua Li |
| 1353-1368 | Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting | Lutz Froenicke, Lorinda K. Anderson, Johannes Wienberg, Terry Ashley |
| 1369-1385 | Multiplex Relative Risk and Estimation of the Number of Loci Underlying an Inherited Disease | Paul Schliekelman, Montgomery Slatkin |
| 1386-1394 | Haplotype Block Structure and Its Applications to Association Studies: Power and Study Designs | Kui Zhang, Peter Calabrese, Magnus Nordborg, Fengzhu Sun |
| 1395-1412 | The Founder Mutation MSH2*1906G→C | W.D. Foulkes, I. Thiffault, S.B. Gruber, M. Horwitz, N. Hamel, C. Lee, J. Shia, A. Markowitz, A. Figer, E. Friedman, D. Farber, C. M.T. Greenwood, J.D. Bonner, K. Nafa, T. Walsh, V. Marcus, L. Tomsho, J. Gebert, F.A. Macrae, C.L. Gaff, et al. | |
| 1413-1419 | The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations | Calogera M. Simonaro, Robert J. Desnick, Margaret M. McGovern, Melissa P. Wasserstein, Edward H. Schuchman |
| 1420-1427 | The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization | Sharon F. Suchy, Robert L. Nussbaum |
| 1428-1432 | myotilin | Michael A. Hauser, Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, Alberto L. Rosa |
| 1433-1442 | Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A | Lionel Groussin, Lawrence S. Kirschner, Caroline Vincent-Dejean, Karine Perlemoine, Eric Jullian, Brigitte Delemer, Sabina Zacharieva, Duarte Pignatelli, J. Aidan Carney, Jean Pierre Luton, Xavier Bertagna, Constantine A. Stratakis, Jérôme Bertherat |
| 1443-1449 | A Missense Mutation (R565W) in Cirhin | Pierre Chagnon, Jacques Michaud, Grant Mitchell, Jocelyne Mercier, Jean-François Marion, Eric Drouin, Andrée Rasquin-Weber, Thomas J. Hudson, Andrea Richter |
| 1450-1455 | Transcription Factor SOX3 | Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel, Paul Thomas, James Lespinasse, Martine Raynaud, Christine Paringaux, Hans van Bokhoven, Vera Kalscheuer, Jean-Pierre Fryns, Jamel Chelly, Claude Moraine, Sylvain Briault |
| 1456-1462 | Parental Origin and Timing of De Novo Robertsonian Translocation Formation | Ruma Bandyopadhyay, Anita Heller, Cami Knox-DuBois, Christopher McCaskill, Sue Ann Berend, Scott L. Page, Lisa G. Shaffer |
| 1463-1466 | 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH | Lodewijk IJlst, Ference J. Loupatty, Jos P.N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J.A. Wanders |
| 1467-1474 | Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 | Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna Shalev, Tal Eidelitz-Markus, Joseph Kapelushnik, Daniel Cattan, Alexandre Pariente, Michel Tulliez, Aurore Crétien, Pierre-Olivier Schischmanoff, Achille Iolascon, Eithan Fibach, Ariel Koren, Jochen Rössler, Martine Le Merrer, Isaac Yaniv, Rina Zaizov, et al. | |
| 1475-1478 | Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 | Nicola J. Camp, Sean V. Tavtigian |
| 1478-1480 | Regarding “Testing for Population Subdivision and Association in Four Case-Control Studies” | James S. Pankow, Michael A. Province, Steven C. Hunt, Donna K. Arnett |
| 1480-1482 | The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies | Dominique Ducroq, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Fabienne Barbet, Sylvain Hanein, Selim Hakiki, Jean-Louis Dufier, Arnold Munnich, Christian Hamel, Josseline Kaplan |
| 1483-1484 | A Biologist’s Guide to Analysis of DNA Microarray Data | Harriet Feilotter |
| 1484-1485 | Mapping Human History: Discovering the Past through Our Genes | Lynn Jorde |
| 1486-1488 | Announcements | |
| 1489 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-12 | Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 | Stephen M. Edwards, Zsofia Kote-Jarai, Julia Meitz, Rifat Hamoudi, Questa Hope, Peter Osin, Rachel Jackson, Christine Southgate, Rashmi Singh, Alison Falconer, David P. Dearnaley, Audrey Ardern-Jones, Annette Murkin, Anna Dowe, Jo Kelly, Sue Williams, Richard Oram, Margaret Stevens, Dawn M. Teare, A.J. Bruce Ponder, et al. | |
| 13-22 | Association between the Severity of Angiographic Coronary Artery Disease and Paraoxonase Gene Polymorphisms in the National Heart, Lung, and Blood Institute–Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study | Qi Chen, Steven E. Reis, Candace M. Kammerer, Dennis M. McNamara, Richard Holubkov, Barry L. Sharaf, George Sopko, Daniel F. Pauly, C. Noel Bairey Merz, M. Ilyas Kamboh and WISE Study Group |
| 23-31 | Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α-Galactosidase A mRNA | Daniël Blom, Dave Speijer, Gabor E. Linthorst, Wilma G. Donker-Koopman, Anneke Strijland, M.F.G. Johannes Aerts |
| 32-47 | Distribution Patterns of Postmortem Damage in Human Mitochondrial DNA | M. Thomas P. Gilbert, Eske Willerslev, Anders J. Hansen, Ian Barnes, Lars Rudbeck, Niels Lynnerup, Alan Cooper |
| 48-61 | Characterization of Genetic Miscoding Lesions Caused by Postmortem Damage | M. Thomas P. Gilbert, Anders J. Hansen, Eske Willerslev, Lars Rudbeck, Ian Barnes, Niels Lynnerup, Alan Cooper |
| 62-72 | A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population | Zanhua Yi, Nanibaa’ Garrison, Orit Cohen-Barak, Tatiana M. Karafet, Richard A. King, Robert P. Erickson, Michael F. Hammer, Murray H. Brilliant |
| 73-82 | Identification of CRYM | Satoko Abe, Toyomasa Katagiri, Akihiko Saito-Hisaminato, Shin-ichi Usami, Yasuhiro Inoue, Tatsuhiko Tsunoda, Yusuke Nakamura |
| 83-87 | Association of Neuregulin 1 with Schizophrenia Confirmed in a Scottish Population | Hreinn Stefansson, Jane Sarginson, Augustine Kong, Phil Yates, Valgerdur Steinthorsdottir, Einar Gudfinnsson, Steinunn Gunnarsdottir, Nicholas Walker, Hannes Petursson, Caroline Crombie, Andres Ingason, Jeffrey R. Gulcher, Kari Stefansson, David St Clair |
| 88-100 | A Founding Locus within the RET | Salud Borrego, Fred A. Wright, Raquel M. Fernández, Nita Williams, Manuel López-Alonso, Ramana Davuluri, Guillermo Antiñolo, Charis Eng |
| 101-114 | Mutations in COX15 | Hana Antonicka, Andre Mattman, Christopher G. Carlson, D. Moira Glerum, Kristen C. Hoffbuhr, Scot C. Leary, Nancy G. Kennaway, Eric A. Shoubridge |
| 115-124 | Interacting Genetic Loci on Chromosomes 20 and 10 Influence Extreme Human Obesity | Chuanhui Dong, Shuang Wang, Wei-Dong Li, Ding Li, Hongyu Zhao, R. Arlen Price |
| 125-131 | A Susceptibility Gene for Psoriatic Arthritis Maps to Chromosome 16q: Evidence for Imprinting | Ari Karason, Johann E. Gudjonsson, Ruchi Upmanyu, Arna A. Antonsdottir, Valdimar B. Hauksson, E. Hjaltey Runasdottir, Hjortur H. Jonsson, Daniel F. Gudbjartsson, Michael L. Frigge, Augustine Kong, Kari Stefansson, Helgi Valdimarsson, Jeffrey R. Gulcher |
| 132-143 | NSD1 | Jenny Douglas, Sandra Hanks, I. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, R.P. Trevor Cole, Nazneen Rahman |
| 144-155 | Comparison of Genome Screens for Two Independent Cohorts Provides Replication of Suggestive Linkage of Bone Mineral Density to 3p21 and 1p36 | S.G. Wilson, P.W. Reed, A. Bansal, M. Chiano, M. Lindersson, M. Langdown, R.L. Prince, D. Thompson, E. Thompson, M. Bailey, P.W. Kleyn, P. Sambrook, M.M. Shi, T.D. Spector |
| 156-160 | Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 | Michael R. DeBaun, Emily L. Niemitz, Andrew P. Feinberg |
| 161-167 | A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 | D. Soragna, A. Vettori, G. Carraro, E. Marchioni, G. Vazza, S. Bellini, R. Tupler, F. Savoldi, M.L. Mostacciuolo |
| 168-177 | Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families | Hannele Laivuori, Päivi Lahermo, Vesa Ollikainen, Elisabeth Widen, Leena Häivä-Mällinen, Helena Sundström, Tarja Laitinen, Risto Kaaja, Olavi Ylikorkala, Juha Kere |
| 178-184 | The Genetic Origins of the Andaman Islanders | Phillip Endicott, M. Thomas P. Gilbert, Chris Stringer, Carles Lalueza-Fox, Eske Willerslev, Anders J. Hansen, Alan Cooper |
| 185-190 | Support for Association of Schizophrenia with Genetic Variation in the 6p22.3 Gene, Dysbindin, in Sib-Pair Families with Linkage and in an Additional Sample of Triad Families | Sibylle G. Schwab, Michael Knapp, Stephanie Mondabon, Joachim Hallmayer, Margitta Borrmann-Hassenbach, Margot Albus, Bernard Lerer, Marcella Rietschel, Matyas Trixler, Wolfgang Maier, Dieter B. Wildenauer |
| 191-199 | A Mutation in the Fibroblast Growth Factor 14 | John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink |
| 200-207 | Significant Linkage on Chromosome 10p in Families with Bulimia Nervosa | Cynthia M. Bulik, B. Devlin, Silviu-Alin Bacanu, Laura Thornton, Kelly L. Klump, Manfred M. Fichter, Katherine A. Halmi, Allan S. Kaplan, Michael Strober, D. Blake Woodside, Andrew W. Bergen, J. Kelly Ganjei, Scott Crow, James Mitchell, Alessandro Rotondo, Mauro Mauri, Giovanni Cassano, Pamela Keel, Wade H. Berrettini, Walter H. Kaye |
| 208-212 | Common Sequence Variants of the Macrophage Scavenger Receptor 1 Gene Are Associated with Prostate Cancer Risk | Jianfeng Xu, S. Lilly Zheng, Akira Komiya, Josyf C. Mychaleckyj, Sarah D. Isaacs, Baoli Chang, Aubrey R. Turner, Charles M. Ewing, Kathleen E. Wiley, Gregory A. Hawkins, Eugene R. Bleecker, Patrick C. Walsh, Deborah A. Meyers, William B. Isaacs |
| 213-216 | Early-Onset Brain Tumor and Lymphoma in MSH2 | Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M. Ruchoux, Nathalie Drouot, Thierry Frébourg |
| 216-218 | Hereditary p16-Leiden Mutation in a Patient with Multiple Head and Neck Tumors | Regine Schneider-Stock, Anja Giers, Christiane Motsch, Carsten Boltze, Matthias Evert, Bernd Freigang, Albert Roessner |
| 218-219 | Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection | K.H. Ørstavik, K. Eiklid, C.B. van der Hagen, S. Spetalen, K. Kierulf, O. Skjeldal, K. Buiting |
| 220-221 | Pharmacogenomics. | Felix Frueh |
| 221-222 | The Molecule Hunt. | Peter de Knijff |
| 223-224 | Announcements | |
| 225 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 227 | 2002 Cotterman Award Winners | |
| 228-232 | The Complexity of Complex Diseases | P. Michael Conneally |
| 233-235 | Introductory Speech for Albert de la Chapelle | Janet D. Rowley |
| 236-240 | Inherited Human Diseases: Victories, Challenges, Disappointments | Albert de la Chapelle |
| 241 | Introductory Speech for Kurt Hirschhorn | Barton Childs |
| 242-243 | Education: A Joint Effort | Kurt Hirschhorn |
| 244-245 | Introductory Speech for James R. Lupski | Robert D. Nicholls |
| 246-252 | Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture | James R. Lupski |
| 253-269 | Sensitive and Efficient Detection of RB1 | Suzanne Richter, Kirk Vandezande, Ning Chen, Katherine Zhang, Joanne Sutherland, Julie Anderson, Liping Han, Rachel Panton, Patricia Branco, Brenda Gallie |
| 270-280 | Mutations in CHEK2 | Xiangyang Dong, Liang Wang, Ken Taniguchi, Xianshu Wang, Julie M. Cunningham, Shannon K. McDonnell, Chiping Qian, Angela F. Marks, Susan L. Slager, Brett J. Peterson, David I. Smith, John C. Cheville, Michael L. Blute, Steve J. Jacobsen, Daniel J. Schaid, Donald J. Tindall, Stephen N. Thibodeau, Wanguo Liu |
| 281-302 | Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea | Manfred Kayser, Silke Brauer, Gunter Weiss, Wulf Schiefenhövel, Peter Underhill, Peidong Shen, Peter Oefner, Mila Tommaseo-Ponzetta, Mark Stoneking |
| 303-312 | Identification of I | Koichi Okamoto, Satoshi Makino, Yoko Yoshikawa, Asumi Takaki, Yumie Nagatsuka, Masao Ota, Gen Tamiya, Akinori Kimura, Seiamak Bahram, Hidetoshi Inoko |
| 313-332 | The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations | T. Kivisild, S. Rootsi, M. Metspalu, S. Mastana, K. Kaldma, J. Parik, E. Metspalu, M. Adojaan, H.-V. Tolk, V. Stepanov, M. Gölge, E. Usanga, S.S. Papiha, C. Cinnioğlu, R. King, L. Cavalli-Sforza, P.A. Underhill, R. Villems |
| 333-339 | The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England | P.Y.W. Man, P.G. Griffiths, D.T. Brown, N. Howell, D.M. Turnbull, P.F. Chinnery |
| 340-350 | A Whole-Genome Scan for Obstructive Sleep Apnea and Obesity | Lyle J. Palmer, Sarah G. Buxbaum, Emma Larkin, Sanjay R. Patel, Robert C. Elston, Peter V. Tishler, Susan Redline |
| 351-363 | Hierarchical Modeling of Linkage Disequilibrum: Genetic Structure and Spatial Relations | David V. Conti, John S. Witte |
| 364-374 | CD36 | Kazuya Omi, Jun Ohashi, Jintana Patarapotikul, Hathairad Hananantachai, Izumi Naka, Sornchai Looareesuwan, Katsushi Tokunaga |
| 375-383 | Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 | Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman |
| 384-398 | Estimation of Haplotype Frequencies, Linkage-Disequilibrium Measures, and Combination of Haplotype Copies in Each Pool by Use of Pooled DNA Data | Toshikazu Ito, Suenori Chiku, Eisuke Inoue, Makoto Tomita, Takayuki Morisaki, Hiroko Morisaki, Naoyuki Kamatani |
| 399-407 | Skewed X-Chromosome Inactivation Is Associated with Trisomy in Women Ascertained on the Basis of Recurrent Spontaneous Abortion or Chromosomally Abnormal Pregnancies | C.L. Beever, M.D. Stephenson, M.S. Peñaherrera, R.H. Jiang, D.K. Kalousek, M. Hayden, L. Field, C.J. Brown, W.P. Robinson |
| 408-418 | Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia | William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs |
| 419-428 | Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene | Daniel H. Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R. Powell, David L. Rimoin |
| 429-437 | Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1 | Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, C.M. Raoul Hennekam, Güven Lüleci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, et al. | |
| 438-447 | Studying Parents and Grandparents to Assess Genetic Contributions to Early-Onset Disease | Clarice R. Weinberg |
| 448-453 | Genomewide Linkage Analysis Identifies Polymorphism in the Human Interferon-γ Receptor Affecting Helicobacter pylori | Thorsten Thye, Gerd D. Burchard, Manfred Nilius, Bertram Müller-Myhsok, Rolf D. Horstmann |
| 454-464 | Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles | Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck Jr., Alice D. Gargano, Amy Sullivan, Valérie Biancalana, Karen Bröndum-Nielsen, Helle Hjalgrim, Elke Holinski-Feder, Frank Kooy, John Longshore, James Macpherson, Jean-Louis Mandel, Gert Matthijs, Francois Rousseau, Peter Steinbach, Marja-Leena Väisänen, Harriet von Koskull, Stephanie L. Sherman |
| 465-470 | Mice Lacking Zfhx1b | Tom Van de Putte, Mitsuji Maruhashi, Annick Francis, Luc Nelles, Hisato Kondoh, Danny Huylebroeck, Yujiro Higashi |
| 471-477 | Identification of PEX7 | Daan M. van den Brink, Pedro Brites, Janet Haasjes, Anthony S. Wierzbicki, John Mitchell, Michelle Lambert-Hamill, Jacqueline de Belleroche, Gerbert A. Jansen, Hans R. Waterham, J.A. Ronald Wanders |
| 478-487 | FOXL2 | Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A. Koivisto, Amanda Krause, Bart P. Leroy, Françoise Meire, Astrid Plomp, Lionel Van Maldergem, Anne De Paepe, Reiner Veitia, et al. | |
| 488-495 | Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of Crossovers in Chromosome 21 Nondisjunction | Sue Ann Berend, Scott L. Page, William Atkinson, Christopher McCaskill, Neil E. Lamb, Stephanie L. Sherman, Lisa G. Shaffer |
| 496 | Simulation-Based P | Karl W. Broman, Brian S. Caffo |
| 496-498 | On Estimating P | Warren J. Ewens |
| 498-499 | A Note on the Calculation of Empirical P | B.V. North, D. Curtis, P.C. Sham |
| 499-501 | Confirmatory Evidence for Linkage of Relative Hand Skill to 2p12-q11 | Clyde Francks, Lynn E. DeLisi, Simon E. Fisher, Steve H. Laval, Judith E. Rue, John F. Stein, Anthony P. Monaco |
| 503 | Cleft Lip and Palate: From Origin to Treatment. | Michael Melnick |
| 503-504 | Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects | William R. Wilcox |
| 505-507 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 509-518 | A Novel NOD2/CARD15 | Kazuhito Sugimura, Kent D. Taylor, Ying-chao Lin, Tieu Hang, Dai Wang, Yong-Ming Tang, Nathan Fischel-Ghodsian, Stephan R. Targan, Jerome I. Rotter, Huiying Yang |
| 519-534 | Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease | Nahid Tayebi, Barbara K. Stubblefield, Joseph K. Park, Eduard Orvisky, Jamie M. Walker, Mary E. LaMarca, Ellen Sidransky |
| 535-538 | Failure to Find DUP25 in Patients with Anxiety Disorders, in Control Individuals, or in Previously Reported Positive Control Cell Lines | Melody Tabiner, Sheila Youings, Nicholas Dennis, David Baldwin, Christel Buis, Andrew Mayers, Patricia A. Jacobs, John A. Crolla |
| 539-548 | Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes | Yujun Shao, M.L. Cuccaro, E.R. Hauser, K.L. Raiford, M.M. Menold, C.M. Wolpert, S.A. Ravan, L. Elston, K. Decena, S.L. Donnelly, R.K. Abramson, H.H. Wright, G.R. DeLong, J.R. Gilbert, M.A. Pericak-Vance |
| 549-560 | Accumulation of Mitochondrial DNA Mutations in Human Immunodeficiency Virus–Infected Patients Treated with Nucleoside-Analogue Reverse-Transcriptase Inhibitors | Annalise M. Martin, Emma Hammond, David Nolan, Craig Pace, Marion Den Boer, Louise Taylor, Hannah Moore, Olga Patricia Martinez, Frank T. Christiansen, Simon Mallal |
| 561-570 | Use of Multivariate Linkage Analysis for Dissection of a Complex Cognitive Trait | Angela J. Marlow, Simon E. Fisher, Clyde Francks, I. Laurence MacPhie, Stacey S. Cherny, Alex J. Richardson, Joel B. Talcott, John F. Stein, Anthony P. Monaco, Lon R. Cardon |
| 571-577 | Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect | Karin Buiting, Stephanie Groß, Christina Lich, Gabriele Gillessen-Kaesbach, Osman El-Maarri, Bernhard Horsthemke |
| 578-589 | Human Population Genetic Structure and Inference of Group Membership | Michael J. Bamshad, Stephen Wooding, W. Scott Watkins, Christopher T. Ostler, Mark A. Batzer, Lynn B. Jorde |
| 590-597 | Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 | Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Buttè, Luigi Memo, Giuseppe Capovilla, Giovanni Neri |
| 598-610 | Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test | Adele A. Mitchell, David J. Cutler, Aravinda Chakravarti |
| 611-620 | A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data | Michael P. Epstein, Xihong Lin, Michael Boehnke |
| 621-635 | Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin α Cluster | James P. Noonan, Jun Li, Loan Nguyen, Chenier Caoile, Mark Dickson, Jane Grimwood, Jeremy Schmutz, Marcus W. Feldman, Richard M. Myers |
| 636-649 | Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes | Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J.M. Friedman, W. Dana Flanders |
| 650-658 | Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 | José L. Badano, Stephen J. Ansley, Carmen C. Leitch, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis |
| 659-670 | The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates | Neil Howell, Christy Bogolin Smejkal, D.A. Mackey, P.F. Chinnery, D.M. Turnbull, Corinna Herrnstadt |
| 671-680 | Informative Missingness in Genetic Association Studies: Case-Parent Designs | Andrew S. Allen, Paul J. Rathouz, Glen A. Satten |
| 681-690 | Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes | Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt, Ann Rutherford, Frank G. Whitby, Patrycja A. Krakowiak, Lynn B. Jorde, John C. Carey, Mike Bamshad |
| 691-703 | Mutations in PRKCSH | Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S. Kamath, Bernard F. King, Vicente E. Torres, Stefan Somlo |
| 704-709 | SCA8 | Yuishin Izumi, Hirofumi Maruyama, Masaya Oda, Hiroyuki Morino, Takayuki Okada, Hidefumi Ito, Iwao Sasaki, Hiroyasu Tanaka, Osamu Komure, Fukashi Udaka, Shigenobu Nakamura, Hideshi Kawakami |
| 710-716 | HLA-DR2 | L.F. Barcellos, J.R. Oksenberg, A.B. Begovich, E.R. Martin, S. Schmidt, E. Vittinghoff, D.S. Goodin, D. Pelletier, R.R. Lincoln, P. Bucher, A. Swerdlin, M.A. Pericak-Vance, J.L. Haines, S.L. Hauser and Multiple Sclerosis Genetics Group |
| 717-721 | The Genetic Legacy of the Mongols | Tatiana Zerjal, Yali Xue, Giorgio Bertorelle, R. Spencer Wells, Weidong Bao, Suling Zhu, Raheel Qamar, Qasim Ayub, Aisha Mohyuddin, Songbin Fu, Pu Li, Nadira Yuldasheva, Ruslan Ruzibakiev, Jiujin Xu, Qunfang Shu, Ruofu Du, Huanming Yang, Matthew E. Hurles, Elizabeth Robinson, Tudevdagva Gerelsaikhan, et al. | |
| 722-727 | Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy | Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer-Grumbach, Jennifer M. Kwon, David FitzPatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans-Peter Hartung, Vincent Timmerman |
| 728-732 | Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome | Victor L. Ruiz-Perez, W.J. Stuart Tompson, J. Helen Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship |
| 733-738 | The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats | Hiroki Kurahashi, Tamim Shaikh, Masayuki Takata, Tatsushi Toda, Beverly S. Emanuel |
| 739-748 | Large Differences between LINE-1 Amplification Rates in the Human and Chimpanzee Lineages | Lauren M. Mathews, Susan Y. Chi, Noam Greenberg, Igor Ovchinnikov, Gary D. Swergold |
| 749-758 | Tissue-Specific Reduction in Splicing Efficiency of IKBKAP | Math P. Cuajungco, Maire Leyne, James Mull, Sandra P. Gill, Weining Lu, David Zagzag, Felicia B. Axelrod, Channa Maayan, James F. Gusella, Susan A. Slaugenhaupt |
| 759-762 | Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q | S.L. Slager, D.J. Schaid, J.M. Cunningham, S.K. McDonnell, A.F. Marks, B.J. Peterson, S.J. Hebbring, S. Anderson, A.J. French, S.N. Thibodeau |
| 763-771 | Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5 | Liesbeth Van Wesenbeeck, Erna Cleiren, Jeppe Gram, Rodney K. Beals, Olivier Bénichou, Domenico Scopelliti, Lyndon Key, Tara Renton, Cindy Bartels, Yaoqin Gong, Matthew L. Warman, Marie-Christine de Vernejoul, Jens Bollerslev, Wim Van Hul |
| 772-773 | Overgrowth Syndromes. | Ann Haskins Olney |
| 773-774 | Genes and Mechanisms in Vertebrate Sex Determination, The Genetics and Biology of Sex Determination. | John M. Opitz |
| 775-778 | Announcements | |
| 779 | Erratum | |
| 779 | Erratum | |
| 780 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 781-784 | Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002) | Nelson B. Freimer, Peter Heutink, Cisca Wijmenga |
| 785-803 | Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease | J. Jay Gargus |
| 804-811 | Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease | Joelle M. van der Walt, Kristin K. Nicodemus, Eden R. Martin, William K. Scott, Martha A. Nance, Ray L. Watts, Jean P. Hubble, Jonathan L. Haines, William C. Koller, Kelly Lyons, Rajesh Pahwa, Matthew B. Stern, Amy Colcher, Bradley C. Hiner, Joseph Jankovic, William G. Ondo, Fred H. Allen Jr., Christopher G. Goetz, Gary W. Small, Frank Mastaglia, et al. | |
| 812-822 | Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection | Neil Risch, Hua Tang, Howard Katzenstein, Josef Ekstein |
| 823-838 | ATLAS: A System to Selectively Identify Human-Specific L1 Insertions | Richard M. Badge, Reid S. Alisch, John V. Moran |
| 839-849 | Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia | Dong-Hui Chen, Zoran Brkanac, L.M.J. Christophe Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P.J. Cimino, D. Thomas Bird, Wendy H. Raskind |
| 850-868 | Genome Association Studies of Complex Diseases by Case-Control Designs | Ruzong Fan, Michael Knapp |
| 869-878 | Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates | Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted Brown, Stephane Schaeffer, John Kissel, Flora Tassone, Paul J. Hagerman |
| 879-890 | Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism | Jan Fullerton, Matthew Cubin, Hemant Tiwari, Chenxi Wang, Amarjit Bomhra, Stuart Davidson, Sue Miller, Christopher Fairburn, Guy Goodwin, Michael C. Neale, Simon Fiddy, Richard Mott, David B. Allison, Jonathan Flint |
| 891-902 | On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit | Jung-Ying Tzeng, B. Devlin, Larry Wasserman, Kathryn Roeder |
| 903-917 | Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-Density Lipoprotein Cholesterol on Chromosome 16q | Päivi Pajukanta, Hooman Allayee, Kelly L. Krass, Ali Kuraishy, Aino Soro, Heidi E. Lilja, Rebecca Mar, Marja-Riitta Taskinen, Ilpo Nuotio, Markku Laakso, Jerome I. Rotter, W.A. de Bruin Tjerk, M. Rita Cantor, J. Aldons Lusis, Leena Peltonen |
| 918-930 | Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3 | Carlos Cardoso, Richard J. Leventer, Heather L. Ward, Kazuhito Toyo-oka, June Chung, Alyssa Gross, Christa L. Martin, Judith Allanson, Daniela T. Pilz, Ann H. Olney, Osvaldo M. Mutchinick, Shinji Hirotsune, Anthony Wynshaw-Boris, William B. Dobyns, David H. Ledbetter |
| 931-939 | Rapid Direct Sequence Analysis of the Dystrophin Gene | Kevin M. Flanigan, Andrew von Niederhausern, Diane M. Dunn, Jonathan Alder, Jerry R. Mendell, Robert B. Weiss |
| 940-948 | Deletion of the Telomerase Reverse Transcriptase | Anju Zhang, Chengyun Zheng, Mi Hou, Charlotta Lindvall, Ke-Jun Li, Fredrik Erlandsson, Magnus Björkholm, Astrid Gruber, Elisabeth Blennow, Dawei Xu |
| 949-960 | Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs | Jian Huang, Yanming Jiang |
| 961-974 | Analysis of GNAS1 | Sarah J. Rickard, Louise C. Wilson |
| 975-983 | Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk | Shih-Jen Hwang, Guillermina Lozano, Christopher I. Amos, Louise C. Strong |
| 984-997 | Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E | David Johnson, Shih-hsin Kan, Michael Oldridge, Richard C. Trembath, Philippe Roche, Robert M. Esnouf, Henk Giele, O.M. Andrew Wilkie |
| 998-1004 | Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5 | Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, Takako Sasaki, Günter Kostka, Rupert Timpl, Jouni Uitto, Mon-Li Chu |
| 1005-1012 | Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation | Antonio Torroni, Yolanda Campos, Chiara Rengo, Daniele Sellitto, Alessandro Achilli, Chiara Magri, Ornella Semino, Alberto García, Pilar Jara, Joaquín Arenas, Rosaria Scozzari |
| 1013-1017 | Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene | Hans R. Waterham, Janet Koster, Petra Mooyer, Gerard van Noort, Richard I. Kelley, William R. Wilcox, J.A. Ronald Wanders, C.M. Raoul Hennekam, C. Jan Oosterwijk |
| 1018-1022 | Genetic Evidence for Interaction of the 5q31 Cytokine Locus and the CARD15 | Muddassar M. Mirza, Sheila A. Fisher, Kathy King, Andrew P. Cuthbert, Jochen Hampe, Jeremy Sanderson, John Mansfield, Peter Donaldson, J.S. Andrew Macpherson, Alastair Forbes, Stefan Schreiber, M. Cathryn Lewis, G. Christopher Mathew |
| 1023-1028 | Variants in CHEK2 | Mieke Schutte, Sheila Seal, Rita Barfoot, Hanne Meijers-Heijboer, Marijke Wasielewski, D. Gareth Evans, Diana Eccles, Carel Meijers, Frans Lohman, Jan Klijn, Ans van den Ouweland, P. Andrew Futreal, Katherine L. Nathanson, Barbara L. Weber, Douglas F. Easton, Michael R. Stratton, Nazneen Rahman and The Breast Cancer Linkage Consortium |
| 1029-1034 | Evidence for a Gene Influencing Serum Bilirubin on Chromosome 2q Telomere: A Genomewide Scan in the Framingham Study | Jing-Ping Lin, L. Adrienne Cupples, Peter W. F. Wilson, Nancy Heard-Costa, Christopher J. O’Donnell |
| 1035-1039 | Estimation and Testing of Parent-of-Origin Effects for Quantitative Traits | John C. Whittaker, Neda Gharani, Peter Hindmarsh, Mark I. McCarthy |
| 1040-1046 | Homozygous Mutations in IHH | Jan Hellemans, Paul J. Coucke, Andres Giedion, Anne De Paepe, Peter Kramer, Frits Beemer, Geert R. Mortier |
| 1047-1052 | Missense Mutations in CRELD1 | Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen |
| 1053-1057 | Significant Linkage of Parkinson Disease to Chromosome 2q36-37 | Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Alice Rudolph, Cliff Shults, P. Michael Conneally, Tatiana Foroud and Parkinson Study Group |
| 1058-1064 | Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations | Martin Richards, Chiara Rengo, Fulvio Cruciani, Fiona Gratrix, James F. Wilson, Rosaria Scozzari, Vincent Macaulay, Antonio Torroni |
| 1065-1070 | Conditional JAG1 | Fengmin Lu, J.D. Jennifer Morrissette, Nancy B. Spinner |
| 1071-1073 | Resolving ATM | Richard Letrero, Barbara L. Weber, Katherine L. Nathanson |
| 1074-1077 | Announcements | |
| 1078 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1079-1083 | Richard H. Ward, Ph.D. (June 7, 1943–February 14, 2003): Wild Ride of the Valkyries | Kenneth M. Weiss |
| 1084-1087 | The Emperor’s New Methods | M. Anne Spence, David A. Greenberg, Susan E. Hodge, Veronica J. Vieland |
| 1088-1100 | Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 | Anja Wagner, Alicia Barrows, Juul Th. Wijnen, Heleen van der Klift, Patrick F. Franken, Paul Verkuijlen, Hidewaki Nakagawa, Marjan Geugien, Shantie Jaghmohan-Changur, Cor Breukel, Hanne Meijers-Heijboer, Hans Morreau, Marjo van Puijenbroek, John Burn, Stephany Coronel, Yulia Kinarski, Ross Okimoto, Patrice Watson, Jane F. Lynch, Albert de la Chapelle, et al. | |
| 1101-1116 | Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements | Paweł Stankiewicz, Christine J. Shaw, Jason D. Dapper, Keiko Wakui, Lisa G. Shaffer, Marjorie Withers, Leah Elizondo, Sung-Sup Park, James R. Lupski |
| 1117-1130 | Average Risks of Breast and Ovarian Cancer Associated with BRCA1 | A. Antoniou, P.D.P. Pharoah, S. Narod, H.A. Risch, J.E. Eyfjord, J.L. Hopper, N. Loman, H. Olsson, O. Johannsson, Å. Borg, B. Pasini, P. Radice, S. Manoukian, D.M. Eccles, N. Tang, E. Olah, H. Anton-Culver, E. Warner, J. Lubinski, J. Gronwald, et al. | |
| 1131-1140 | Polymorphisms at the G72/G30 | Eiji Hattori, Chunyu Liu, Judith A. Badner, Tom I. Bonner, Susan L. Christian, Manjula Maheshwari, Sevilla D. Detera-Wadleigh, Richard A. Gibbs, Elliot S. Gershon |
| 1141-1153 | Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma | H. Azzedine, A. Bolino, T. Taïeb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, E. LeGuern |
| 1154-1161 | KLOTHO | Dan E. Arking, Diane M. Becker, Lisa R. Yanek, Daniele Fallin, Daniel P. Judge, Taryn F. Moy, Lewis C. Becker, Harry C. Dietz |
| 1162-1170 | Past Exposure to Densely Ionizing Radiation Leaves a Unique Permanent Signature in the Genome | M. Prakash Hande, Tamara V. Azizova, Charles R. Geard, Ludmilla E. Burak, Catherine R. Mitchell, Valentin F. Khokhryakov, Evgeny K. Vasilenko, David J. Brenner |
| 1171-1186 | Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers | Lev A. Zhivotovsky, Noah A. Rosenberg, Marcus W. Feldman |
| 1187-1199 | Genetic Interaction of BBS1 | Philip L. Beales, Jose L. Badano, Alison J. Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter J. Scambler, Richard Alan Lewis, James R. Lupski, Nicholas Katsanis |
| 1200-1212 | Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome | Heidi A. Heilstedt, Blake C. Ballif, Leslie A. Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, Lisa G. Shaffer |
| 1213-1220 | Cost-Effective Designs for Linkage Disequilibrium Mapping of Complex Traits | Susan K. Service, Lodewijk A. Sandkuijl, Nelson B. Freimer |
| 1221-1230 | Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland | Thorgeir E. Thorgeirsson, Högni Oskarsson, Natasa Desnica, Jelena Pop Kostic, Jon G. Stefansson, Halldor Kolbeinsson, Eirikur Lindal, Nikolai Gagunashvili, Michael L. Frigge, Augustine Kong, Kari Stefansson, Jeffrey R. Gulcher |
| 1231-1250 | A Method for the Assessment of Disease Associations with Single-Nucleotide Polymorphism Haplotypes and Environmental Variables in Case-Control Studies | Lue Ping Zhao, Shuying Sue Li, Najma Khalid |
| 1251-1260 | A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q | S.C. Bakker, E. M. van der Meulen, J.K. Buitelaar, L.A. Sandkuijl, D.L. Pauls, A.J. Monsuur, R. van ‘t Slot, R.B. Minderaa, W.B. Gunning, P.L. Pearson, R.J. Sinke |
| 1261-1267 | An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 | E.E.M. Jaeger, K.L. Woodford-Richens, M. Lockett, A.J. Rowan, E.J. Sawyer, K. Heinimann, P. Rozen, V.A. Murday, S.C. Whitelaw, A. Ginsberg, W.S. Atkin, H.T. Lynch, M.C. Southey, H. Debinski, C. Eng, W.F. Bodmer, I.C. Talbot, S.V. Hodgson, H.J.W. Thomas, I.P.M. Tomlinson |
| 1268-1279 | A Genomewide Scan for Attention-Deficit/Hyperactivity Disorder in an Extended Sample: Suggestive Linkage on 17p11 | Matthew N. Ogdie, I. Laurence Macphie, Sonia L. Minassian, May Yang, Simon E. Fisher, Clyde Francks, Rita M. Cantor, James T. McCracken, James J. McGough, Stanley F. Nelson, Anthony P. Monaco, Susan L. Smalley |
| 1280-1281 | PowerTrim: An Automated Decision Support Algorithm for Preprocessing Family-Based Genetic Data | Tricia A. Thornton, Jonathan L. Haines |
| 1282-1287 | Native American Y Chromosomes in Polynesia: The Genetic Impact of the Polynesian Slave Trade | Matthew E. Hurles, Emma Maund, Jane Nicholson, Elena Bosch, Colin Renfrew, Bryan C. Sykes, Mark A. Jobling |
| 1288-1292 | Elevated Risk for MPNST in NF1 | T. De Raedt, H. Brems, P. Wolkenstein, D. Vidaud, S. Pilotti, F. Perrone, V. Mautner, S. Frahm, R. Sciot, E. Legius |
| 1293-1299 | Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V | Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy Sivakumar, Victor Ionasescu, Benoit Funalot, Jeffery M. Vance, Lev G. Goldfarb, Kenneth H. Fischbeck, Eric D. Green |
| 1300-1307 | 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 | Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Duran, Tien Bwee Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, J.A. Ronald Wanders |
| 1308-1314 | The CHEK2 | Hanne Meijers-Heijboer, Marijke Wasielewski, Anja Wagner, Antoinette Hollestelle, Fons Elstrodt, Renate van den Bos, Anja de Snoo, Grace Tjon A Fat, Cecile Brekelmans, Shantie Jagmohan, Patrick Franken, Paul Verkuijlen, Ans van den Ouweland, Pamela Chapman, Carli Tops, Gabriela Möslein, John Burn, Henry Lynch, Jan Klijn, Riccardo Fodde, et al. | |
| 1315-1322 | Mutations of MYO6 | Zubair M. Ahmed, Robert J. Morell, Saima Riazuddin, Andrea Gropman, Shahzad Shaukat, Mussaber M. Ahmad, Saidi A. Mohiddin, Lameh Fananapazir, Rafael C. Caruso, Tayyab Husnain, Shaheen N. Khan, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Edward R. Wilcox |
| 1323-1330 | A Family-Based Test for Correlation between Gene Expression and Trait Values | Peter Kraft, Eric Schadt, Jason Aten, Steve Horvath |
| 1331-1337 | Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome | Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masato Tsukahara, Satoshi Ishikiriyama, Tohru Sonoda, Yoko Miyoshi, Satoru Sakazume, Yoshimitsu Fukushima, Hirofumi Ohashi, Toshiro Nagai, Hiroshi Kawame, Kenji Kurosawa, Mayumi Touyama, Takashi Shiihara, Nobuhiko Okamoto, Junji Nishimoto, et al. | |
| 1338-1341 | In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT | Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Antoine Flahault, Yves Le Bouc |
| 1341-1346 | To Trust or Not to Trust an Idiosyncratic Mitochondrial Data Set | Yong-Gang Yao, Vincent Macaulay, Toomas Kivisild, Ya-Ping Zhang, Hans-Jürgen Bandelt |
| 1346-1348 | Correction: Mitochondrial DNA Variation in Amerindians | Wilson A. Silva Jr., Sandro L. Bonatto, Adriano J. Holanda, Andrea K. Ribeiro-dos-Santos, Beatriz M. Paixão, Gustavo H. Goldman, Kiyoko Abe-Sandes, Luis Rodriguez-Delfin, Marcela Barbosa, Maria Luiza Paçó-Larson, Maria Luiza Petzl-Erler, Valeria Valente, E.B. Sidney Santos, Marco A. Zago |
| 1348-1349 | Reply to Silva et al. | Yong-Gang Yao, Vincent Macaulay, Toomas Kivisild, Ya-Ping Zhang, Hans-Jürgen Bandelt |
| 1349-1352 | A Multicolor FISH Assay Does Not Detect DUP25 in Control Individuals or in Reported Positive Control Cells | Yanina Weiland, Jürgen Kraus, Michael R. Speicher |
| 1353 | Molecular Cytogenetics: Protocols and Applications | Marilyn M. Li |
| 1354 | Down Syndrome: Visions for the 21st Century | Don C. Van Dyke |
| 1355-1357 | Announcements | |
| 1358 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1359-1369 | Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, | Juha Kolehmainen, Graeme C.M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de la Chapelle, Anna-Elina Lehesjoki |
| 1370-1388 | A Populationwide Coalescent Analysis of Icelandic Matrilineal and Patrilineal Genealogies: Evidence for a Faster Evolutionary Rate of mtDNA Lineages than Y Chromosomes | Agnar Helgason, Birgir Hrafnkelsson, Jeffrey R. Gulcher, Ryk Ward, Kári Stefánsson |
| 1389-1400 | The Structure of Linkage Disequilibrium at the DBH | Cyrus P. Zabetian, Sarah G. Buxbaum, Robert C. Elston, Michael D. Köhnke, George M. Anderson, Joel Gelernter, Joseph F. Cubells |
| 1401-1411 | Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation | Vera M. Kalscheuer, Jiong Tao, Andrew Donnelly, Georgina Hollway, Eberhard Schwinger, Sabine Kübart, Corinna Menzel, Maria Hoeltzenbein, Niels Tommerup, Helen Eyre, Michael Harbord, Eric Haan, Grant R. Sutherland, Hans-Hilger Ropers, Jozef Gécz |
| 1412-1424 | A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study | James H. Schick, Sudha K. Iyengar, Barbara E. Klein, Ronald Klein, Karlie Reading, Rachel Liptak, Christopher Millard, Kristine E. Lee, Sandra C. Tomany, Emily L. Moore, Bonnie A. Fijal, Robert C. Elston |
| 1425-1435 | Variation in the HLA-G | Carole Ober, Carrie L. Aldrich, Inna Chervoneva, Christine Billstrand, Fedik Rahimov, Heather L. Gray, Terry Hyslop |
| 1436-1447 | Two Modes of Germline Instability at Human Minisatellite MS1 (Locus D1S7 | Ingrid Berg, Rita Neumann, Håkan Cederberg, Ulf Rannug, Alec J. Jeffreys |
| 1448-1459 | Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 | Stefán Einar Stefánsson, Helgi Jónsson, Thorvaldur Ingvarsson, Ileana Manolescu, Hjörtur H. Jónsson, Guðbjörg Ólafsdóttir, Ebba Pálsdóttir, Gerður Stefánsdóttir, Guðfinna Sveinbjörnsdóttir, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, Kári Stefánsson |
| 1460-1469 | Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy | Neil Howell, Roelof-Jan Oostra, Piet A. Bolhuis, Liesbeth Spruijt, Lorne A. Clarke, David A. Mackey, Gwen Preston, Corinna Herrnstadt |
| 1470-1478 | Mutations in the Transcription Factor Gene SOX18 | Alexandre Irrthum, Koenraad Devriendt, David Chitayat, Gert Matthijs, Conrad Glade, Peter M. Steijlen, Jean-Pierre Fryns, Maurice A. M. Van Steensel, Miikka Vikkula |
| 1479-1491 | Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate | Fernando Gianfrancesco, Teresa Esposito, Maria Neve Ombra, Paola Forabosco, Giuseppe Maninchedda, Mauro Fattorini, Stefania Casula, Simona Vaccargiu, Giuseppina Casu, Francesco Cardia, Ivo Deiana, Paola Melis, Mario Falchi, Mario Pirastu |
| 1492-1504 | Control of Confounding of Genetic Associations in Stratified Populations | Clive J. Hoggart, Esteban J. Parra, Mark D. Shriver, Carolina Bonilla, Rick A. Kittles, David G. Clayton, Paul M. McKeigue |
| 1505-1514 | Association and Interaction of the IL4R, IL4, and IL13 Loci with Type 1 Diabetes among Filipinos | Teodorica L. Bugawan, Daniel B. Mirel, Ana M. Valdes, Araceli Panelo, Paolo Pozzilli, Henry A. Erlich |
| 1515-1526 | A Novel Class of Tests for the Detection of Mitochondrial DNA–Mutation Involvement in Diseases | Fengzhu Sun, Jing Cui, Haralambos Gavras, Faina Schwartz |
| 1527-1535 | A Neutral Explanation for the Correlation of Diversity with Recombination Rates in Humans | Ines Hellmann, Ingo Ebersberger, Susan E. Ptak, Svante Pääbo, Molly Przeworski |
| 1536-1543 | Association of Specific Language Impairment (SLI) to the Region of 7q31 | Erin K. O’Brien, Xuyang Zhang, Carla Nishimura, J. Bruce Tomblin, Jeffrey C. Murray |
| 1544-1550 | Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations | Anne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, Françoise Bouhour, Pierre Labauge, Brandon F. Meaney, Susan Zeesman, Christine R. Kaneski, Raphael Schiffmann, Odile Boespflug-Tanguy |
| 1551-1559 | A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 | Lisa A. Freed, James S. Acierno Jr., Daisy Dai, Maire Leyne, Jane E. Marshall, Francesca Nesta, Robert A. Levine, Susan A. Slaugenhaupt |
| 1560-1564 | A Genomewide Screen for Generalized Vitiligo: Confirmation of AIS1 | Pamela R. Fain, Katherine Gowan, Greggory S. LaBerge, Asem Alkhateeb, Gary L. Stetler, Janet Talbert, Dorothy C. Bennett, Richard A. Spritz |
| 1565-1570 | Mutations of the PAX6 | Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Keiko Tadokoro, Atsuko Asaka, Eriko Kawase, Masao Yamada |
| 1571-1577 | Multiple Mutations ofMYO1A, | Francesca Donaudy, Antonella Ferrara, Laura Esposito, Ronna Hertzano, Orit Ben-David, Rachel E. Bell, Salvatore Melchionda, Leopoldo Zelante, Karen B. Avraham, Paolo Gasparini |
| 1578-1584 | Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH | Joris A. Veltman, Yvonne Jonkers, Inge Nuijten, Irene Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean-Pierre Fryns, Ronald Admiraal, Paulien Terhal, Didier Lacombe, Ad Geurts van Kessel, Dominique Smeets, Eric F.P.M. Schoenmakers, Conny M. van Ravenswaaij-Arts |
| 1585-1586 | Errors, Phantom and Otherwise, in Human mtDNA Sequences | Corinna Herrnstadt, Gwen Preston, Neil Howell |
| 1586-1590 | South Asia, the Andamanese, and the Genetic Evidence for an “Early” Human Dispersal out of Africa | Richard Cordaux, Mark Stoneking |
| 1590-1593 | Reply to Cordaux and Stoneking | Phillip Endicott, Vincent Macaulay, Toomas Kivisild, Chris Stringer, Alan Cooper |
| 1593-1594 | Single-Nucleotide Polymorphisms and Glaucoma Severity | Catey Bunce, Roger A. Hitchings, Shomi S. Bhattacharya, Ordan J. Lehmann |
| 1594-1595 | Reply to Bunce et al. | Bruno Copin, Antoine P. Brézin, Françoise Valtot, Jean-Claude Dascotte, Alain Béchetoille, Henri-Jean Garchon |
| 1596-1597 | Familial and Ovarian Cancer: Genetics, Screening and Management | June Peters |
| 1597-1598 | Essentials of Medical Genomics | Matthew E. Mealiffe |
| 1599-1601 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-4 | Sheldon C. Reed, Ph.D. (November 7, 1910–February 1, 2003): Genetic Counseling, Behavioral Genetics | V. Elving Anderson |
| 5-16 | Hot and Cold Spots of Recombination in the Human Genome: the Reason We Should Find Them and How This Can Be Achieved | Norman Arnheim, Peter Calabrese, Magnus Nordborg |
| 17-33 | Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis | Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado, Cathryn M. Lewis |
| 34-48 | Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia | Cathryn M. Lewis, Douglas F. Levinson, Lesley H. Wise, Lynn E. DeLisi, Richard E. Straub, Iiris Hovatta, Nigel M. Williams, Sibylle G. Schwab, Ann E. Pulver, Stephen V. Faraone, Linda M. Brzustowicz, Charles A. Kaufmann, David L. Garver, Hugh M.D. Gurling, Eva Lindholm, Hilary Coon, Hans W. Moises, William Byerley, Sarah H. Shaw, Andrea Mesen, et al. | |
| 49-62 | Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder | Ricardo Segurado, Sevilla D. Detera-Wadleigh, Douglas F. Levinson, Cathryn M. Lewis, Michael Gill, John I. Nurnberger Jr., Nick Craddock, J. Raymond DePaulo, Miron Baron, Elliot S. Gershon, Jenny Ekholm, Sven Cichon, Gustavo Turecki, Stephan Claes, John R. Kelsoe, Peter R. Schofield, Renee F. Badenhop, J. Morissette, Hilary Coon, Douglas Blackwood, et al. | |
| 63-73 | Haplotype Block Partition with Limited Resources and Applications to Human Chromosome 21 Haplotype Data | Kui Zhang, Fengzhu Sun, Michael S. Waterman, Ting Chen |
| 74-85 | Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 | Anna-Marie E. Brassington, Sandy S. Sung, Reha M. Toydemir, Trung Le, Amy D. Roeder, Ann E. Rutherford, Frank G. Whitby, Lynn B. Jorde, Michael J. Bamshad |
| 86-94 | Minimum Description Length Block Finder, a Method to Identify Haplotype Blocks and to Compare the Strength of Block Boundaries | H. Mannila, M. Koivisto, M. Perola, T. Varilo, W. Hennah, J. Ekelund, M. Lukk, L. Peltonen, E. Ukkonen |
| 95-106 | Mutations in the Fumarate Hydratase | Jorge R. Toro, Michael L. Nickerson, Ming-Hui Wei, Michelle B. Warren, Gladys M. Glenn, Maria L. Turner, Laveta Stewart, Paul Duray, Ousman Tourre, Nirmala Sharma, Peter Choyke, Pamela Stratton, Maria Merino, McClellan M. Walther, W. Marston Linehan, Laura S. Schmidt, Berton Zbar |
| 107-114 | Genomewide Linkage Analyses of Bipolar Disorder: A New Sample of 250 Pedigrees from the National Institute of Mental Health Genetics Initiative | Danielle M. Dick, Tatiana Foroud, Leah Flury, Elizabeth S. Bowman, Marvin J. Miller, N. Leela Rau, P. Ryan Moe, Nalini Samavedy, Rif El-Mallakh, Husseini Manji, Debra A. Glitz, Eric T. Meyer, Carrie Smiley, Rhoda Hahn, Clifford Widmark, Rebecca McKinney, Laura Sutton, Christos Ballas, Dorothy Grice, Wade Berrettini, et al. | |
| 115-130 | Selection of Genetic Markers for Association Analyses, Using Linkage Disequilibrium and Haplotypes | Zhaoling Meng, Dmitri V. Zaykin, Chun-Fang Xu, Michael Wagner, Margaret G. Ehm |
| 131-151 | Mutational Mechanisms of Williams-Beuren Syndrome Deletions | Mònica Bayés, Luis F. Magano, Núria Rivera, Raquel Flores, Luis A. Pérez Jurado |
| 152-161 | A Haplotype Implicated in Schizophrenia Susceptibility Is Associated with Reduced COMT | Nicholas J. Bray, Paul R. Buckland, Nigel M. Williams, Hywel J. Williams, Nadine Norton, Michael J. Owen, Michael C. O’Donovan |
| 162-173 | Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation | Makiko Yasuda, Junaid Shabbeer, Makiko Osawa, Robert J. Desnick |
| 174-187 | Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans | Dawn H. Siegel, Gabrielle H.S. Ashton, Homero G. Penagos, James V. Lee, Heidi S. Feiler, Kirk C. Wilhelmsen, Andrew P. South, Frances J.D. Smith, Alan R. Prescott, Vesarat Wessagowit, Noritaka Oyama, Masashi Akiyama, Daifullah Al Aboud, Khalid Al Aboud, Ahmad Al Githami, Khalid Al Hawsawi, Abla Al Ismaily, Raouf Al-Suwaid, David J. Atherton, Ruggero Caputo, et al. | |
| 188-197 | Crossover Interference in Humans | E.A. Housworth, F.W. Stahl |
| 198-204 | Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13 | Nazneen Rahman, Melanie Dunstan, M. Dawn Teare, Sandra Hanks, Jenny Douglas, Kim Coleman, William E. Bottomly, Mary E. Campbell, Britta Berglund, Magnus Nordenskjöld, Bengt Forssell, Nigel Burrows, Peter Lunt, Ian Young, Nigel Williams, Graham R. Bignell, P. Andrew Futreal, F. Michael Pope |
| 205-211 | IBD5 is a General Risk Factor for Inflammatory Bowel Disease: Replication of Association with Crohn Disease and Identification of a Novel Association with Ulcerative Colitis | Cosmas Giallourakis, Monika Stoll, Katie Miller, Jochen Hampe, Eric S. Lander, Mark J. Daly, Stefan Schreiber, John D. Rioux |
| 212-214 | Mutations in TNNT3 | Sandy S. Sung, Anna-Marie E. Brassington, Patrycja A. Krakowiak, John C. Carey, Lynn B. Jorde, Michael Bamshad |
| 214-217 | Haploinsufficiency of TNXB | Manon C. Zweers, Jim Bristow, Peter M. Steijlen, Willow B. Dean, Ben C. Hamel, Marisol Otero, Martina Kucharekova, Jan B. Boezeman, Joost Schalkwijk |
| 218-219 | DNA Microarrays: A Molecular Cloning Manual | Alain E. Lagarde |
| 219-220 | Babyface: A Story of Heart and Bones | Louise Acheson |
| 221-222 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 223-232 | Two-Locus Heterogeneity Cannot Be Distinguished from Two-Locus Epistasis on the Basis of Affected-Sib-Pair Data | Veronica J. Vieland, Jian Huang |
| 233-246 | Mutations in Novel Peroxin Gene PEX26 | Naomi Matsumoto, Shigehiko Tamura, Satomi Furuki, Non Miyata, Ann Moser, Nobuyuki Shimozawa, Hugo W. Moser, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki |
| 247-260 | Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia | Christine Keyser-Tracqui, Eric Crubézy, Bertrand Ludes |
| 261-270 | BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy | Deb K. Pal, Oleg V. Evgrafov, Paula Tabares, Fengli Zhang, Martina Durner, David A. Greenberg |
| 271-284 | A 3.9-Centimorgan-Resolution Human Single-Nucleotide Polymorphism Linkage Map and Screening Set | Tara C. Matise, Ravi Sachidanandam, Andrew G. Clark, Leonid Kruglyak, Ellen Wijsman, Jerzy Kakol, Steven Buyske, Buena Chui, Patrick Cohen, Claudia de Toma, Margaret Ehm, Stephen Glanowski, Chunsheng He, Jeremy Heil, Kyriacos Markianos, Ivy McMullen, Margaret A. Pericak-Vance, Arkadiy Silbergleit, Lincoln Stein, Michael Wagner, et al. | |
| 285-300 | Linkage Disequilibrium and Inference of Ancestral Recombination in 538 Single-Nucleotide Polymorphism Clusters across the Human Genome | Andrew G. Clark, Rasmus Nielsen, James Signorovitch, Tara C. Matise, Stephen Glanowski, Jeremy Heil, Emily S. Winn-Deen, Arthur L. Holden, Eric Lai |
| 301-313 | Localization of a Novel Melanoma Susceptibility Locus to 1p22 | Elizabeth Gillanders, Suh-Hang Hank Juo, Elizabeth A. Holland, MaryPat Jones, Derek Nancarrow, Diana Freas-Lutz, Raman Sood, Naeun Park, Mezbah Faruque, Carol Markey, Richard F. Kefford, Jane Palmer, Wilma Bergman, D. Timothy Bishop, Margaret A. Tucker, Brigitte Bressac-de Paillerets, Johan Hansson The Lund Melanoma Study Group, Mitchell Stark, Nelleke Gruis, Julia Newton Bishop, et al. | |
| 314-322 | Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1 | Suzanne Jan de Beur, Changlin Ding, Emily Germain-Lee, Justin Cho, Alexander Maret, Michael A. Levine |
| 323-335 | Localization of a Susceptibility Gene for Type 2 Diabetes to Chromosome 5q34–q35.2 | Inga Reynisdottir, Gudmar Thorleifsson, Rafn Benediktsson, Gunnar Sigurdsson, Valur Emilsson, Anna Sigurlin Einarsdottir, Eyrun Edda Hjorleifsdottir, Gudbjorg Th. Orlygsdottir, Gudrun Thora Bjornsdottir, Jona Saemundsdottir, Skarphedinn Halldorsson, Soffia Hrafnkelsdottir, Steinunn Bjorg Sigurjonsdottir, Svana Steinsdottir, Mitchell Martin, Jarema P. Kochan, Brian K. Rhees, Struan F.A. Grant, Michael L. Frigge, Augustine Kong, et al. | |
| 336-354 | Finding Haplotype Block Boundaries by Using the Minimum-Description-Length Principle | Eric C. Anderson, John Novembre |
| 355-369 | New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 | Te-Cheng Pan, Rui-Zhu Zhang, Dominick G. Sudano, Suely K. Marie, Carsten G. Bönnemann, Mon-Li Chu |
| 370-376 | Sequence Variants of the Brain-Derived Neurotrophic Factor (BDNF | Diana Hall, Alefiya Dhilla, Anna Charalambous, Joseph A. Gogos, Maria Karayiorgou |
| 377-382 | A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2 | Qing-he Xing, Xiang-dong Chen, Guo-yin Feng, Hong-yun Ji, Jian-dong Yang, Jian-jun Gao, Wei Qin, Xue-qing Qian, Sheng-nan Wu, Ming-tai Wang, Lin He |
| 383-389 | A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12.1-16q12.2 | Halah Abalkhail, John Mitchell, James Habgood, Richard Orrell, Jacqueline de Belleroche |
| 390-396 | Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q | Deborah M. Ruddy, Matthew J. Parton, Ammar Al-Chalabi, Cathryn M. Lewis, Caroline Vance, Bradley N. Smith, P. Nigel Leigh, John F. Powell, Teepu Siddique, Eelco Postumus Meyjes, Frank Baas, Vianney De Jong, Christopher E. Shaw |
| 397-403 | Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis | Peter C. Sapp, Betsy A. Hosler, Diane McKenna-Yasek, Wendy Chin, Amity Gann, Hilary Genise, Julie Gorenstein, Michael Huang, Wen Sailer, Meg Scheffler, Marianne Valesky, Jonathan L. Haines, Margaret Pericak-Vance, Teepu Siddique, H. Robert Horvitz, Robert H. Brown Jr. |
| 404-411 | Germline PTEN | Xiao-Ping Zhou, Kristin A. Waite, Robert Pilarski, Heather Hampel, Magali J. Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich, Ellen Matloff, Annette Patterson, Mary Ella Pierpont, Donna Russo, Najah T. Nassif, Charis Eng |
| 412-419 | Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia | Yves Pastore, Katerina Jedlickova, Yongli Guan, Enli Liu, James Fahner, Henrik Hasle, Jaroslav F. Prchal, Josef T. Prchal |
| 420-429 | African American Hypertensive Nephropathy Maps to a New Locus on Chromosome 9q31-q32 | Ki Wha Chung, Robert E. Ferrell, Demetrius Ellis, Michael Barmada, Michael Moritz, David N. Finegold, Ronald Jaffe, Abhay Vats |
| 430-437 | The International Psoriasis Genetics Study: Assessing Linkage to 14 Candidate Susceptibility Loci in a Cohort of 942 Affected Sib Pairs | The International Psoriasis Genetics Consortium |
| 438-440 | The Possibility of a Selection Process in the Ashkenazi Jewish Population | Joel Zlotogora, Gideon Bach |
| 440-441 | Selection in the Ashkenazi Jewish Population Unlikely—Reply to Zlotogora and Bach | Neil Risch, Hua Tang |
| 442-443 | Announcements | |
| 444 | Notice of Retraction | Stephen T. Warren |
| 445 | Erratum | |
| 445 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| iii | Notice of Policy | Stephen T. Warren |
| 447-474 | Genetic Disorders of the Skeleton: A Developmental Approach | Uwe Kornak, Stefan Mundlos |
| 475-488 | Miller-Dieker Syndrome: Analysis of a Human Contiguous Gene Syndrome in the Mouse | Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris |
| 489-501 | Natural Selection on the Olfactory Receptor Gene Family in Humans and Chimpanzees | Yoav Gilad, Carlos D. Bustamante, Doron Lancet, Svante Pääbo |
| 502-515 | Assessing the Performance of the Haplotype Block Model of Linkage Disequilibrium | Jeffrey D. Wall, Jonathan K. Pritchard |
| 516-523 | Estimation of the Inbreeding Coefficient through Use of Genomic Data | Anne-Louise Leutenegger, Bernard Prum, Emmanuelle Génin, Christophe Verny, Arnaud Lemainque, Françoise Clerget-Darpoux, Elizabeth A. Thompson |
| 524-539 | Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas | Maria-Catira Bortolini, Francisco M. Salzano, Mark G. Thomas, Steven Stuart, Selja P.K. Nasanen, Claiton H.D. Bau, Mara H. Hutz, Zulay Layrisse, Maria L. Petzl-Erler, Luiza T. Tsuneto, Kim Hill, Ana M. Hurtado, Dinorah Castro-de-Guerra, Maria M. Torres, Helena Groot, Roman Michalski, Pagbajabyn Nymadawa, Gabriel Bedoya, Neil Bradman, Damian Labuda, et al. | |
| 540-550 | Age-Related Macular Degeneration—a Genome Scan in Extended Families | Jacek Majewski, Dennis W. Schultz, Richard G. Weleber, Mitchell B. Schain, Albert O. Edwards, Tara C. Matise, Ted S. Acott, Jurg Ott, Michael L. Klein |
| 551-565 | Selection and Evaluation of Tagging SNPs in the Neuronal-Sodium-Channel Gene SCN1A: | Mike E. Weale, Chantal Depondt, Stuart J. Macdonald, Alice Smith, Poh San Lai, Simon D. Shorvon, Nicholas W. Wood, David B. Goldstein |
| 566-579 | Transmission/Disequilibrium Test Based on Haplotype Sharing for Tightly Linked Markers | Shuanglin Zhang, Qiuying Sha, Huann-Sheng Chen, Jianping Dong, Renfang Jiang |
| 580-590 | An Integrated Haplotype Map of the Human Major Histocompatibility Complex | Emily C. Walsh, Kristie A. Mather, Stephen F. Schaffner, Lisa Farwell, Mark J. Daly, Nick Patterson, Michael Cullen, Mary Carrington, Teodorica L. Bugawan, Henry Erlich, Jay Campbell, Jeffrey Barrett, Katie Miller, Glenys Thomson, Eric S. Lander, John D. Rioux |
| 591-600 | Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster | E.J. Hollox, J.A.L. Armour, J.C.K. Barber |
| 601-611 | Genomewide Linkage Scan for Schizophrenia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 10q22 | M. Daniele Fallin, Virginia K. Lasseter, Paula S. Wolyniec, John A. McGrath, Gerald Nestadt, David Valle, Kung-Yee Liang, Ann E. Pulver |
| 612-626 | Novel Case-Control Test in a Founder Population Identifies P-Selectin as an Atopy-Susceptibility Locus | Catherine Bourgain, Sabine Hoffjan, Raluca Nicolae, Dina Newman, Lori Steiner, Karen Walker, Rebecca Reynolds, Carole Ober, Mary Sara McPeek |
| 627-631 | ACTN3 | Nan Yang, Daniel G. MacArthur, Jason P. Gulbin, Allan G. Hahn, Alan H. Beggs, Simon Easteal, Kathryn North |
| 632-637 | A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 | C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing, J.D. Pollard, G.A. Nicholson |
| 638-645 | MC1R | Richard A. King, Rebecca K. Willaert, Ramona M. Schmidt, Jacy Pietsch, Sarah Savage, Marcia J. Brott, James P. Fryer, C. Gail Summers, William S. Oetting |
| 646-651 | Effects of Electron-Beam Irradiation on Buccal-Cell DNA | Philip E. Castle, Montserrat Garcia-Closas, Tracie Franklin, Stephen Chanock, Vinita Puri, Robert Welch, Nathaniel Rothman, Jim Vaught |
| 652-655 | A Full-Likelihood Method for the Evaluation of Causality of Sequence Variants from Family Data | Deborah Thompson, Douglas F. Easton, David E. Goldgar |
| 656-662 | Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3 | Lesley C. Keeler, Sarah E. Marsh, Esther P. Leeflang, Christopher G. Woods, László Sztriha, Lihadh Al-Gazali, Aithala Gururaj, Joseph G. Gleeson |
| 663-670 | Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation | Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola |
| 671-676 | Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences | Qing-Peng Kong, Yong-Gang Yao, Chang Sun, Hans-Jürgen Bandelt, Chun-Ling Zhu, Ya-Ping Zhang |
| 677-681 | CARD15: a Pleiotropic Autoimmune Gene That Confers Susceptibility to Psoriatic Arthritis | P. Rahman, S. Bartlett, F. Siannis, F.J. Pellett, V.T. Farewell, L. Peddle, C.T. Schentag, C.A. Alderdice, S. Hamilton, M. Khraishi, Y. Tobin, D. Hefferton, D.D. Gladman |
| 682-687 | A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study | Jian-Liang Li, Michael R. Hayden, Elisabeth W. Almqvist, Ryan R. Brinkman, Alexandra Durr, Catherine Dodé, Patrick J. Morrison, Oksana Suchowersky, Christopher A. Ross, Russell L. Margolis, Adam Rosenblatt, Estrella Gómez-Tortosa, David Mayo Cabrero, Andrea Novelletto, Marina Frontali, Martha Nance, Ronald J.A. Trent, Elizabeth McCusker, Randi Jones, Jane S. Paulsen, et al. | |
| 688-692 | Dependence of Mutational Asymmetry on Gene-Expression Levels in the Human Genome | Jacek Majewski |
| 693-699 | Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria | Yoshinori Miyamura, Tamio Suzuki, Michihiro Kono, Katsuhiko Inagaki, Shiro Ito, Noriyuki Suzuki, Yasushi Tomita |
| 700-705 | A Novel Y-Chromosome Variant Puts an Upper Limit on the Timing of First Entry into the Americas | Mark Seielstad, Nadira Yuldasheva, Nadia Singh, Peter Underhill, Peter Oefner, Peidong Shen, R. Spencer Wells |
| 706 | Reflections of Our Past: How Human History Is Revealed in Our Genes | Francisco M. Salzano |
| 707-708 | Announcements | |
| 709 | ERRATUM | |
| 709 | ERRATUM | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 711-719 | “Are We There Yet”: Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits | Grier P. Page, Varghese George, Rodney C. Go, Patricia Z. Page, David B. Allison |
| 720-735 | HLA-DRB1*1101 | Milton D. Rossman, Bruce Thompson, Margaret Frederick, Mary Maliarik, Michael C. Iannuzzi, Benjamin A. Rybicki, Janardan P. Pandey, Lee S. Newman, Eleni Magira, Bojana Beznik-Cizman, Dimitri Monos and ACCESS Group |
| 736-747 | Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families | Yaron Tomer, Yoshiyuki Ban, Erlinda Concepcion, Giuseppe Barbesino, Ronald Villanueva, David A. Greenberg, Terry F. Davies |
| 748-767 | Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions | Brian J. Miller, Daolong Wang, Ralf Krahe, Fred A. Wright |
| 768-779 | Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries | Doron M. Behar, Mark G. Thomas, Karl Skorecki, Michael F. Hammer, Ekaterina Bulygina, Dror Rosengarten, Abigail L. Jones, Karen Held, Vivian Moses, David Goldstein, Neil Bradman, Michael E. Weale |
| 780-790 | A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions | Johanna M. Seddon, Susan L. Santangelo, Kathryn Book, Sandy Chong, Jennifer Cote |
| 791-800 | Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis | Sandra Hanks, Sarah Adams, Jenny Douglas, Laura Arbour, David J. Atherton, Sevim Balci, Harald Bode, Mary E. Campbell, Murray Feingold, Gökhan Keser, Wim Kleijer, Grazia Mancini, John A. McGrath, Francesco Muntoni, Arti Nanda, M. Dawn Teare, Matthew Warman, F. Michael Pope, Andrea Superti-Furga, P. Andrew Futreal, et al. | |
| 801-811 | Using the Noninformative Families in Family-Based Association Tests: A Powerful New Testing Strategy | Christoph Lange, Dawn DeMeo, Edwin K. Silverman, Scott T. Weiss, Nan M. Laird |
| 812-822 | Genomewide Linkage and Linkage Disequilibrium Analyses Identify COL6A1, | Toshihiro Tanaka, Katsunori Ikari, Kozo Furushima, Akihiro Okada, Hiroshi Tanaka, Ken-Ichi Furukawa, Kenichi Yoshida, Toshiyuki Ikeda, Shiro Ikegawa, Steven C. Hunt, Jun Takeda, Satoshi Toh, Seiko Harata, Toshiaki Nakajima, Ituro Inoue |
| 823-834 | An Alu | Jeffrey A. Bailey, Ge Liu, Evan E. Eichler |
| 835-848 | Confirmation of the Type 2 Myotonic Dystrophy (CCTG)n | Linda L. Bachinski, Bjarne Udd, Giovanni Meola, Valeria Sansone, Guillaume Bassez, Bruno Eymard, Charles A. Thornton, Richard T. Moxley, Peter S. Harper, Mark T. Rogers, Karin Jurkat-Rott, Frank Lehmann-Horn, Thomas Wieser, Josep Gamez, Carmen Navarro, Armand Bottani, Andre Kohler, Mark D. Shriver, Riitta Sallinen, Maija Wessman, et al. | |
| 849-862 | Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract | Christina L. Liquori, Yoshio Ikeda, Marcy Weatherspoon, Kenneth Ricker, Benedikt G.H. Schoser, Joline C. Dalton, John W. Day, Laura P.W. Ranum |
| 863-873 | Recent Advances in Human Quantitative-Trait–Locus Mapping: Comparison of Methods for Selected Sibling Pairs | Karen T.Cuenco, Jin P. Szatkiewicz, Eleanor Feingold |
| 874-885 | Recent Advances in Human Quantitative-Trait–Locus Mapping: Comparison of Methods for Discordant Sibling Pairs | Jin P. Szatkiewicz, Karen T.Cuenco, Eleanor Feingold |
| 886-897 | A Genomewide Screen of 345 Families for Autism-Susceptibility Loci | Amanda L. Yonan, Maricela Alarcón, Rong Cheng, Patrik K.E. Magnusson, Sarah J. Spence, Abraham A. Palmer, Adina Grunn, Suh-Hang Hank Juo, Joseph D. Terwilliger, Jianjun Liu, Rita M. Cantor, Daniel H. Geschwind, T. Conrad Gilliam |
| 898-925 | Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons | J-H. Chai, D.P. Locke, J.M. Greally, J.H.M. Knoll, T. Ohta, J. Dunai, A. Yavor, E.E. Eichler, R.D. Nicholls |
| 926-932 | Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10 | Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, Eva Nelis, An Zwijsen, Nathalie Verpoorten, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Annick Francis, Chantal Ceuterick, Danny Huylebroeck, Vincent Timmerman |
| 933-938 | Genomic Imprinting and Linkage Test for Quantitative-Trait Loci in Extended Pedigrees | Sanjay Shete, Xiaojun Zhou, Christopher I. Amos |
| 939-947 | The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm | Rivka L. Glaser, Karl W. Broman, Rebecca L. Schulman, Brenda Eskenazi, Andrew J. Wyrobek, Ethylin Wang Jabs |
| 948-956 | Loss of CpG Methylation Is Strongly Correlated with Loss of Histone H3 Lysine 9 Methylation at DMR-LIT1 in Patients with Beckwith-Wiedemann Syndrome | Ken Higashimoto, Takeshi Urano, Kazumitsu Sugiura, Hitomi Yatsuki, Keiichiro Joh, Wei Zhao, Mayumi Iwakawa, Hirofumi Ohashi, Mitsuo Oshimura, Norio Niikawa, Tsunehiro Mukai, Hidenobu Soejima |
| 957-966 | Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis | Oonagh Dowling, Analisa Difeo, Maria C. Ramirez, Turgut Tukel, Goutham Narla, Luisa Bonafe, Hulya Kayserili, Memnune Yuksel-Apak, Amy S. Paller, Karen Norton, Ahmad S. Teebi, Valerie Grum-Tokars, Gail S. Martin, George E. Davis, Marc J. Glucksman, John A. Martignetti |
| 967-971 | NIPA1 | Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D. Nicholls, John K. Fink |
| 972-974 | SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6 | Anna Sulek, Dorota Hoffman-Zacharska, Elzbieta Zdzienicka, Jacek Zaremba |
| 974-975 | Erroneous Claims about the Impact of Mitochondrial DNA Sequence Database Errors | Agnar Helgason, Kári Stefánsson |
| 976-978 | Announcements | |
| 979 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 981-985 | David M. Danks, M.D., A.O. (June 4, 1931–July 8, 2003):Founder, Murdoch Childrens Research Institute | K. H. Andy Choo |
| 986-993 | Localization of a Gene for Migraine without Aura to Chromosome 4q21 | Ásgeir Björnsson, Grétar Gudmundsson, Einar Gudfinnsson, María Hrafnsdóttir, John Benedikz, Svanhildur Skúladóttir, Kristleifur Kristjánsson, Michael L. Frigge, Augustine Kong, Kári Stefánsson, Jeffrey R. Gulcher |
| 994-1015 | Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity | Ewa Ziętkiewicz, Vania Yotova, Dominik Gehl, Tina Wambach, Isabel Arrieta, Mark Batzer, David E.C. Cole, Peter Hechtman, Feige Kaplan, David Modiano, Jean-Paul Moisan, Roman Michalski, Damian Labuda |
| 1016-1026 | Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes | Eden R. Martin, Meredyth P. Bass, Elizabeth R. Hauser, Norman L. Kaplan |
| 1027-1040 | Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients | Regina E. Ensenauer, Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D. Brian Dawson, Erik C. Thorland, Cindy Pham Lorentz, Jennifer L. Goldstein, Marie T. McDonald, Wendy E. Smith, Elba Simon-Fayard, Alan A. Alexander, Anita S. Kulharya, Rhett P. Ketterling, Robin D. Clark, Syed M. Jalal |
| 1041-1051 | Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22 | William K. Scott, Elizabeth R. Hauser, Donald E. Schmechel, Kathleen A. Welsh-Bohmer, Gary W. Small, Allen D. Roses, Ann M. Saunders, John R. Gilbert, Jeffery M. Vance, Jonathan L. Haines, Margaret A. Pericak-Vance |
| 1052-1060 | A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar | Bruno Bucheton, Laurent Abel, Sayda El-Safi, Musa M. Kheir, Sylvana Pavek, Arnaud Lemainque, Alain J. Dessein |
| 1061-1072 | Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity | S.E. Roberts, F. Maggouta, N.S. Thomas, P.A. Jacobs, J.A. Crolla |
| 1073-1081 | Genomewide Distribution of High-Frequency, Completely Mismatching SNP Haplotype Pairs Observed To Be Common across Human Populations | Jinghui Zhang, William L. Rowe, Andrew G. Clark, Kenneth H. Buetow |
| 1082-1091 | Mutations in the γ-Actin Gene (ACTG1 | M. Zhu, T. Yang, S. Wei, A.T. DeWan, R.J. Morell, J.L. Elfenbein, R.A. Fisher, S.M. Leal, R. J.H. Smith, K.H. Friderici |
| 1092-1105 | Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells | Zhi Yang, Rachel Lau, Julien L. Marcadier, David Chitayat, Christopher E. Pearson |
| 1106-1119 | Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy | Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H.G. Verheijen, Greg Lemke, Esra Battaloglu, Yesim Parman, Sevim Erdem, Ersin Tan, Haluk Topaloglu, Andreas Hahn, Wolfgang Müller-Felber, Nicolò Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, et al. | |
| 1120-1130 | Mutations in a Novel Gene, NHS, | Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, et al. | |
| 1131-1146 | RP2 | Dror Sharon, Michael A. Sandberg, Vivian W. Rabe, Melissa Stillberger, Thaddeus P. Dryja, Eliot L. Berson |
| 1147-1156 | Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia | Michael A. Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A. Patton, Andrew H. Crosby |
| 1157-1161 | Missense Mutations in hMLH1 | Ivan P. Gorlov, Olga Y. Gorlova, Marsha L. Frazier, Christopher I. Amos |
| 1162-1169 | A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data | Matthew Stephens, Peter Donnelly |
| 1170-1177 | Protein-Truncating Mutations in ASPM | Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc J. Abramowicz, Ganesh H. Mochida, Raoul C.M. Hennekam, Eamonn R. Maher, Jean-Pierre Fryns, Abdulrahman Alswaid, Hussain Jafri, Yasmin Rashid, Ammar Mubaidin, Christopher A. Walsh, Emma Roberts, C. Geoffrey Woods |
| 1178-1190 | Origin and Diffusion of mtDNA Haplogroup X | Maere Reidla, Toomas Kivisild, Ene Metspalu, Katrin Kaldma, Kristiina Tambets, Helle-Viivi Tolk, Jüri Parik, Eva-Liis Loogväli, Miroslava Derenko, Boris Malyarchuk, Marina Bermisheva, Sergey Zhadanov, Erwan Pennarun, Marina Gubina, Maria Golubenko, Larisa Damba, Sardana Fedorova, Vladislava Gusar, Elena Grechanina, Ilia Mikerezi, et al. | |
| 1191-1198 | Germline Inactivation of PTEN | Xiao-Ping Zhou, Deborah J. Marsh, Carl D. Morrison, Abhik R. Chaudhury, Marius Maxwell, Guido Reifenberger, Charis Eng |
| 1199-1207 | eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs | Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk |
| 1208-1212 | Meta-Analysis and a Large Association Study Confirm a Role for Calpain-10 Variation in Type 2 Diabetes Susceptibility | Michael N. Weedon, Peter E.H. Schwarz, Yukio Horikawa, Naoko Iwasaki, Thomas Illig, Rolf Holle, Wolfgang Rathmann, Thomas Selisko, Jan Schulze, Katherine R. Owen, Julie Evans, Laura del Bosque-Plata, Graham Hitman, Mark Walker, Jonathan C. Levy, Mike Sampson, Graeme I. Bell, Mark I. McCarthy, Andrew T. Hattersley, Timothy M. Frayling |
| 1213 | Sequence Analysis in a Nutshell: A Guide to Common Tools and Databases | Kim Worley |
| 1214-1216 | Announcements | |
| i-vi | Editorial Reviewers for 2003 | |
| vii-viii | This Month in the Journal | Kathryn Garber |
| 1217-1239 | Cockayne Syndrome Group B Cellular and Biochemical Functions | Cecilie Löe Licht, Tinna Stevnsner, Vilhelm A. Bohr |
| 1240-1249 | Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 | Iiro Eerola, Laurence M. Boon, John B. Mulliken, Patricia E. Burrows, Anne Dompmartin, Shoji Watanabe, Romain Vanwijck, Miikka Vikkula |
| 1250-1260 | Genetic Anthropology of the Colorectal Cancer–Susceptibility Allele APC | Bethany L. Niell, Jeffrey C. Long, Gad Rennert, Stephen B. Gruber |
| 1261-1270 | Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities | Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa, Irene M. Janssen, Ton Feuth, Chik On Choy, Huub Straatman, Walter van der Vliet, Erik H.L.P.G. Huys, Anke van Rijk, Dominique Smeets, Conny M.A. van Ravenswaaij-Arts, Nine V. Knoers, Ineke van der Burgt, Pieter J. de Jong, Han G. Brunner, Ad Geurts van Kessel, Eric F.P.M. Schoenmakers, Joris A. Veltman |
| 1271-1281 | Predisposition Locus for Major Depression at Chromosome 12q22-12q23.2 | Victor Abkevich, Nicola J. Camp, Charles H. Hensel, Chris D. Neff, Deanna L. Russell, Dana C. Hughes, Agnes M. Plenk, Michael R. Lowry, R. Lynn Richards, Catherine Carter, Georges C. Frech, Steven Stone, Kerry Rowe, Chi Ai Chau, Kathleen Cortado, Angelene Hunt, Karanina Luce, Gayanne O’Neil, Jeff Poarch, Jennifer Potter, et al. | |
| 1282-1292 | MDR1 | Steven R. Brant, Carolien I.M. Panhuysen, Dan Nicolae, Deepthi M. Reddy, Denise K. Bonen, Reda Karaliukas, Leilei Zhang, Eric Swanson, Lisa W. Datta, Thomas Moran, Geoffrey Ravenhill, Richard H. Duerr, Jean-Paul Achkar, Amir S. Karban, Judy H. Cho |
| 1293-1301 | A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting | Dominik Müller, P. Jaya Kausalya, Felix Claverie-Martin, Iwan C. Meij, Paul Eggert, Victor Garcia-Nieto, Walter Hunziker |
| 1302-1315 | Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 | Weimin Bi, Sung-Sup Park, Christine J. Shaw, Marjorie A. Withers, Pragna I. Patel, James R. Lupski |
| 1316-1329 | Inference on Haplotype Effects in Case-Control Studies Using Unphased Genotype Data | Michael P. Epstein, Glen A. Satten |
| 1330-1340 | Comparative Linkage-Disequilibrium Analysis of the β-Globin Hotspot in Primates | Jeffrey D. Wall, Linda A. Frisse, Richard R. Hudson, Anna Di Rienzo |
| 1341-1354 | Mutations in the ZNF41 | Sarah A. Shoichet, Kirsten Hoffmann, Corinna Menzel, Udo Trautmann, Bettina Moser, Maria Hoeltzenbein, Bernard Echenne, Michael Partington, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Hans-Dieter Rott, Hans-Hilger Ropers, Vera M. Kalscheuer |
| 1355-1367 | A Systematic Genomewide Linkage Study in 353 Sib Pairs with Schizophrenia | N.M. Williams, N. Norton, H. Williams, B. Ekholm, M.L. Hamshere, Y. Lindblom, K.V. Chowdari, A.G. Cardno, S. Zammit, L.A. Jones, K.C. Murphy, R.D. Sanders, G. McCarthy, M.Y. Gray, G. Jones, P. Holmans, V. Nimgaonkar, R. Adolfson, U. Ösby, L. Terenius, et al. | |
| 1385-1401 | Search for Haplotype Interactions That Influence Susceptibility to Type 1 Diabetes, through Use of Unphased Genotype Data | Jian Zhang, Faming Liang, Willem R.M. Dassen, Pieter A. Doevendans, Mathisca de Gunst |
| 1402-1422 | Informativeness of Genetic Markers for Inference of Ancestry | Noah A. Rosenberg, Lei M. Li, Ryk Ward, Jonathan K. Pritchard |
| 1423-1430 | Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 | Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A.A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman |
| 1431-1437 | Allelic Heterogeneity in LINE-1 Retrotransposition Activity | Sheila M. Lutz, Bethaney J. Vincent, Haig H. Kazazian Jr, Mark A. Batzer, John V. Moran |
| 1438-1443 | The DTNBP1 | Ann Van Den Bogaert, Johannes Schumacher, Thomas G. Schulze, Andreas C. Otte, Stephanie Ohlraun, Svetlana Kovalenko, Tim Becker, Jan Freudenberg, Erik G. Jönsson, Marja Mattila-Evenden, Göran C. Sedvall, Piotr M. Czerski, Pawel Kapelski, Joanna Hauser, Wolfgang Maier, Marcella Rietschel, Peter Propping, Markus M. Nöthen, Sven Cichon |
| 1444-1451 | SVA Elements Are Nonautonomous Retrotransposons that Cause Disease in Humans | Eric M. Ostertag, John L. Goodier, Yue Zhang, Haig H. Kazazian Jr |
| 1452-1458 | Prevalence and Evolutionary Origins of the del(GJB6 | Ignacio del Castillo, Miguel A. Moreno-Pelayo, Francisco J. del Castillo, Zippora Brownstein, Sandrine Marlin, Quint Adina, David J. Cockburn, Arti Pandya, Kirby R. Siemering, G. Parker Chamberlin, Ester Ballana, Wim Wuyts, Andréa Trevas Maciel-Guerra, Araceli Álvarez, Manuela Villamar, Mordechai Shohat, Dvorah Abeliovich, Hans-Henrik M. Dahl, Xavier Estivill, Paolo Gasparini, et al. | |
| 1459-1464 | Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations | Christina L. Liquori, Michel J. Berg, Adrian M. Siegel, Elizabeth Huang, Jon S. Zawistowski, T’Prien Stoffer, Dominique Verlaan, Fiyinfolu Balogun, Lori Hughes, Tracey P. Leedom, Nicholas W. Plummer, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Eric W. Johnson, Guy A. Rouleau, Louis Ptacek, Douglas A. Marchuk |
| 1465-1466 | Further Evidence of IBD5/CARD15 (NOD2) | Dermot P.B. McGovern, David A. van Heel, Kenichi Negoro, Tariq Ahmad, Derek P. Jewell |
| 1467-1468 | Reports of the Death of the Epistasis Model Are Greatly Exaggerated | Martin Farrall |
| 1468-1470 | Affected-Sib-Pair Data Can Be Used to Distinguish Two-Locus Heterogeneity from Two-Locus Epistasis | Heather J. Cordell |
| 1470 | Erratum | |
| 1471-1473 | Reply to Cordell and Farrall | Veronica J. Vieland, Jian Huang |
| 1474-1476 | Announcements | |
| 1477 | Erratum | |
| 1368-1384 | Fine-Scale Mapping of Disease Genes with Multiple Mutations via Spatial Clustering Techniques | John Molitor, Paul Marjoram, Duncan Thomas |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-10 | The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats | Aikaterini Barbouti, Pawel Stankiewicz, Chad Nusbaum, Christina Cuomo, April Cook, Mattias Höglund, Bertil Johansson, Anne Hagemeijer, Sung-Sup Park, Felix Mitelman, James R. Lupski, Thoas Fioretos |
| 11-19 | The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval | Alexander Zimprich, Bertram Müller-Myhsok, Matthew Farrer, Petra Leitner, Manu Sharma, Mary Hulihan, Paul Lockhart, Audrey Strongosky, Jennifer Kachergus, Donald B. Calne, Jon Stoessl, Ryan J. Uitti, Ronald F. Pfeiffer, Claudia Trenkwalder, Nikolaus Homann, Erwin Ott, Karoline Wenzel, Friedrich Asmus, John Hardy, Zbigniew Wszolek, et al. | |
| 20-39 | Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration | Sudha K. Iyengar, Danhong Song, Barbara E.K. Klein, Ronald Klein, James H. Schick, Jennifer Humphrey, Christopher Millard, Rachel Liptak, Karlie Russo, Gyungah Jun, Kristine E. Lee, Bonnie Fijal, Robert C. Elston |
| 40-49 | Population-Genetic Basis of Haplotype Blocks in the 5q31 Region | Eric C. Anderson, Montgomery Slatkin |
| 50-61 | The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time | Lev A. Zhivotovsky, Peter A. Underhill, Cengiz Cinnioğlu, Manfred Kayser, Bharti Morar, Toomas Kivisild, Rosaria Scozzari, Fulvio Cruciani, Giovanni Destro-Bisol, Gabriella Spedini, Geoffrey K. Chambers, Rene J. Herrera, Kiau Kiun Yong, David Gresham, Ivailo Tournev, Marcus W. Feldman, Luba Kalaydjieva |
| 62-72 | Evidence for Extensive Transmission Distortion in the Human Genome | Sebastian Zöllner, Xiaoquan Wen, Neil A. Hanchard, Mark A. Herbert, Carole Ober, Jonathan K. Pritchard |
| 73-82 | Linkage at 12q24 with Systemic Lupus Erythematosus (SLE) Is Established and Confirmed in Hispanic and European American Families | Swapan K. Nath, Ana I. Quintero-Del-Rio, Jeff Kilpatrick, Lourdes Feo, Maria Ballesteros, John B. Harley |
| 83-92 | Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense | Annemieke Aartsma-Rus, Anneke A.M. Janson, Wendy E. Kaman, Mattie Bremmer-Bout, Gert-Jan B. van Ommen, Johan T. den Dunnen, Judith C.T. van Deutekom |
| 93-105 | Identification and Functional Analysis of ZIC3 | Stephanie M. Ware, Jianlan Peng, Lirong Zhu, Susan Fernbach, Suzanne Colicos, Brett Casey, Jeffrey Towbin, John W. Belmont |
| 106-120 | Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium | Christopher S. Carlson, Michael A. Eberle, Mark J. Rieder, Qian Yi, Leonid Kruglyak, Deborah A. Nickerson |
| 121-127 | The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital | Shawn E. McCandless, Jeanne W. Brunger, Suzanne B. Cassidy |
| 128-138 | Mutation of CERKL, | Miquel Tuson, Gemma Marfany, Roser Gonzàlez-Duarte |
| 139-152 | Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family | Hui Zhao, Ronghua Li, Qiuju Wang, Qingfeng Yan, Jian-Hong Deng, Dongyi Han, Yidong Bai, Wie-Yen Young, Min-Xin Guan |
| 153-159 | Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB- | Sakari Vanharanta, Mary Buchta, Sarah R. McWhinney, Sanna K. Virta, Mariola Peçzkowska, Carl D. Morrison, Rainer Lehtonen, Andrzej Januszewicz, Heikki Järvinen, Matti Juhola, Jukka-Pekka Mecklin, Eero Pukkala, Riitta Herva, Maija Kiuru, Nina N. Nupponen, Lauri A. Aaltonen, Hartmut P.H. Neumann, Charis Eng |
| 160-167 | Mapping Multiple Sclerosis Susceptibility to the HLA-DR | Jorge R. Oksenberg, Lisa F. Barcellos, Bruce A.C. Cree, Sergio E. Baranzini, Teodorica L. Bugawan, Omar Khan, Robin R. Lincoln, Amy Swerdlin, Emmanuel Mignot, Ling Lin, Douglas Goodin, Henry A. Erlich, Silke Schmidt, Glenys Thomson, David E. Reich, Margaret A. Pericak-Vance, Jonathan L. Haines, Stephen L. Hauser |
| 168-175 | A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene | Alexandra M. Dumitrescu, Xiao-Hui Liao, Thomas B. Best, Knut Brockmann, Samuel Refetoff |
| 176-179 | Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign | Joshua D. Groman, Timothy W. Hefferon, Teresa Casals, Lluís Bassas, Xavier Estivill, Marie Des Georges, Caroline Guittard, Monika Koudova, M. Daniele Fallin, Krisztina Nemeth, Gyorgy Fekete, Ludovit Kadasi, Ken Friedman, Martin Schwarz, Cristina Bombieri, Pier Franco Pignatti, Emmanuel Kanavakis, Maria Tzetis, Marianne Schwartz, Giuseppe Novelli, et al. | |
| 180-187 | A Large AZFc Deletion Removes DAZ3/DAZ4 | S. Fernandes, S. Paracchini, L.H. Meyer, G. Floridia, C. Tyler-Smith, P.H. Vogt |
| 188-191 | Novel Vitiligo Susceptibility Loci on Chromosomes 7 (AIS2 | Richard A. Spritz, Katherine Gowan, Dorothy C. Bennett, Pamela R. Fain |
| 192-193 | Hormones, Genes, and Cancer | Mustafa Ozen |
| 194-196 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 197-207 | Both Rare and Common Polymorphisms Contribute Functional Variation at CHGA, | Gen Wen, Sushil K. Mahata, Peter Cadman, Manjula Mahata, Sajalendu Ghosh, Nitish R. Mahapatra, Fangwen Rao, Mats Stridsberg, Douglas W. Smith, Payam Mahboubi, Nicholas J. Schork, Daniel T. O’Connor, Bruce A. Hamilton |
| 208-222 | Are Variants in the CAPN10 | Yiqing Song, Tianhua Niu, JoAnn E. Manson, David J. Kwiatkowski, Simin Liu |
| 223-228 | Confirmation of Linkage to Chromosome 1q for Peak Vertebral Bone Mineral Density in Premenopausal White Women | Michael J. Econs, Daniel L. Koller, Siu L. Hui, Tonya Fishburn, P. Michael Conneally, C. Conrad Johnston Jr., Munro Peacock, Tatiana M. Foroud |
| 229-238 | Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection | J.L. Elson, D.M. Turnbull, Neil Howell |
| 239-252 | Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1 | Valeria Tiranti, Pio D’Adamo, Egill Briem, Gianfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, Maria-Teresa Garcia-Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi-Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani |
| 253-261 | Genomewide Linkage Analysis for Internal Carotid Artery Intimal Medial Thickness: Evidence for Linkage to Chromosome 12 | Caroline S. Fox, L. Adrienne Cupples, Irmarie Chazaro, Joseph F. Polak, Philip A. Wolf, Ralph B. D’Agostino, Jose M. Ordovas, Christopher J. O’Donnell |
| 262-271 | Premature Myocardial Infarction Novel Susceptibility Locus on Chromosome 1P34-36 Identified by Genomewide Linkage Analysis | Qing Wang, Shaoqi Rao, Gong-Qing Shen, Lin Li, David J. Moliterno, L. Kristin Newby, William J. Rogers, Ruth Cannata, Erich Zirzow, Robert C. Elston, Eric J. Topol |
| 272-282 | Evidence of a Novel Quantitative-Trait Locus for Obesity on Chromosome 4p in Mexican Americans | Rector Arya, Ravindranath Duggirala, Christopher P. Jenkinson, Laura Almasy, John Blangero, Peter O’Connell, Michael P. Stern |
| 283-297 | Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and Reading | Catherine M. Stein, James H. Schick, H. Gerry Taylor, Lawrence D. Shriberg, Christopher Millard, Amy Kundtz-Kluge, Karlie Russo, Nori Minich, Amy Hansen, Lisa A. Freebairn, Robert C. Elston, Barbara A. Lewis, Sudha K. Iyengar |
| 298-305 | Null Leukemia Inhibitory Factor Receptor (LIFR | Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean-Luc Taupin, Jean-François Moreau, Andrea Superti-Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire |
| 306-316 | Inherent Bias toward the Null Hypothesis in Conventional Multipoint Nonparametric Linkage Analysis | Nicholas J. Schork, Tiffany A. Greenwood |
| 317-325 | Matching Strategies for Genetic Association Studies in Structured Populations | David A. Hinds, Renee P. Stokowski, Nila Patil, Karel Konvicka, David Kershenobich, David R. Cox, Dennis G. Ballinger |
| 326-337 | Mutations within the MGC4607 | C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A. Cousin, A.L. Benabid, J. Comoy, P. Frerebeau, B. Gilbert, J.P. Houtteville, M. Jan, F. Lapierre, H. Loiseau, P. Menei, P. Mercier, J.J. Moreau, A. Nivelon-Chevallier, F. Parker, A.M. Redondo, et al. | |
| 338-347 | Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Signaling Pathway | Anne Joutel, Marie Monet, Valérie Domenga, Florence Riant, Elisabeth Tournier-Lasserve |
| 348-356 | Joint Analysis of the DRD5 | Naomi Lowe, Aiveen Kirley, Ziarih Hawi, Pak Sham, Harvey Wickham, Christopher J. Kratochvil, Shelley D. Smith, Saretta Y. Lee, Florence Levy, Lindsey Kent, Fiona Middle, Luis A. Rohde, Tatiana Roman, Eda Tahir, Yanke Yazgan, Philip Asherson, Jonathan Mill, Anita Thapar, Antony Payton, Richard D. Todd, et al. | |
| 357-366 | Mutations in the VLGR1 | Michael D. Weston, Mirjam W.J. Luijendijk, Kurt D. Humphrey, Claes Möller, William J. Kimberling |
| 367-369 | PBAT: Tools for Family-Based Association Studies | Christoph Lange, Dawn DeMeo, Edwin K. Silverman, Scott T. Weiss, Nan M. Laird |
| 370-371 | Announcements | |
| 372 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 373 | 2003 Cotterman Award Winners | |
| 374-381 | Genetics, Individuality, and Medicine in the 21st Century | David Valle |
| 382-384 | Introductory Speech for Sir David Weatherall | Yuet Wai Kan |
| 385-392 | The Thalassemias: The Role of Molecular Genetics in an Evolving Global Health Problem | David Weatherall |
| 393-394 | Introductory Speech for Joan Marks | Arno G. Motulsky |
| 395-396 | The Importance of Genetic Counseling | Joan H. Marks |
| 397-398 | Introductory Speech for David Page | Huntington F. Willard |
| 399-402 | On Low Expectations Exceeded; or, The Genomic Salvation of the Y Chromosome | David C. Page |
| 403-417 | Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1 | Gonçalo R. Abecasis, Rachel A. Burt, Diana Hall, Sylvia Bochum, Kimberly F. Doheny, S. Laura Lundy, Marie Torrington, J. Louw Roos, Joseph A. Gogos, Maria Karayiorgou |
| 418-431 | Assessing Whether an Allele Can Account in Part for a Linkage Signal: The Genotype-IBD Sharing Test (GIST) | Chun Li, Laura J. Scott, Michael Boehnke |
| 432-443 | Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information | Tasha E. Fingerlin, Michael Boehnke, Gonçalo R. Abecasis |
| 444-453 | Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age | Kristel M. van Asselt, Helen S. Kok, Hein Putter, Cisca Wijmenga, Petra H.M. Peeters, Yvonne T. van der Schouw, Diederick E. Grobbee, Egbert R. te Velde, Sietse Mosselman, Peter L. Pearson |
| 454-465 | The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade | Antonio Salas, Martin Richards, María-Victoria Lareu, Rosaria Scozzari, Alfredo Coppa, Antonio Torroni, Vincent Macaulay, Ángel Carracedo |
| 466-471 | Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan | Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe, Michi Tanaka, Yoshinori Miyamura, Shiro Ito, Yasushi Tomita |
| 472-481 | Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik | Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom de Koning, Kurt von Figura, Ludwig Lehle, Christian Körner |
| 482-494 | Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease | Gonçalo R. Abecasis, Beverly M. Yashar, Yu Zhao, Noor M. Ghiasvand, Sepideh Zareparsi, Kari E.H. Branham, Adam C. Reddick, Edward H. Trager, Shigeo Yoshida, John Bahling, Elena Filippova, Susan Elner, Mark W. Johnson, Andrew K. Vine, Paul A. Sieving, Samuel G. Jacobson, Julia E. Richards, Anand Swaroop |
| 495-510 | Incorporating Genotyping Uncertainty in Haplotype Inference for Single-Nucleotide Polymorphisms | Hosung Kang, Zhaohui S. Qin, Tianhua Niu, Jun S. Liu |
| 511-520 | X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome | Juan I. Young, Huda Y. Zoghbi |
| 521-531 | Human Male Recombination Maps for Individual Chromosomes | Fei Sun, Maria Oliver-Bonet, Thomas Liehr, Heike Starke, Evelyn Ko, Alfred Rademaker, Joaquima Navarro, Jordi Benet, Renée H. Martin |
| 532-544 | The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations | J.R. Luis, D.J. Rowold, M. Regueiro, B. Caeiro, C. Cinnioğlu, C. Roseman, P.A. Underhill, L.L. Cavalli-Sforza, R.J. Herrera |
| 545-551 | Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I | Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt |
| 552-557 | X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 | Frédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie-Pierre Moizard, Martine Raynaud, Nathalie Ronce, Eric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean-Pierre Fryns, Hans-Hilger Ropers, Ben C.J. Hamel, Christian Andres, Catherine Barthélémy, Claude Moraine, Sylvain Briault |
| 558-563 | Homozygous WNT3 | Stephan Niemann, Chengfeng Zhao, Filon Pascu, Ulrich Stahl, Ute Aulepp, Lee Niswander, James L. Weber, Ulrich Müller |
| 564-571 | Intracranial Aneurysms in Finnish Families: Confirmation of Linkage and Refinement of the Interval to Chromosome 19q13.3 | Monique van der Voet, Jane M. Olson, Helena Kuivaniemi, Doreen M. Dudek, Magdalena Skunca, Antti Ronkainen, Mika Niemelä, Juha Jääskeläinen, Juha Hernesniemi, Katariina Helin, Eira Leinonen, Moumita Biswas, Gerard Tromp |
| 572-581 | Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity | Frank Geller, Kathrin Reichwald, Astrid Dempfle, Thomas Illig, Caren Vollmert, Stephan Herpertz, Winfried Siffert, Matthias Platzer, Claudia Hess, Thomas Gudermann, Heike Biebermann, H.-Erich Wichmann, Helmut Schäfer, Anke Hinney, Johannes Hebebrand |
| 582-584 | Multiple Comparisons in Studies of Gene × Gene and Gene × Environment Interaction | Peter Kraft |
| 584-585 | Reply to Kraft | Ana Maria Valdes, Brian Rhees, Henry Erlich |
| 585-588 | Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases | A. Cecile J.W. Janssens, M. Carolina Pardo, Ewout W. Steyerberg, Cornelia M. van Duijn |
| 588-589 | Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases: Reply to Janssens et al. | Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J.M. Friedman, W. Dana Flanders |
| 589-591 | Impact of Genotyping Errors on Type I Error Rate of the Haplotype-Sharing Transmission/Disequilibrium Test (HS-TDT) | Michael Knapp, Tim Becker |
| 591-593 | Reply to Knapp and Becker | Shuanglin Zhang, Qiuying Sha, Huann-sheng Chen, Jianping Dong, Renfang Jiang |
| 594-597 | Announcements | |
| 598 | Errata | |
| 598 | Errata | |
| 598 | Errata | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 599-609 | Epigenetics and Assisted Reproductive Technology: A Call for Investigation | Emily L. Niemitz, Andrew P. Feinberg |
| 610-622 | Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations | Dana C. Crawford, Christopher S. Carlson, Mark J. Rieder, Dana P. Carrington, Qian Yi, Joshua D. Smith, Michael A. Eberle, Leonid Kruglyak, Deborah A. Nickerson |
| 623-636 | Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families | Turgut Tukel, Daniel Present, Daniel Rachmilewitz, Lloyd Mayer, Deniera Grant, Neil Risch, Adel Shalata, Robert J. Desnick |
| 637-646 | Natural Selection and Molecular Evolution in PTC, | Stephen Wooding, Un-kyung Kim, Michael J. Bamshad, Jennifer Larsen, Lynn B. Jorde, Dennis Drayna |
| 647-660 | Novel Analytical Methods Applied to Type 1 Diabetes Genome-Scan Data | Flemming Pociot, Allan E. Karlsen, Claus B. Pedersen, Mogens Aalund, Jørn Nerup and European Consortium for IDDM Genome Studies |
| 661-682 | The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes | Kristiina Tambets, Siiri Rootsi, Toomas Kivisild, Hela Help, Piia Serk, Eva-Liis Loogväli, Helle-Viivi Tolk, Maere Reidla, Ene Metspalu, Liana Pliss, Oleg Balanovsky, Andrey Pshenichnov, Elena Balanovska, Marina Gubina, Sergey Zhadanov, Ludmila Osipova, Larisa Damba, Mikhail Voevoda, Ildus Kutuev, Marina Bermisheva, et al. | |
| 683-693 | Power for Genetic Association Studies with Random Allele Frequencies and Genotype Distributions | Walter T. Ambrosius, Ethan M. Lange, Carl D. Langefeld |
| 694-704 | The Etruscans: A Population-Genetic Study | Cristiano Vernesi, David Caramelli, Isabelle Dupanloup, Giorgio Bertorelle, Martina Lari, Enrico Cappellini, Jacopo Moggi-Cecchi, Brunetto Chiarelli, Loredana Castrì, Antonella Casoli, Francesco Mallegni, Carles Lalueza-Fox, Guido Barbujani |
| 705-714 | Variations in GABRA2, | Howard J. Edenberg, Danielle M. Dick, Xiaoling Xuei, Huijun Tian, Laura Almasy, Lance O. Bauer, Raymond R. Crowe, Alison Goate, Victor Hesselbrock, Kevin Jones, Jennifer Kwon, Ting-Kai Li, John I. Nurnberger Jr., Sean J. O’Connor, Theodore Reich, John Rice, Marc A. Schuckit, Bernice Porjesz, Tatiana Foroud, Henri Begleiter |
| 715-720 | Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome | Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Valérie Cormier-Daire, Laurence Colleaux |
| 721-730 | Mutations in LRP5 | Carmel Toomes, Helen M. Bottomley, Richard M. Jackson, Katherine V. Towns, Sheila Scott, David A. Mackey, Jamie E. Craig, Li Jiang, Zhenglin Yang, Richard Trembath, Geoffrey Woodruff, Cheryl Y. Gregory-Evans, Kevin Gregory-Evans, Michael J. Parker, Graeme C.M. Black, Louise M. Downey, Kang Zhang, Chris F. Inglehearn |
| 731-737 | A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA | Martin Zenker, Anita Rauch, Andreas Winterpacht, Andreas Tagariello, Cornelia Kraus, Thomas Rupprecht, Heinrich Sticht, André Reis |
| 738-744 | Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) | Erwin van Wijk, Ronald J.E. Pennings, Heleen te Brinke, Annemarie Claassen, Helger G. Yntema, Lies H. Hoefsloot, Frans P.M. Cremers, Cor. W.R.J. Cremers, Hannie Kremer |
| 745-751 | Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy | Jojanneke H.J. Huck, Nanda M. Verhoeven, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Marjo S. van der Knaap |
| 752-760 | High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta | Wayne A. Cabral, Joan C. Marini |
| 761-764 | Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B | Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Munnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel |
| 765-769 | A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other | Dale R. Nyholt |
| 770-776 | Nonmuscle Myosin Heavy-Chain Gene MYH14 | Francesca Donaudy, Rik Snoeckx, Markus Pfister, Hans-Peter Zenner, Nikolaus Blin, Mariateresa Di Stazio, Antonella Ferrara, Carmen Lanzara, Romina Ficarella, Frank Declau, Carsten M. Pusch, Peter Nürnberg, Salvatore Melchionda, Leopoldo Zelante, Ester Ballana, Xavier Estivill, Guy Van Camp, Paolo Gasparini, Anna Savoia |
| 777-780 | Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 | Claus Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R. Frank Kooy, Herbert A. Lubs, Roger E. Stevenson, Juliane Ramser, Charles E. Schwartz |
| 781-782 | Huntington’s Disease | P. Hemachandra Reddy |
| 782 | Entwined Lives: Twins and What They Tell Us about Human Behavior | F. Clarke Fraser |
| 783-787 | Announcements | |
| 788 | Errata | |
| 788 | Errata | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 789-792 | Ching Chun Li (1912–2003):A Personal Remembrance of a Hero of Genetics | Aravinda Chakravarti |
| 793-804 | Myotonic Dystrophy: RNA Pathogenesis Comes into Focus | Laura P.W. Ranum, John W. Day |
| 805-816 | The Fragile-X Premutation: A Maturing Perspective | Paul J. Hagerman, Randi J. Hagerman |
| 817-826 | Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2 | Anren Li, Xiaodong Jiao, Francis L. Munier, Daniel F. Schorderet, Wenliang Yao, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, Muh Shy Chen, Richard Alan Lewis, John Heckenlively, Richard G. Weleber, Elias I. Traboulsi, Qingjiong Zhang, Xueshan Xiao, Muriel Kaiser-Kupfer, Yuri V. Sergeev, J. Fielding Hejtmancik |
| 827-845 | Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor | Lluís Quintana-Murci, Raphaëlle Chaix, R. Spencer Wells, Doron M. Behar, Hamid Sayar, Rosaria Scozzari, Chiara Rengo, Nadia Al-Zahery, Ornella Semino, A. Silvana Santachiara-Benerecetti, Alfredo Coppa, Qasim Ayub, Aisha Mohyuddin, Chris Tyler-Smith, S. Qasim Mehdi, Antonio Torroni, Ken McElreavey |
| 846-855 | Positional Cloning by Linkage Disequilibrium | Nikolas Maniatis, Andrew Collins, Jane Gibson, Weihua Zhang, William Tapper, Newton E. Morton |
| 856-865 | Analyses of Genetic Structure of Tibeto-Burman Populations Reveals Sex-Biased Admixture in Southern Tibeto-Burmans | Bo Wen, Xuanhua Xie, Song Gao, Hui Li, Hong Shi, Xiufeng Song, Tingzhi Qian, Chunjie Xiao, Jianzhong Jin, Bing Su, Daru Lu, Ranajit Chakraborty, Li Jin |
| 866-875 | Polymorphisms in the Low-Density Lipoprotein Receptor–Related Protein 5 (LRP5) | Serge L. Ferrari, Samuel Deutsch, Urmila Choudhury, Thierry Chevalley, Jean-Philippe Bonjour, Emmanouil T. Dermitzakis, René Rizzoli, Stylianos E. Antonarakis |
| 876-885 | Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p | Shenghan Chen, William G. Ondo, Shaoqi Rao, Lin Li, Qiuyun Chen, Qing Wang |
| 886-897 | Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single-Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite Marker Assays and Finding of Significant Linkage to Chromosome 6q22 | F.A. Middleton, M.T. Pato, K.L. Gentile, C.P. Morley, X. Zhao, A.F. Eisener, A. Brown, T.L. Petryshen, A.N. Kirby, H. Medeiros, C. Carvalho, A. Macedo, A. Dourado, I. Coelho, J. Valente, M.J. Soares, C.P. Ferreira, M. Lei, M.H. Azevedo, J.L. Kennedy, et al. | |
| 898-916 | Natural Selection and Population History in the Human Angiotensinogen Gene (AGT | Toshiaki Nakajima, Stephen Wooding, Takuro Sakagami, Mitsuru Emi, Katsushi Tokunaga, Gen Tamiya, Tomoaki Ishigami, Satoshi Umemura, Batmunkh Munkhbat, Feng Jin, Jia Guan-jun, Ikuo Hayasaka, Takafumi Ishida, Naruya Saitou, Karel Pavelka, Jean-Marc Lalouel, Lynn B. Jorde, Ituro Inoue |
| 917-930 | Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 | Ulrike Schwarze, Ryu-Ichiro Hata, Victor A. McKusick, Hiroshi Shinkai, H. Eugene Hoyme, Reed E. Pyeritz, Peter H. Byers |
| 931-944 | The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4 | E. Wang, Y.-C. Ding, P. Flodman, J.R. Kidd, K.K. Kidd, D.L. Grady, O.A. Ryder, M.A. Spence, J.M. Swanson, R.K. Moyzis |
| 945-953 | Little Loss of Information Due to Unknown Phase for Fine-Scale Linkage-Disequilibrium Mapping with Single-Nucleotide–Polymorphism Genotype Data | A.P. Morris, J.C. Whittaker, D.J. Balding |
| 954-964 | Novel PMS2 | Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn Sheridan, David T. Bonthron |
| 965-978 | Design and Analysis of Admixture Mapping Studies | C.J. Hoggart, M.D. Shriver, R.A. Kittles, D.G. Clayton, P.M. McKeigue |
| 979-1000 | Methods for High-Density Admixture Mapping of Disease Genes | Nick Patterson, Neil Hattangadi, Barton Lane, Kirk E. Lohmueller, David A. Hafler, Jorge R. Oksenberg, Stephen L. Hauser, Michael W. Smith, Stephen J. O’Brien, David Altshuler, Mark J. Daly, David Reich |
| 1001-1013 | A High-Density Admixture Map for Disease Gene Discovery in African Americans | Michael W. Smith, Nick Patterson, James A. Lautenberger, Ann L. Truelove, Gavin J. McDonald, Alicja Waliszewska, Bailey D. Kessing, Michael J. Malasky, Charles Scafe, Ernest Le, Philip L. De Jager, Andre A. Mignault, Zeng Yi, Guy de Thé, Myron Essex, Jean-Louis Sankalé, Jason H. Moore, Kwabena Poku, John P. Phair, James J. Goedert, et al. | |
| 1014-1022 | Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa | Fulvio Cruciani, Roberta La Fratta, Piero Santolamazza, Daniele Sellitto, Roberto Pascone, Pedro Moral, Elizabeth Watson, Valentina Guida, Eliane Beraud Colomb, Boriana Zaharova, João Lavinha, Giuseppe Vona, Rashid Aman, Francesco Calì, Nejat Akar, Martin Richards, Antonio Torroni, Andrea Novelletto, Rosaria Scozzari |
| 1023-1034 | Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area | Ornella Semino, Chiara Magri, Giorgia Benuzzi, Alice A. Lin, Nadia Al-Zahery, Vincenza Battaglia, Liliana Maccioni, Costas Triantaphyllidis, Peidong Shen, Peter J. Oefner, Lev A. Zhivotovsky, Roy King, Antonio Torroni, L. Luca Cavalli-Sforza, Peter A. Underhill, A. Silvana Santachiara-Benerecetti |
| 1035-1042 | MSH2 | Tsun Leung Chan, Yee Wai Chan, Judy W.C. Ho, Celine Chan, Annie S.Y. Chan, Emily Chan, Polly W.Y. Lam, Chun Wah Tse, Kam Cheong Lee, Chi Wai Lau, Elaine Gwi, Suet Yi Leung, Siu Tsan Yuen |
| 1043-1050 | Mutations in AXIN2 | Laura Lammi, Sirpa Arte, Mirja Somer, Heikki Järvinen, Päivi Lahermo, Irma Thesleff, Sinikka Pirinen, Pekka Nieminen |
| 1051-1056 | Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 | R.J. Hagerman, B.R. Leavitt, F. Farzin, S. Jacquemont, C.M. Greco, J.A. Brunberg, F. Tassone, D. Hessl, S.W. Harris, L. Zhang, T. Jardini, L.W. Gane, J. Ferranti, L. Ruiz, M.A. Leehey, J. Grigsby, P.J. Hagerman |
| 1057-1063 | Linkage Disequilibrium Mapping of Schizophrenia Susceptibility to the CAPON | Linda M. Brzustowicz, Jaime Simone, Paria Mohseni, Jared E. Hayter, Kathleen A. Hodgkinson, Eva W.C. Chow, Anne S. Bassett |
| 1064-1073 | Identification of a Novel Gene (HSN2 | Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie-Pierre Dubé, Julie MacFarlane, Mary O’Driscoll, Bernard Brais, Sébastien Meilleur, Ryan R. Brinkman, Owen Dadivas, Terry Pape, Christèle Platon, Chris Radomski, Jenni Risler, Jay Thompson, Ana-Maria Guerra-Escobio, Gudarz Davar, Xandra O. Breakefield, Simon N. Pimstone, Roger Green, William Pryse-Phillips, et al. | |
| 1074 | Inferring Phylogenies. | Stephen Wooding |
| 1075-1079 | Announcements | |
| 1080 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1081-1087 | Relevance of Connexin Deafness (DFNB1) to Human Evolution | Walter E. Nance, Michael J. Kearsey |
| 1088-1101 | Graphical Modeling of the Joint Distribution of Alleles at Associated Loci | Alun Thomas, Nicola J. Camp |
| 1102-1110 | The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT | Charlotte A. Mulcare, Michael E. Weale, Abigail L. Jones, Bruce Connell, David Zeitlyn, Ayele Tarekegn, Dallas M. Swallow, Neil Bradman, Mark G. Thomas |
| 1111-1120 | Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene | Todd Bersaglieri, Pardis C. Sabeti, Nick Patterson, Trisha Vanderploeg, Steve F. Schaffner, Jared A. Drake, Matthew Rhodes, David E. Reich, Joel N. Hirschhorn |
| 1121-1127 | Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease | Joelle M. van der Walt, Maher A. Noureddine, Raja Kittappa, Michael A. Hauser, William K. Scott, Ron McKay, Fengyu Zhang, Jeffrey M. Stajich, Kenichiro Fujiwara, Burton L. Scott, Margaret A. Pericak-Vance, Jeffery M. Vance, Eden R. Martin |
| 1128-1135 | DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) | Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L. Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer-Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance |
| 1136-1153 | Linkage Analysis of a Complex Disease through Use of Admixed Populations | Xiaofeng Zhu, Richard S. Cooper, Robert C. Elston |
| 1154-1167 | Genomewide Significant Linkage to Recurrent, Early-Onset Major Depressive Disorder on Chromosome 15q | Peter Holmans, George S. Zubenko, Raymond R. Crowe, J. Raymond DePaulo Jr., William A. Scheftner, Myrna M. Weissman, Wendy N. Zubenko, Sandra Boutelle, Kathleen Murphy-Eberenz, Dean MacKinnon, Melvin G. McInnis, Diana H. Marta, Philip Adams, James A. Knowles, Madeleine Gladis, Jo Thomas, Jennifer Chellis, Erin Miller, Douglas F. Levinson |
| 1168-1174 | Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages | Anthony J. Schaeffer, June Chung, Konstantina Heretis, Andrew Wong, David H. Ledbetter, Christa Lese Martin |
| 1175-1182 | CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies | CHEK2 Breast Cancer Case-Control Consortium |
| 1183-1197 | A Comprehensive Survey of Human Y-Chromosomal Microsatellites | Manfred Kayser, Ralf Kittler, Axel Erler, Minttu Hedman, Andrew C. Lee, Aisha Mohyuddin, S. Qasim Mehdi, Zoë Rosser, Mark Stoneking, Mark A. Jobling, Antti Sajantila, Chris Tyler-Smith |
| 1198-1208 | Extended Linkage Disequilibrium Surrounding the Hemoglobin E Variant Due to Malarial Selection | Jun Ohashi, Izumi Naka, Jintana Patarapotikul, Hathairad Hananantachai, Gary Brittenham, Sornchai Looareesuwan, Andrew G. Clark, Katsushi Tokunaga |
| 1209-1215 | Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome | Ilse Wieland, Sibylle Jakubiczka, Petra Muschke, Monika Cohen, Hannelore Thiele, Klaus L. Gerlach, Ralf H. Adams, Peter Wieacker |
| 1216-1224 | Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 | Tohru Matsuura, Ping Fang, Xi Lin, Mehrdad Khajavi, Kuniko Tsuji, Astrid Rasmussen, Raji P. Grewal, Madhureeta Achari, Maria E. Alonso, Stefan M. Pulst, Huda Y. Zoghbi, David L. Nelson, Benjamin B. Roa, Tetsuo Ashizawa |
| 1225-1238 | Highly Significant Linkage to the SLI1 | SLI Consortium (SLIC) |
| 1239-1248 | Mutations in the Human TBX4 | Ernie M.H.F. Bongers, Pascal H.G. Duijf, Sylvia E.M. van Beersum, Jeroen Schoots, Albert van Kampen, Andreas Burckhardt, Ben C.J. Hamel, František Lošan, Lies H. Hoefsloot, Helger G. Yntema, Nine V.A.M. Knoers, Hans van Bokhoven |
| 1249-1254 | Mutated MESP2 | Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters, David Sillence, Sian Ellard, Sally L. Dunwoodie, Peter D. Turnpenny |
| 1255-1261 | The Novel Gene Encoding a Putative Transmembrane Protein Is Mutated in Gnathodiaphyseal Dysplasia (GDD) | Satoshi Tsutsumi, Nobuyuki Kamata, Tamara J. Vokes, Yutaka Maruoka, Koichi Nakakuki, Shoji Enomoto, Ken Omura, Teruo Amagasa, Masaru Nagayama, Fumiko Saito-Ohara, Johji Inazawa, Maki Moritani, Takashi Yamaoka, Hiroshi Inoue, Mitsuo Itakura |
| 1262-1269 | Penetrance and Expressivity of MSH6 | Barbara M. Buttin, Matthew A. Powell, David G. Mutch, Sheri A. Babb, Phyllis C. Huettner, Tina Bocker Edmonston, Thomas J. Herzog, Janet S. Rader, Randall K. Gibb, Alison J. Whelan, Paul J. Goodfellow |
| 1270-1275 | Offspring Gender Ratio and the Rate of Recurrent Spontaneous Miscarriages in Jewish Women at High Risk for Breast/Ovarian Cancer | Inbar Gal, Siegal Sadetzki, Ruth Gershoni-Baruch, Bernice Oberman, Howard Carp, Moshe Z. Papa, Tal Diestelman-Menachem, Shlomit Eisenberg-Barzilai, Eitan Friedman |
| 1276-1281 | AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC | Sandrine Marie, Bénédicte Heron, Pierre Bitoun, Thérèse Timmerman, Georges Van den Berghe, Marie-Françoise Vincent |
| 1282-1285 | Chromosomal Abnormalities among Offspring of Childhood-Cancer Survivors in Denmark: A Population-Based Study | Jeanette Falck Winther, John D. Boice Jr., John J. Mulvihill, Marilyn Stovall, Kirsten Frederiksen, E. Janet Tawn, Jørgen H. Olsen |
| 1286-1293 | Disruption of Contactin 4 | Thomas Fernandez, Thomas Morgan, Nicole Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P. Lifton, Matthew W. State |
| 1294-1302 | Bias toward the Null Hypothesis in Model-Free Linkage Analysis Is Highly Dependent on the Test Statistic Used | Heather J. Cordell |
| 1303-1308 | Missense Mutation in Pseudouridine Synthase 1 (PUS1 | Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, Aida Inbal, Nathan Fischel-Ghodsian |
| 1309-1313 | Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2 | R.S. Savkur, A.V. Philips, T.A. Cooper, J.C. Dalton, M.L. Moseley, L.P.W. Ranum, J.W. Day |
| 1314-1320 | A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12 | J.L. Wiggs, S. Lynch, G. Ynagi, M. Maselli, J. Auguste, E.A. Del Bono, L.M. Olson, J.L. Haines |
| 1321-1322 | Modes of Action of HLA-DR Susceptibility Specificities in Multiple Sclerosis | Helena Modin, Wiveka Olsson, Jan Hillert, Thomas Masterman |
| 1322-1325 | Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance | Emanuele Buratti, Antonia Brindisi, Franco Pagani, Francisco E. Baralle |
| 1326-1327 | Lost Paradises and the Ethics of Research and Publication. | Trudy R. Turner |
| 1328 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-2 | Theodore Reich, M.D. (1938–2003) | John Nurnberger |
| 3-16 | Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia | Yoshio Ikeda, Joline C. Dalton, Melinda L. Moseley, Kathy L. Gardner, Thomas D. Bird, Tetsuo Ashizawa, William K. Seltzer, Massimo Pandolfo, Aubrey Milunsky, Nicholas T. Potter, Mikio Shoji, John B. Vincent, John W. Day, Laura P.W. Ranum |
| 17-26 | Theoretical and Empirical Power of Regression and Maximum-Likelihood Methods to Map Quantitative Trait Loci in General Pedigrees | Xijiang Yu, Sara A. Knott, Peter M. Visscher |
| 27-34 | Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux | Cynthia F. Bartels, Hülya Bükülmez, Pius Padayatti, David K. Rhee, Conny van Ravenswaaij-Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, Lihadh I. Al-Gazali, Sarina Kant, Trevor Cole, Jenny Morton, Valérie Cormier-Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert R. Mortier, Jules Leroy, Bernhard Zabel, et al. | |
| 35-43 | Linkage Disequilibrium Mapping via Cladistic Analysis of Single-Nucleotide Polymorphism Haplotypes | Caroline Durrant, Krina T. Zondervan, Lon R. Cardon, Sarah Hunt, Panos Deloukas, Andrew P. Morris |
| 44-53 | Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy | Richard J.L.F. Lemmers, Petra G.M. van Overveld, Lodewijk A. Sandkuijl, Harry Vrieling, George W. Padberg, Rune R. Frants, Silvère M. van der Maarel |
| 54-64 | Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites | Sally John, Neil Shephard, Guoying Liu, Eleftheria Zeggini, Manqiu Cao, Wenwei Chen, Nisha Vasavda, Tracy Mills, Anne Barton, Anne Hinks, Steve Eyre, Keith W. Jones, William Ollier, Alan Silman, Neil Gibson, Jane Worthington, Giulia C. Kennedy |
| 65-74 | Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease | William R. Wilcox, Maryam Banikazemi, Nathalie Guffon, Stephen Waldek, Philip Lee, Gabor E. Linthorst, Robert J. Desnick, Dominique P. Germain, for the International Fabry Disease Study Group |
| 75-81 | Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates | Christine J. Shaw, Marjorie A. Withers, James R. Lupski |
| 82-91 | The NPHP1 | Melissa A. Parisi, Craig L. Bennett, Melissa L. Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis W.W. Shaw, Ruth McDonald, Allison Eddy, Phillip F. Chance, Ian A. Glass |
| 92-96 | A HOX | Antony E. Shrimpton, E. Mark Levinsohn, Justin M. Yozawitz, David S. Packard Jr., Robert B. Cady, Frank A. Middleton, Antonio M. Persico, David R. Hootnick |
| 97-105 | High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation | Efraim H. Rosenberg, Ligia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans-Hilger Ropers, Jean-Pierre Fryns, Ton J. deGrauw, Cornelis Jakobs, Gajja S. Salomons |
| 106-111 | Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15 | Elisa Di Pasquale, Paolo Beck-Peccoz, Luca Persani |
| 112-121 | A Common Haplotype of the Nicotine Acetylcholine Receptor α4 Subunit Gene Is Associated with Vulnerability to Nicotine Addiction in Men | Yan Feng, Tianhua Niu, Houxun Xing, Xin Xu, Changzhong Chen, Shaojie Peng, Lihua Wang, Nan Laird, Xiping Xu |
| 122-127 | Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen | Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I. Traboulsi, Mette Warburg, Jean-Pierre Fryns, Reijo Norio, Graeme C. M. Black, Forbes D. C. Manson |
| 128-137 | Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe | Siiri Rootsi, Toomas Kivisild, Giorgia Benuzzi, Hela Help, Marina Bermisheva, Ildus Kutuev, Lovorka Barać, Marijana Peričić, Oleg Balanovsky, Andrey Pshenichnov, Daniel Dion, Monica Grobei, Lev A. Zhivotovsky, Vincenza Battaglia, Alessandro Achilli, Nadia Al-Zahery, Jüri Parik, Roy King, Cengiz Cinnioğlu, Elsa Khusnutdinova, et al. | |
| 138-145 | Allelic Heterogeneity in the COH1 | Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn |
| 146-150 | Identification and Functional Analysis of a Defect in the Human ALG9 | Christian G. Frank, Wafaa Eyaid, Eric G. Berger, Markus Aebi, Claudia E. Grubenmann, Thierry Hennet |
| 151-152 | On the Significance of Linkage Studies of Complex Traits | Christopher Newton-Cheh, Martin Larson, Sekar Kathiresan, Christopher O’Donnell |
| 152-154 | On the Significance of Linkage Studies of Complex Traits: Reply to Newton-Cheh et al. | Qing Wang, Shaoqi Rao, Eric J. Topol |
| 155-156 | Announcements | |
| 157 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 159-160 | Jane M. Olson (December 6, 1952–May 2, 2004) | Robert C. Elston, Katrina A.B. Goddard |
| 161-173 | Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 | Mary L. Marazita, Jeffrey C. Murray, Andrew C. Lidral, Mauricio Arcos-Burgos, Margaret E. Cooper, Toby Goldstein, Brion S. Maher, Sandra Daack-Hirsch, Rebecca Schultz, M. Adela Mansilla, L. Leigh Field, You-e Liu, Natalie Prescott, Sue Malcolm, Robin Winter, Ajit Ray, Lina Moreno, Consuelo Valencia, Katherine Neiswanger, Diego F. Wyszynski, et al. | |
| 174-189 | Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions | Daniel E. Weeks, Yvette P. Conley, Hui-Ju Tsai, Tammy S. Mah, Silke Schmidt, Eric A. Postel, Anita Agarwal, Jonathan L. Haines, Margaret A. Pericak-Vance, Philip J. Rosenfeld, T. Otis Paul, Andrew W. Eller, Lawrence S. Morse, J.P. Dailey, Robert E. Ferrell, Michael B. Gorin |
| 190-203 | Large-Scale Single-Nucleotide Polymorphism (SNP) and Haplotype Analyses, Using Dense SNP Maps, of 199 Drug-Related Genes in 752 Subjects: the Analysis of the Association between Uncommon SNPs within Haplotype Blocks and the Haplotypes Constructed with Haplotype-Tagging SNPs | Naoyuki Kamatani, Akihiro Sekine, Takuya Kitamoto, Aritoshi Iida, Susumu Saito, Akifumi Kogame, Eisuke Inoue, Manabu Kawamoto, Masayoshi Harigai, Yusuke Nakamura |
| 204-219 | Genomewide Linkage Scan for Bipolar-Disorder Susceptibility Loci among Ashkenazi Jewish Families | M. Daniele Fallin, Virginia K. Lasseter, Paula S. Wolyniec, John A. McGrath, Gerald Nestadt, David Valle, Kung-Yee Liang, Ann E. Pulver |
| 220-230 | Common Variants in the 5′ Region of the Leptin Gene Are Associated with Body Mass Index in Men from the National Heart, Lung, and Blood Institute Family Heart Study | Y. Jiang, J.B. Wilk, I. Borecki, S. Williamson, A.L. DeStefano, G. Xu, J. Liu, R.C. Ellison, M. Province, R.H. Myers |
| 231-239 | Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study | Michael E. Baser, Lisa Kuramoto, Harry Joe, J.M. Friedman, Andrew J. Wallace, James E. Gillespie, Richard T. Ramsden, D. Gareth R. Evans |
| 240-250 | Authenticity of Ancient-DNA Results: A Statistical Approach | Matthew Spencer, Christopher J. Howe |
| 251-260 | Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease | Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, Nico Ruf, Angela M. Kaindl, Marco Henneke, Holger Thiele, Gisela Stoltenburg-Didinger, Fuat Aksu, Haluk Topaloğlu, Peter Nürnberg, Christoph Hübner, Bernhard Weschke, Jutta Gärtner |
| 261-266 | Mutations in Microcephalin | Marc Trimborn, Sandra M. Bell, Clive Felix, Yasmin Rashid, Hussain Jafri, Paul D. Griffiths, Luitgard M. Neumann, Alice Krebs, André Reis, Karl Sperling, Heidemarie Neitzel, Andrew P. Jackson |
| 267-281 | High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage | Nicholas J. Wang, Dahai Liu, Alexander S. Parokonny, N. Carolyn Schanen |
| 282-293 | A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases | Montgomery Slatkin |
| 294-304 | A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 | Christopher J. Hammond, Toby Andrew, Ying Tat Mak, Tim D. Spector |
| 305-309 | Mutations in the FTSJ1 | Kristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, Martin B. Delatycki, Vincent des Portes, Bettina Moser, Ben Hamel, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Jozef Gécz, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers |
| 310-317 | Autosomal Dominant Avascular Necrosis of Femoral Head in Two Taiwanese Pedigrees and Linkage to Chromosome 12q13 | Wei-Ming Chen, Yu-Fen Liu, Ming-Wei Lin, I-Chun Chen, Pei-Yu Lin, Guan-Lu Lin, Yuh-Shan Jou, Yang-Te Lin, Cathy S.J. Fann, Jer-Yuarn Wu, Kwang-Jen Hsiao, Shih-Feng Tsai |
| 318-324 | Mutations in the DLG3 | Patrick Tarpey, Josep Parnau, Matthew Blow, Hayley Woffendin, Graham Bignell, Charles Cox, James Cox, Helen Davies, Sarah Edkins, Simon Holden, Angelique Korny, Uma Mallya, Jenny Moon, Sarah O’Meara, Adrian Parker, Philip Stephens, Claire Stevens, Jon Teague, Andrew Donnelly, Marie Mangelsdorf, et al. | |
| 325-329 | Intergenerational Instability of the Expanded CTG Repeat in the DMPK | Nele De Temmerman, Karen Sermon, Sara Seneca, Martine De Rycke, Pierre Hilven, Willy Lissens, André Van Steirteghem, Inge Liebaers |
| 330-337 | A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22 | Ann B. Begovich, Victoria E.H. Carlton, Lee A. Honigberg, Steven J. Schrodi, Anand P. Chokkalingam, Heather C. Alexander, Kristin G. Ardlie, Qiqing Huang, Ashley M. Smith, Jill M. Spoerke, Marion T. Conn, Monica Chang, Sheng-Yung P. Chang, Randall K. Saiki, Joseph J. Catanese, Diane U. Leong, Veronica E. Garcia, Linda B. McAllister, Douglas A. Jeffery, Annette T. Lee, et al. | |
| 338-345 | A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa | Barbara Arredi, Estella S. Poloni, Silvia Paracchini, Tatiana Zerjal, Dahmani M. Fathallah, Mohamed Makrelouf, Vincenzo L. Pascali, Andrea Novelletto, Chris Tyler-Smith |
| 346-348 | SLEN2 (2q34–35) and SLEN1 (10q22.3) Replication in Systemic Lupus Erythematosus Stratified by Nephritis | Ana I. Quintero-Del-Rio, Jennifer A. Kelly, C. Phillip Garriott, David C. Hutchings, Summer G. Frank, Christopher E. Aston, John B. Harley |
| 349-350 | The Hereditary Basis of Allergic Disease | Torben A. Kruse |
| 351 | Announcements | |
| 352 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 353-362 | The Future of Association Studies: Gene-Based Analysis and Replication | Benjamin M. Neale, Pak C. Sham |
| 363-375 | Signatures of Selection and Gene Conversion Associated with Human Color Vision Variation | Brian C. Verrelli, Sarah A. Tishkoff |
| 376-385 | Trisomy Recurrence: A Reconsideration Based on North American Data | Dorothy Warburton, Louis Dallaire, Maya Thangavelu, Lori Ross, Bruce Levin, Jennie Kline |
| 386-397 | Estimating the Rate of Gene Conversion on Human Chromosome 21 | Badri Padhukasahasram, Paul Marjoram, Magnus Nordborg |
| 398-409 | Evidence for a Novel Late-Onset Alzheimer Disease Locus on Chromosome 19p13.2 | Ellen M. Wijsman, E. Warwick Daw, Change-En Yu, Haydeh Payami, Ellen J. Steinbart, David Nochlin, Erin M. Conlon, Thomas D. Bird, Gerard D. Schellenberg |
| 410-423 | High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 | H. Kehrer-Sawatzki, L. Kluwe, C. Sandig, M. Kohn, K. Wimmer, U. Krammer, A. Peyrl, D.E. Jenne, I. Hansmann, V.-F. Mautner |
| 424-435 | Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies | Frank Dudbridge, Bobby P.C. Koeleman |
| 436-447 | A Genomewide Scan for Early-Onset Coronary Artery Disease in 438 Families: The GENECARD Study | Elizabeth R. Hauser, David C. Crossman, Christopher B. Granger, Jonathan L. Haines, Christopher J.H. Jones, Vincent Mooser, Brendan McAdam, Bernhard R. Winkelmann, Alan H. Wiseman, J. Brent Muhlestein, Alan G. Bartel, Charles A. Dennis, Elaine Dowdy, Susan Estabrooks, Karen Eggleston, Sheila Francis, Kath Roche, Paula W. Clevenger, Liling Huang, Bonnie Pedersen, et al. | |
| 448-459 | Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12 | Dwight Stambolian, Grace Ibay, Lauren Reider, Debra Dana, Chris Moy, Melissa Schlifka, Taura Holmes, Elise Ciner, Joan E. Bailey-Wilson |
| 460-474 | A Major Lung Cancer Susceptibility Locus Maps to Chromosome 6q23–25 | J.E. Bailey-Wilson, C.I. Amos, S.M. Pinney, G.M. Petersen, M. de Andrade, J.S. Wiest, P. Fain, A.G. Schwartz, M. You, W. Franklin, C. Klein, A. Gazdar, H. Rothschild, D. Mandal, T. Coons, J. Slusser, J. Lee, C. Gaba, E. Kupert, A. Perez, et al. | |
| 475-484 | Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) | Annie P. Chiang, Darryl Nishimura, Charles Searby, Khalil Elbedour, Rivka Carmi, Amanda L. Ferguson, Jenifer Secrist, Terry Braun, Thomas Casavant, Edwin M. Stone, Val C. Sheffield |
| 485-491 | Microarray Analysis of Cell-Free Fetal DNA in Amniotic Fluid: a Prenatal Molecular Karyotype | Paige B. Larrabee, Kirby L. Johnson, Ekaterina Pestova, Madhuri Lucas, Kim Wilber, Erik S. LeShane, Umadevi Tantravahi, Janet M. Cowan, Diana W. Bianchi |
| 492-497 | Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 | Marco Tartaglia, Viviana Cordeddu, Hong Chang, Adam Shaw, Kamini Kalidas, Andrew Crosby, Michael A. Patton, Mariella Sorcini, Ineke van der Burgt, Steve Jeffery, Bruce D. Gelb |
| 498-503 | Genomewide Scan for Gout in Taiwanese Aborigines Reveals Linkage to Chromosome 4q25 | Li Shu-Chuan Cheng, Shang-Lun Chiang, Hung-Pin Tu, Shun-Jen Chang, Tsu-Nai Wang, Allen Min-Jen Ko, Ranajit Chakraborty, Ying-Chin Ko |
| 504-507 | Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE | Chieko Kyogoku, Ward A. Ortmann, Annette Lee, Scott Selby, Victoria E.H. Carlton, Monica Chang, Paula Ramos, Emily C. Baechler, Franak M. Batliwalla, Jill Novitzke, Adrienne H. Williams, Clarence Gillett, Peter Rodine, Robert R. Graham, Kristin G. Ardlie, Patrick M. Gaffney, Kathy L. Moser, Michelle Petri, Ann B. Begovich, Peter K. Gregersen, et al. | |
| 508-513 | Replication Study Supports Evidence for Linkage to 9p24 in Obsessive-Compulsive Disorder | Virginia L. Willour, Yin Yao Shugart, Jack Samuels, Marco Grados, Bernadette Cullen, O. Joseph Bienvenu III, Ying Wang, Kung-Yee Liang, David Valle, Rudolf Hoehn-Saric, Mark Riddle, Gerald Nestadt |
| 514-517 | Are Sequence Family Variants Useful for Identifying Deletions in the Human Y Chromosome? | Sjoerd Repping, Cindy M. Korver, Robert D. Oates, Sherman Silber, Fulco van der Veen, David C. Page, Steve Rozen |
| 517-518 | Reply to Repping et al. | Susana Fernandes, Silvia Paracchini, L.H. Meyer, Giovanna Floridia, Chris Tyler-Smith, Peter H. Vogt |
| 519-522 | Problematic Use of Greenberg's Linguistic Classification of the Americas in Studies of Native American Genetic Variation | Deborah A. (Weiss) Bolnick, Beth A. (Schultz) Shook, Lyle Campbell, Ives Goddard |
| 523-525 | The Phylogeography of Mitochondrial DNA Haplogroup L3g in Africa and the Atlantic Slave Trade | Maria Cátira Bortolini, Wilson A. Da Silva Jr., Marco Antônio Zago, Jacques Elion, Rajagopal Krishnamoorthy, Vanessa F. Gonçalves, Sérgio D.J. Pena |
| 524-526 | Reply to Bortolini et al. | Antonio Salas, Antonio Torroni, Martin Richards, Lluis Quintana-Murci, Catherine Hill, Vincent Macaulay, Ángel Carracedo |
| 526-528 | Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study | Jane Halliday, Kay Oke, Sue Breheny, Elizabeth Algar, David J. Amor |
| 529-530 | Human Genome Epidemiology | France Gagnon |
| 530-531 | Genetics and the Logic of Evolution | Antony Shrimpton |
| 532-533 | Announcements | |
| 534 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 535-544 | Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 | David E. Goldgar, Douglas F. Easton, Amie M. Deffenbaugh, Alvaro N.A. Monteiro, Sean V. Tavtigian, Fergus J. Couch and Breast Cancer Information Core (BIC) Steering Committee |
| 545-560 | Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region | P. Paschou, Y. Feng, A.J. Pakstis, W.C. Speed, M.M. DeMille, J.R. Kidd, B. Jaghori, R. Kurlan, D.L. Pauls, P. Sandor, C.L. Barr, K.K. Kidd |
| 561-570 | A Powerful Strategy to Account for Multiple Testing in the Context of Haplotype Analysis | Tim Becker, Michael Knapp |
| 571-586 | Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3 | Mathieu Lemire, Nicole M. Roslin, Catherine Laprise, Thomas J. Hudson, Kenneth Morgan |
| 587-595 | The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis | Andrew E. Timms, Alison M. Crane, Anne-Marie Sims, Heather J. Cordell, Linda A. Bradbury, Aaron Abbott, Mark R.E. Coyne, Owen Beynon, Ibi Herzberg, Gordon W. Duff, Andrei Calin, Lon R. Cardon, B. Paul Wordsworth, Matthew A. Brown |
| 596-609 | Mutation History of the Roma/Gypsies | Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Agnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, Jeff Reeve, Rosario de Pablo, et al. | |
| 610-623 | NIPBL | Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz |
| 624-638 | Polymorphisms in the Trace Amine Receptor 4 | Jubao Duan, Maria Martinez, Alan R. Sanders, Cuiping Hou, Naruya Saitou, Takashi Kitano, Bryan J. Mowry, Raymond R. Crowe, Jeremy M. Silverman, Douglas F. Levinson, Pablo V. Gejman |
| 639-646 | Retinal Dehydrogenase 12 (RDH12 | Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet |
| 647-653 | Sequence-Based Linkage Analysis | Itay Furman, Mark J. Rieder, Suzanne da Ponte, Dana P. Carrington, Deborah A. Nickerson, Leonid Kruglyak, Kyriacos Markianos |
| 654-660 | Chromosomal Instability at Common Fragile Sites in Seckel Syndrome | Anne M. Casper, Sandra G. Durkin, Martin F. Arlt, Thomas W. Glover |
| 661-668 | Attention Deficit Hyperactivity Disorder: Fine Mapping Supports Linkage to 5p13, 6q12, 16p13, and 17p11 | Matthew N. Ogdie, Simon E. Fisher, May Yang, Janeen Ishii, Clyde Francks, Sandra K. Loo, Rita M. Cantor, James T. McCracken, James J. McGough, Susan L. Smalley, Stanley F. Nelson |
| 669-677 | Linkage Disequilibrium and Association of MAPT | Lisa Skipper, Kristen Wilkes, Mathias Toft, Matthew Baker, Sarah Lincoln, Mary Hulihan, Owen A. Ross, Mike Hutton, Jan Aasly, Matthew Farrer |
| 678-686 | The G/G Genotype of a Resistin Single-Nucleotide Polymorphism at −420 Increases Type 2 Diabetes Mellitus Susceptibility by Inducing Promoter Activity through Specific Binding of Sp1/3 | Haruhiko Osawa, Kazuya Yamada, Hiroshi Onuma, Akiko Murakami, Masaaki Ochi, Hiroko Kawata, Tatsuya Nishimiya, Toshiyuki Niiya, Ikki Shimizu, Wataru Nishida, Mitsuru Hashiramoto, Azuma Kanatsuka, Yasuhisa Fujii, Jun Ohashi, Hideichi Makino |
| 687-692 | Guidelines for Genotyping in Genomewide Linkage Studies: Single-Nucleotide–Polymorphism Maps Versus Microsatellite Maps | David M. Evans, Lon R. Cardon |
| 693-702 | The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe | Brian McEvoy, Martin Richards, Peter Forster, Daniel G. Bradley |
| 703-708 | Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7 | Christopher Meredith, Ralf Herrmann, Cheryl Parry, Khema Liyanage, Danielle E. Dye, Hayley J. Durling, Rachael M. Duff, Kaye Beckman, Marianne de Visser, Maaike M. van der Graaff, Peter Hedera, John K. Fink, Elizabeth M. Petty, Phillipa Lamont, Vicki Fabian, Leslie Bridges, Thomas Voit, Frank L. Mastaglia, Nigel G. Laing |
| 709-715 | The IL12B | Adrienne G. Randolph, Christoph Lange, Edwin K. Silverman, Ross Lazarus, Eric S. Silverman, Benjamin Raby, Alison Brown, Al Ozonoff, Brent Richter, Scott T. Weiss |
| 716-718 | No “Bias” Toward the Null Hypothesis in Most Conventional Multipoint Nonparametric Linkage Analyses | Indranil Mukhopadhyay, Eleanor Feingold, Daniel E. Weeks |
| 718-720 | Conventional Multipoint Nonparametric Linkage Analysis Is Not Necessarily Inherently Biased | Peter M. Visscher, Naomi R. Wray |
| 720-722 | “Bias toward the Null” Means Reduced Power | Solveig K. Sieberts, Karl W. Broman, Daniel F. Gudbjartsson |
| 722-723 | No Bias in Linkage Analysis | Goncalo Abecasis, Nancy Cox, Mark J. Daly, Leonid Kruglyak, Nan Laird, Kyriacos Markianos, Nick Patterson |
| 723-727 | Got Bias The Authors Reply | Nicholas J. Schork, Tiffany A. Greenwood |
| 727-730 | Germline PHOX2B | Yael P. Mosse, Marci Laudenslager, Deepa Khazi, Alex J. Carlisle, Cynthia L. Winter, Eric Rappaport, John M. Maris |
| 730-731 | Comparative Frequency of Fragile-X (FMR1 | J.L. Mandel |
| 731-732 | Reply to Mandel | Gajja S. Salomons, Hans-Hilger Ropers |
| 733 | Genetics of Mitochondrial Diseases | Carlos T. Moraes |
| 734 | Mutants: On Genetic Variety and the Human Body | David FitzPatrick |
| 735-736 | Announcements | |
| 737 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 739-751 | The Genetics of Sun Sensitivity in Humans | Jonathan L. Rees |
| 752-770 | Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears | Toomas Kivisild, Maere Reidla, Ene Metspalu, Alexandra Rosa, Antonio Brehm, Erwan Pennarun, Jüri Parik, Tarekegn Geberhiwot, Esien Usanga, Richard Villems |
| 771-789 | Statistical Tests for Admixture Mapping with Case-Control and Cases-Only Data | Giovanni Montana, Jonathan K. Pritchard |
| 790-800 | Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy | Matthias R. Baumgartner, M.Fernanda Dantas, Terttu Suormala, Shlomo Almashanu, Cecilia Giunta, Dolores Friebel, Boris Gebhardt, Brian Fowler, Georg F. Hoffmann, E.Regula Baumgartner, David Valle |
| 801-806 | ADAMTS10 | Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire |
| 807-821 | Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase (COMT | Jingshan Chen, Barbara K. Lipska, Nader Halim, Quang D. Ma, Mitsuyuki Matsumoto, Samer Melhem, Bhaskar S. Kolachana, Thomas M. Hyde, Mary M. Herman, Jose Apud, Michael F. Egan, Joel E. Kleinman, Daniel R. Weinberger |
| 822-831 | A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis | Agnes L. Nishimura, Miguel Mitne-Neto, Helga C.A. Silva, Antônio Richieri-Costa, Susan Middleton, Duilio Cascio, Fernando Kok, João R.M. Oliveira, Tom Gillingwater, Jeanette Webb, Paul Skehel, Mayana Zatz |
| 832-843 | Association of the Gene Encoding Wingless-Type Mammary Tumor Virus Integration-Site Family Member 5B (WNT5B | Akio Kanazawa, Syuuichi Tsukada, Akihiro Sekine, Tatsuhiko Tsunoda, Atsushi Takahashi, Atsunori Kashiwagi, Yasushi Tanaka, Tetsuya Babazono, Masafumi Matsuda, Kohei Kaku, Yasuhiko Iwamoto, Ryuzo Kawamori, Ryuichi Kikkawa, Yusuke Nakamura, Shiro Maeda |
| 844-849 | Microdeletion of LIT1 | Emily L. Niemitz, Michael R. DeBaun, Jonathan Fallon, Kazuhiro Murakami, Hiroyuki Kugoh, Mitsuo Oshimura, Andrew P. Feinberg |
| 850-861 | Finding Haplotype Tagging SNPs by Use of Principal Components Analysis | Zhen Lin, Russ B. Altman |
| 862-872 | Disrupted in Schizophrenia 1 (DISC1): Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder | Colin A. Hodgkinson, David Goldman, Judith Jaeger, Shalini Persaud, John M. Kane, Robert H. Lipsky, Anil K. Malhotra |
| 873-877 | Family-Based Association Study of Synapsin II | Qi Chen, Guang He, Wei Qin, Qing-ying Chen, Xin-zhi Zhao, Shi-wei Duan, Xin-min Liu, Guo-yin Feng, Yi-feng Xu, David St Clair, Min Li, Jin-huan Wang, Yang-ling Xing, Jian-guo Shi, Lin He |
| 878-884 | Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5 | Xiaodong Jiao, Valerio Ventruto, Michael T. Trese, Barkur S. Shastry, J.Fielding Hejtmancik |
| 885-890 | Genetic Variation in Radiation-Induced Expression Phenotypes | Candace R. Correa, Vivian G. Cheung |
| 891-898 | Association of the DTNBP1 | Birgit Funke, Christine T. Finn, Alex M. Plocik, Stephen Lake, Pamela DeRosse, John M. Kane, Raju Kucherlapati, Anil K. Malhotra |
| 899-905 | Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation | Yiqing Yang, Min Xia, Qingfeng Jin, Saïd Bendahhou, Jingyi Shi, Yiping Chen, Bo Liang, Jie Lin, Yi Liu, Ban Liu, Qinshu Zhou, Dongwei Zhang, Rong Wang, Ning Ma, Xiaoyan Su, Kaiya Niu, Yan Pei, Wenyuan Xu, Zhaopeng Chen, Haiying Wan, et al. | |
| 906-909 | A Powerful and Robust New Linkage Statistic for Discordant Sibling Pairs | Jin P. Szatkiewicz, Eleanor Feingold |
| 910-918 | The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool | Alessandro Achilli, Chiara Rengo, Chiara Magri, Vincenza Battaglia, Anna Olivieri, Rosaria Scozzari, Fulvio Cruciani, Massimo Zeviani, Egill Briem, Valerio Carelli, Pedro Moral, Jean-Michel Dugoujon, Urmas Roostalu, Eva-Liis Loogväli, Toomas Kivisild, Hans-Jürgen Bandelt, Martin Richards, Richard Villems, A.Silvana Santachiara-Benerecetti, Ornella Semino, et al. | |
| 919-920 | Etruscan Artifacts | Hans-Jürgen Bandelt |
| 920-923 | On the Etruscan Mitochondrial DNA Contribution to Modern Humans | Boris A. Malyarchuk, Igor B. Rogozin |
| 923-927 | Etruscan Artifacts: Much Ado about Nothing | Guido Barbujani, Cristiano Vernesi, David Caramelli, Loredana Castrì, Carles Lalueza-Fox, Giorgio Bertorelle |
| 927-928 | GDD1 Is Identical to TMEM16E, a Member of the TMEM16 Family | Masuko Katoh, Masaru Katoh |
| 928-929 | Response to Katoh and Katoh | Nobuyuki Kamata |
| 930-931 | Announcements | |
| 932 | Erratum | |
| i-v | Editorial Reviewers for 2004 | |
| vii-viii | This Month in the Journal | Kathryn Garber |
| 933-947 | Complex Genetics of Amyotrophic Lateral Sclerosis | Catherine B. Kunst |
| 948-965 | Comparison of Microsatellites Versus Single-Nucleotide Polymorphisms in a Genome Linkage Screen for Prostate Cancer–Susceptibility Loci | Daniel J. Schaid, Jennifer C. Guenther, Gerald B. Christensen, Scott Hebbring, Carsten Rosenow, Christopher A. Hilker, Shannon K. McDonnell, Julie M. Cunningham, Susan L. Slager, Michael L. Blute, Stephen N. Thibodeau |
| 966-978 | Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia | Malliya gounder Palanichamy, Chang Sun, Suraksha Agrawal, Hans-Jürgen Bandelt, Qing-Peng Kong, Faisal Khan, Cheng-Ye Wang, Tapas Kumar Chaudhuri, Venkatramana Palla, Ya-Ping Zhang |
| 979-987 | Mutations in the AHI1 | Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M. Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al-Gazali, Asma A. Al-Tawari, Hulya Kayserili, László Sztriha, Joseph G. Gleeson |
| 988-997 | Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci | Kathleen A. Daly, W. Mark Brown, Fernando Segade, Donald W. Bowden, Bronya J. Keats, Bruce R. Lindgren, Samuel C. Levine, Stephen S. Rich |
| 998-1014 | Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11 | Mauricio Arcos-Burgos, F. Xavier Castellanos, David Pineda, Francisco Lopera, Juan David Palacio, Luis Guillermo Palacio, Judith L. Rapoport, Kate Berg, Joan E. Bailey-Wilson, Maximilian Muenke |
| 1015-1031 | A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically Differentiated Isolates of Sardinia | Mario Falchi, Paola Forabosco, Evelina Mocci, Cesare Cappio Borlino, Andrea Picciau, Emanuela Virdis, Ivana Persico, Debora Parracciani, Andrea Angius, Mario Pirastu |
| 1032-1045 | Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST | Andre G. Uitterlinden, Pascal P. Arp, Bryan W. Paeper, Patrick Charmley, Sean Proll, Fernando Rivadeneira, Yue Fang, Joyce B.J. van Meurs, Theresa B. Britschgi, John A. Latham, Randall C. Schatzman, Huibert A.P. Pols, Mary E. Brunkow |
| 1046-1058 | A 77-Kilobase Region of Chromosome 6p22.2 Is Associated with Dyslexia in Families From the United Kingdom and From the United States | Clyde Francks, Silvia Paracchini, Shelley D. Smith, Alex J. Richardson, Tom S. Scerri, Lon R. Cardon, Angela J. Marlow, I. Laurence MacPhie, Janet Walter, Bruce F. Pennington, Simon E. Fisher, Richard K. Olson, John C. DeFries, John F. Stein, Anthony P. Monaco |
| 1059-1069 | CYP3A | E.E. Thompson, H. Kuttab-Boulos, D. Witonsky, L. Yang, B.A. Roe, A. Di Rienzo |
| 1070-1078 | A Second-Generation Genomic Screen for Multiple Sclerosis | S.J. Kenealy, M.-C. Babron, Y. Bradford, N. Schnetz-Boutaud, J.L. Haines, J.B. Rimmler, S. Schmidt, M.A. Pericak-Vance, L.F. Barcellos, R.R. Lincoln, J.R. Oksenberg, S.L. Hauser, M. Clanet, D. Brassat, G. Edan, J. Yaouanq, G. Semana, I. Cournu-Rebeix, O. Lyon-Caen, B. Fontaine and American-French Multiple Sclerosis Genetics Group |
| 1079-1093 | Mutations of CDKL5 | Linda S. Weaving, John Christodoulou, Sarah L. Williamson, Kathie L. Friend, Olivia L.D. McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J. Pelka, Patrick P.L. Tam, Catherine Watson, Hooshang Lahooti, Carolyn J. Ellaway, Bruce Bennetts, Helen Leonard, Jozef Gécz |
| 1094-1105 | Genetic Inheritance of Gene Expression in Human Cell Lines | S.A. Monks, A. Leonardson, H. Zhu, P. Cundiff, P. Pietrusiak, S. Edwards, J.W. Phillips, A. Sachs, E.E. Schadt |
| 1106-1112 | Ignoring Linkage Disequilibrium among Tightly Linked Markers Induces False-Positive Evidence of Linkage for Affected Sib Pair Analysis | Qiqing Huang, Sanjay Shete, Christopher I. Amos |
| 1113-1116 | The Genetic or Mythical Ancestry of Descent Groups: Lessons from the Y Chromosome | Raphaëlle Chaix, Frédéric Austerlitz, Tatyana Khegay, Svetlana Jacquesson, Michael F. Hammer, Evelyne Heyer, Lluís Quintana-Murci |
| 1117-1123 | Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder | Jennifer L. Stone, Barry Merriman, Rita M. Cantor, Amanda L. Yonan, T. Conrad Gilliam, Daniel H. Geschwind, Stanley F. Nelson |
| 1124-1130 | Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy | Richard J. F.L. Lemmers, Mariëlle Wohlgemuth, Rune R. Frants, George W. Padberg, Eva Morava, Silvère M. van der Maarel |
| 1131-1135 | CHEK2 | C. Cybulski, B. Górski, T. Huzarski, B. Masojć, M. Mierzejewski, T. Dębniak, U. Teodorczyk, T. Byrski, J. Gronwald, J. Matyjasik, E. Złowocka, M. Lenner, E. Grabowska, K. Nej, J. Castaneda, K. Mędrek, A. Szymańska, J. Szymańska, G. Kurzawski, J. Suchy, et al. | |
| 1136-1142 | A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening | Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans-Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern |
| 1143-1148 | A Combined Linkage-Physical Map of the Human Genome | X. Kong, K. Murphy, T. Raj, C. He, P.S. White, T.C. Matise |
| 1149-1154 | Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9 | Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina Moser, Martine Raynaud, Jürgen Sperner, Jean-Pierre Fryns, Eberhard Schwinger, Jozef Gécz, Hans-Hilger Ropers, Vera M. Kalscheuer |
| 1155-1157 | Announcements | |
| 1158 | Errata | |
| 1158 | Errata | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-7 | Prospects for Admixture Mapping of Complex Traits | Paul M. McKeigue |
| 8-32 | Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease | Dirk A. Kleinjan, Veronica van Heyningen |
| 33-41 | Sex-Specific Genetic Architecture of Whole Blood Serotonin Levels | Lauren A. Weiss, Mark Abney, Edwin H. Cook Jr., Carole Ober |
| 42-51 | Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations | F. Bergametti, C. Denier, P. Labauge, M. Arnoult, S. Boetto, M. Clanet, P. Coubes, B. Echenne, R. Ibrahim, B. Irthum, G. Jacquet, M. Lonjon, J.J. Moreau, J.P. Neau, F. Parker, M. Tremoulet, E. Tournier-Lasserve and Société Française de Neurochirurgie |
| 52-67 | Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion | Remco Visser, Osamu Shimokawa, Naoki Harada, Akira Kinoshita, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto |
| 82-90 | Systematic Evaluation of Genetic Variation at the Androgen Receptor Locus and Risk of Prostate Cancer in a Multiethnic Cohort Study | Matthew L. Freedman, Celeste L. Pearce, Kathryn L. Penney, Joel N. Hirschhorn, Laurence N. Kolonel, Brian E. Henderson, David Altshuler |
| 91-99 | Association between Maternal Age and Meiotic Recombination for Trisomy 21 | Neil E. Lamb, Kai Yu, John Shaffer, Eleanor Feingold, Stephanie L. Sherman |
| 100-111 | A Whole-Genome Scan for 24-Hour Respiration Rate: A Major Locus at 10q26 Influences Respiration During Sleep | E.J.C. de Geus, D. Posthuma, N. Kupper, M. van den Berg, G. Willemsen, A.L. Beem, P.E. Slagboom, D.I. Boomsma |
| 112-127 | Extreme Heterogeneity in the Molecular Events Leading to the Establishment of Chiasmata during Meiosis I in Human Oocytes | Michelle L. Lenzi, Jenetta Smith, Timothy Snowden, Mimi Kim, Richard Fishel, Bradford K. Poulos, Paula E. Cohen |
| 128-138 | Robust Multipoint Identical-by-Descent Mapping for Affected Relative Pairs | Daniel J. Schaid, Jason P. Sinnwell, Stephen N. Thibodeau |
| 139-146 | Malic Enzyme 2 May Underlie Susceptibility to Adolescent-Onset Idiopathic Generalized Epilepsy | David A. Greenberg, Eftihia Cayanis, Lisa Strug, Sudhir Marathe, Martina Durner, Deb K. Pal, Gabriele B. Alvin, Irene Klotz, Elisa Dicker, Shlomo Shinnar, Edward B. Bromfield, Stanley Resor, Jeffrey Cohen, Solomon L. Moshe, Cynthia Harden, Harriet Kang |
| 147-151 | Mapping of a Major Locus that Determines Telomere Length in Humans | Mariuca Vasa-Nicotera, Scott Brouilette, Massimo Mangino, John R. Thompson, Peter Braund, Jenny-Rebecca Clemitson, Andrea Mason, Clare L. Bodycote, Stuart M. Raleigh, Edward Louis, Nilesh J. Samani |
| 152-156 | Mathematical Assumptions versus Biological Reality: Myths in Affected Sib Pair Linkage Analysis | Robert C. Elston, Danhong Song, Sudha K. Iyengar |
| 157-163 | Regression Mapping of Association between the Human Leukocyte Antigen Region and Graves Disease | Matthew J. Simmonds, Joanna M.M. Howson, Joanne M. Heward, Heather J. Cordell, Helen Foxall, Jackie Carr-Smith, Sarah M. Gibson, Neil Walker, Yaron Tomer, Jayne A. Franklyn, John A. Todd, Stephen C.L. Gough |
| 164-171 | Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1 | Sandro Orrù, Erika Giuressi, Carlo Carcassi, Mirella Casula, Licinio Contu |
| 172-179 | Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13 | Brian V. Nahed, Askin Seker, Bulent Guclu, Ali K. Ozturk, Karin Finberg, Abigail A. Hawkins, Michael L. DiLuna, Matthew State, Richard P. Lifton, Murat Gunel |
| 180-183 | Strong Evidence of Linkage Disequilibrium between Polymorphisms at the IRF6 | Luca Scapoli, Annalisa Palmieri, Marcella Martinelli, Furio Pezzetti, Paolo Carinci, Mauro Tognon, Francesco Carinci |
| 184-187 | The R620W Polymorphism of the Protein Tyrosine Phosphatase PTPN22 Is Not Associated with Multiple Sclerosis | Ann B. Begovich, Stacy J. Caillier, Heather C. Alexander, Joanne M. Penko, Stephen L. Hauser, Lisa F. Barcellos, Jorge R. Oksenberg |
| 187-189 | Corrections to the Parameterization of Constraints on Allele Sharing in Sibling Pairs Alter Covariate-Parameter Estimates but Not Sharing-Probability Estimates or Power of Tests for Linkage | Celia M.T. Greenwood, Shelley B. Bull |
| 190 | Statistical Methods in Genetic Epidemiology. | Diego F. Wyszynski |
| 190-192 | Examining the Farming/Language Dispersal Hypothesis. | David Glenn Smith |
| 193-195 | Announcements | |
| 196 | Erratum | |
| 196 | Erratum | |
| 196 | Erratum | |
| 68-81 | Genetic Investigation of Quantitative Traits Related to Autism: Use of Multivariate Polygenic Models with Ascertainment Adjustment | Yun Ju Sung, Geraldine Dawson, Jeffrey Munson, Annette Estes, Gerard D. Schellenberg, Ellen M. Wijsman |
| i-ii | This Month in the Journal | Kathryn Garber |
| 197 | 2004 Cotterman Award Winners | |
| 198-202 | What Is Special about the “Human” in “Human Genetics”? | Robert L. Nussbaum |
| 203-204 | Introductory Speech for Louis Kunkel | Jane Gitschier |
| 205-214 | Cloning of the DMD Gene | Louis M. Kunkel |
| 215 | Introductory Speech for Robert J. Gorlin | Judith G. Hall |
| 216-218 | And the Band Played On… | Robert J. Gorlin |
| 219-220 | Introductory Speech for Neil Risch | Leon E. Rosenberg |
| 221-226 | The SNP Endgame: A Multidisciplinary Approach | Neil Risch |
| 227-236 | Mutations in the JARID1C | Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimmel, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, Ben Hamel, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans-Hilger Ropers, Steffen Lenzner |
| 237-248 | Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population | Tine Venken, Stephan Claes, Samuël Sluijs, Andrew D. Paterson, Cornelia van Duijn, Rolf Adolfsson, Jurgen Del-Favero, Christine Van Broeckhoven |
| 249-259 | Parental Phenotypes in Family-Based Association Analysis | Shaun Purcell, Pak Sham, Mark J. Daly |
| 260-267 | Dent Disease with Mutations in OCRL1 | Richard R. Hoopes Jr., Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman |
| 268-275 | Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies | Hua Tang, Tom Quertermous, Beatriz Rodriguez, Sharon L.R. Kardia, Xiaofeng Zhu, Andrew Brown, James S. Pankow, Michael A. Province, Steven C. Hunt, Eric Boerwinkle, Nicholas J. Schork, Neil J. Risch |
| 276-290 | Ethnicity and Human Genetic Linkage Maps | Eric Jorgenson, Hua Tang, Maya Gadde, Mike Province, Mark Leppert, Sharon Kardia, Nicholas Schork, Richard Cooper, D.C. Rao, Eric Boerwinkle, Neil Risch |
| 291-301 | Contrasting Effects of Natural Selection on Human and Chimpanzee CC Chemokine Receptor 5 | Stephen Wooding, Anne C. Stone, Diane M. Dunn, Srinivas Mummidi, Lynn B. Jorde, Robert K. Weiss, Sunil Ahuja, Michael J. Bamshad |
| 302-311 | Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells | Kerrie Nichol Edamura, Michelle R. Leonard, Christopher E. Pearson |
| 312-326 | High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization | Xiaoxiao Zhang, Antoine Snijders, Richard Segraves, Xiuqing Zhang, Anita Niebuhr, Donna Albertson, Huanming Yang, Joe Gray, Erik Niebuhr, Lars Bolund, Dan Pinkel |
| 327-333 | A New Susceptibility Locus for Migraine with Aura in the 15q11-q13 Genomic Region Containing Three GABA-A Receptor Genes | Luisa Russo, Paolo Mariotti, Eugenio Sangiorgi, Tiziana Giordano, Iolanda Ricci, Francesca Lupi, Rossella Chiera, Francesco Guzzetta, Giovanni Neri, Fiorella Gurrieri |
| 334-339 | Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy | Florence Molinari, Annick Raas-Rothschild, Marlène Rio, Giuseppe Fiermonte, Ferechté Encha-Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben-Neriah, Noman Kadhom, Michel Vekemans, Tania Attié-Bitach, Arnold Munnich, Pierre Rustin, Laurence Colleaux |
| 340-348 | Constitutional Rearrangement of the Architectural Factor HMGA2 | Azra H. Ligon, Steven D.P. Moore, Melissa A. Parisi, Matthew E. Mealiffe, David J. Harris, Heather L. Ferguson, Bradley J. Quade, Cynthia C. Morton |
| 349-357 | Fine Mapping and Positional Candidate Studies Identify HLA-G | Dan Nicolae, Nancy J. Cox, Lucille A. Lester, Daniel Schneider, Zheng Tan, Christine Billstrand, Susan Kuldanek, Joseph Donfack, Paul Kogut, Nina M. Patel, Jeffrey Goodenbour, Timothy Howard, Raoul Wolf, Gerard H. Koppelman, Steven R. White, Rodney Parry, Dirkje S. Postma, Deborah Meyers, Eugene R. Bleecker, Joan S. Hunt, et al. | |
| 358-360 | Mutations in the d | Eduard A. Struys, Gajja S. Salomons, Younes Achouri, Emile Van Schaftingen, Salvatore Grosso, William J. Craigen, Nanda M. Verhoeven, Cornelis Jakobs |
| 361-367 | Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation | Kenneth E. White, Jose M. Cabral, Siobhan I. Davis, Tonya Fishburn, Wayne E. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil J. McLellan, Carole McKeown, David FitzPatrick, Kai Yu, David M. Ornitz, Michael J. Econs |
| 368-369 | The Genetics of Renal Disease. | Peter C. Harris |
| 368 | Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. | Julie Ann Neidich |
| 370-372 | Announcements | |
| 373 | ERRATUM | |
| 373 | ERRATUM | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 375-386 | The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy | Silvère M. van der Maarel, Rune R. Frants |
| 387-398 | Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations | Jakob C. Mueller, Elin Lõhmussaar, Reedik Mägi, Maido Remm, Thomas Bettecken, Peter Lichtner, Saskia Biskup, Thomas Illig, Arne Pfeufer, Jan Luedemann, Stefan Schreiber, Peter Pramstaller, Irene Pichler, Giovanni Romeo, Anthony Gaddi, Alessandra Testa, Heinz-Erich Wichmann, Andres Metspalu, Thomas Meitinger |
| 399-408 | Rapid Simulation of P | S.R. Seaman, B. Müller-Myhsok |
| 409-420 | Functional Consequences of PRODH | Hans-Ulrich Bender, Shlomo Almashanu, Gary Steel, Chien-An Hu, Wei-Wen Lin, Alecia Willis, Ann Pulver, David Valle |
| 421-426 | PHOX2B | Delphine Trochet, Louise M. O'Brien, David Gozal, Ha Trang, Agneta Nordenskjöld, Béatrice Laudier, Pär-Johan Svensson, Sabine Uhrig, Trevor Cole, Arnold Munnich, Claude Gaultier, Stanislas Lyonnet, Jeanne Amiel |
| 427-437 | Possible Genomic Imprinting of Three Human Obesity–Related Genetic Loci | Chuanhui Dong, Wei-Dong Li, Frank Geller, Lei Lei, Ding Li, Olga Y. Gorlova, Johannes Hebebrand, Christopher I. Amos, Robert D. Nicholls, R. Arlen Price |
| 438-448 | Accuracy of Haplotype Reconstruction from Haplotype-Tagging Single-Nucleotide Polymorphisms | Julian Forton, Dominic Kwiatkowski, Kirk Rockett, Gaia Luoni, Martin Kimber, Jeremy Hull |
| 449-462 | Accounting for Decay of Linkage Disequilibrium in Haplotype Inference and Missing-Data Imputation | Matthew Stephens, Paul Scheet |
| 463-477 | Population Structure, Admixture, and Aging-Related Phenotypes in African American Adults: The Cardiovascular Health Study | Alexander P. Reiner, Elad Ziv, Denise L. Lind, Caroline M. Nievergelt, Nicholas J. Schork, Steven R. Cummings, Angie Phong, Esteban González Burchard, Tamara B. Harris, Bruce M. Psaty, Pui-Yan Kwok |
| 478-492 | Regulation of α-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA | Ornit Chiba-Falek, Jeffrey A. Kowalak, Mark E. Smulson, Robert L. Nussbaum |
| 493-504 | Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome | Houda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzales, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne-Pasquier, Anne-Lise Delezoide, et al. | |
| 505-509 | Association between the Gene Encoding 5-Lipoxygenase–Activating Protein and Stroke Replicated in a Scottish Population | A. Helgadottir, S. Gretarsdottir, D. St. Clair, A. Manolescu, J. Cheung, G. Thorleifsson, A. Pasdar, S.F.A. Grant, L.J. Whalley, H. Hakonarson, U. Thorsteinsdottir, A. Kong, J. Gulcher, K. Stefansson, M.J. MacLeod |
| 510-516 | Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy | Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Alanis, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G.J. Jaspers, Jacques S. Beckmann, Charles E. Jackson, Stephen W. Scherer |
| 517-521 | No Evidence of Association or Interaction between the IL4RA, IL4, and IL13 Genes in Type 1 Diabetes | Lisa M. Maier, Juliet Chapman, Joanna M.M. Howson, David G. Clayton, Rebecca Pask, David P. Strachan, Wendy L. McArdle, Rebecca C.J. Twells, John A. Todd |
| 522-527 | A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN | Jodie N. Painter, Hanna Tapanainen, Mirja Somer, Pentti Tukiainen, Kristiina Aittomäki |
| 528-537 | Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus | Snaevar Sigurdsson, Gunnel Nordmark, Harald H.H. Göring, Katarina Lindroos, Ann-Christin Wiman, Gunnar Sturfelt, Andreas Jönsen, Solbritt Rantapää-Dahlqvist, Bozena Möller, Juha Kere, Sari Koskenmies, Elisabeth Widén, Maija-Leena Eloranta, Heikki Julkunen, Helga Kristjansdottir, Kristjan Steinsson, Gunnar Alm, Lars Rönnblom, Ann-Christine Syvänen |
| 538-542 | Association Testing in a Linked Region Using Large Pedigrees | Rita M. Cantor, Gary K. Chen, Päivi Pajukanta, Kenneth Lange |
| 543 | The Principles of Clinical Cytogenetics, second edition. | Gail Stetten |
| 544-545 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 547 | Embracing Our Duty | Susanne B. Haga |
| 548-560 | Population Genetics of CAPN10 | J. Vander Molen, L.M. Frisse, S.M. Fullerton, Y. Qian, L. del Bosque-Plata, R.R. Hudson, A. Di Rienzo |
| 561-571 | Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 | Lindsey A. Criswell, Kirsten A. Pfeiffer, Raymond F. Lum, Bonnie Gonzales, Jill Novitzke, Marlena Kern, Kathy L. Moser, Ann B. Begovich, Victoria E.H. Carlton, Wentian Li, Annette T. Lee, Ward Ortmann, Timothy W. Behrens, Peter K. Gregersen |
| 572-580 | Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP | Jeroen H. Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert-Jan B. van Ommen, Martijn H. Breuning, Raoul C. Hennekam, Dorien J.M. Peters |
| 581-591 | Strong Evidence That KIAA0319 | Natalie Cope, Denise Harold, Gary Hill, Valentina Moskvina, Jim Stevenson, Peter Holmans, Michael J. Owen, Michael C. O’Donovan, Julie Williams |
| 592-608 | Genetic Association Analysis Using Data from Triads and Unrelated Subjects | Michael P. Epstein, Colin D. Veal, Richard C. Trembath, Jonathan N.W.N. Barker, Chun Li, Glen A. Satten |
| 609-622 | Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 | Jennifer J. Johnston, Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle A. Fox, John M. Graham Jr., Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, et al. | |
| 623-633 | Variation in Antiviral 2′,5′-Oligoadenylate Synthetase (2′5′AS) Enzyme Activity Is Controlled by a Single-Nucleotide Polymorphism at a Splice-Acceptor Site in the OAS1 | Vagn Bonnevie-Nielsen, L. Leigh Field, Shao Lu, Dong-Jun Zheng, Min Li, Pia M. Martensen, Thomas B. Nielsen, Henning Beck-Nielsen, Yu-Lung Lau, Flemming Pociot |
| 634-646 | A High-Resolution Linkage-Disequilibrium Map of the Human Major Histocompatibility Complex and First Generation of Tag Single-Nucleotide Polymorphisms | Marcos M. Miretti, Emily C. Walsh, Xiayi Ke, Marcos Delgado, Mark Griffiths, Sarah Hunt, Jonathan Morrison, Pamela Whittaker, Eric S. Lander, Lon R. Cardon, David R. Bentley, John D. Rioux, Stephan Beck, Panos Deloukas |
| 647-651 | Genomewide Significant Linkage to Stuttering on Chromosome 12 | Naveeda Riaz, Stacy Steinberg, Jamil Ahmad, Anna Pluzhnikov, Sheikh Riazuddin, Nancy J. Cox, Dennis Drayna |
| 652-662 | Position Effects Due to Chromosome Breakpoints that Map  900 Kb Upstream and 1.3 Mb Downstream of SOX9 | Gopalrao V.N. Velagaleti, Gabriel A. Bien-Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Pawel Stankiewicz |
| 663-671 | Fine Mapping of Chromosome 17 Translocation Breakpoints  900 Kb Upstream of SOX9 | Katherine L. Hill-Harfe, Lee Kaplan, Heather J. Stalker, Roberto T. Zori, Ramona Pop, Gerd Scherer, Margaret R. Wallace |
| 672-680 | Identification of a Novel LRRK2 | Jennifer Kachergus, Ignacio F. Mata, Mary Hulihan, Julie P. Taylor, Sarah Lincoln, Jan Aasly, J. Mark Gibson, Owen A. Ross, Timothy Lynch, Joseph Wiley, Haydeh Payami, John Nutt, Demetrius M. Maraganore, Krzysztof Czyzewski, Maria Styczynska, Zbigniew K. Wszolek, Matthew J. Farrer, Mathias Toft |
| 681-687 | A Comparison of Linkage Disequilibrium Patterns and Estimated Population Recombination Rates across Multiple Populations | David M. Evans, Lon R. Cardon |
| 688-695 | Effects of Updating Linkage Evidence across Subsets of Data: Reanalysis of the Autism Genetic Resource Exchange Data Set | Christopher W. Bartlett, Rhinda Goedken, Veronica J. Vieland |
| 696-704 | Gene-Environment Interaction Effects on the Development of Immune Responses in the 1st Year of Life | Sabine Hoffjan, Dan Nicolae, Irina Ostrovnaya, Kathy Roberg, Michael Evans, Daniel B. Mirel, Lori Steiner, Karen Walker, Peter Shult, Ronald E. Gangnon, James E. Gern, Fernando D. Martinez, Robert F. Lemanske Jr., Carole Ober |
| 705-707 | No Convincing Evidence of Linkage for Restless Legs Syndrome on Chromosome 9p | Amrita Ray, Daniel E. Weeks |
| 707-710 | Reply to Ray and Weeks: Linkage for Restless Legs Syndrome on Chromosome 9p Is Significant | Shenghan Chen, Lin Li, Shaoqi Rao, William G. Ondo, Qing Wang |
| 711-712 | The X in Sex: How the X Chromosome Controls our Lives. | Barbara Migeon |
| 713-714 | Announcements | |
| 715 | Erratum | |
| 715 | Erratum | |
| 715 | Erratum | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 717-728 | Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings | C. Geoffrey Woods, Jacquelyn Bond, Wolfgang Enard |
| 729-749 | Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis | Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo D. Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller |
| 750-762 | Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome | Pawandeep Dhami, Alison J. Coffey, Stephen Abbs, Joris R. Vermeesch, Jan P. Dumanski, Karen J. Woodward, Robert M. Andrews, Cordelia Langford, David Vetrie |
| 763-772 | Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study Design | Veronique Vitart, Andrew D. Carothers, Caroline Hayward, Peter Teague, Nicholas D. Hastie, Harry Campbell, Alan F. Wright |
| 773-779 | Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 | Adrian Vella, Jason D. Cooper, Christopher E. Lowe, Neil Walker, Sarah Nutland, Barry Widmer, Richard Jones, Susan M. Ring, Wendy McArdle, Marcus E. Pembrey, David P. Strachan, David B. Dunger, C.J. Rebecca Twells, David G. Clayton, John A. Todd |
| 780-793 | Nonparametric Tests of Association of Multiple Genes with Human Disease | Daniel J. Schaid, Shannon K. McDonnell, Scott J. Hebbring, Julie M. Cunningham, Stephen N. Thibodeau |
| 794-803 | Mutations in ABCA12 | P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Charles A. Mein, J. Patricia Dopping-Hepenstal, A. Beverly Dale, Gianluca Tadini, Philip Fleckman, G. Karen Stephens, P. Virginia Sybert, B. Susan Mallory, V. Bernard North, R. David Witt, Eli Sprecher, Aileen E. M. Taylor, Andrew Ilchyshyn, T. Cameron Kennedy, Helen Goodyear, et al. | |
| 804-814 | A Novel STX16 | Agnès Linglart, Robert C. Gensure, Robert C. Olney, Harald Jüppner, Murat Bastepe |
| 815-832 | Quantitative Founder-Effect Analysis of French Canadian Families Identifies Specific Loci Contributing to Metabolic Phenotypes of Hypertension | P. Hamet, E. Merlo, O. Šeda, U. Broeckel, J. Tremblay, M. Kaldunski, D. Gaudet, G. Bouchard, B. Deslauriers, F. Gagnon, G. Antoniol, Z. Pausová, M. Labuda, M. Jomphe, F. Gossard, G. Tremblay, R. Kirova, P. Tonellato, S.N. Orlov, J. Pintos, et al. | |
| 833-849 | Over- and Underdosage of SOX3 | Kathryn S. Woods, Maria Cundall, James Turton, Karine Rizotti, Ameeta Mehta, Rodger Palmer, Jacqueline Wong, W.K. Chong, Mahmoud Al-Zyoud, Maryam El-Ali, Timo Otonkoski, Juan-Pedro Martinez-Barbera, Q. Paul Thomas, C. Iain Robinson, Robin Lovell-Badge, J. Karen Woodward, T. Mehul Dattani |
| 850-858 | Identifying Candidate Hirschsprung Disease–Associated RET | Grzegorz M. Burzynski, Ilja M. Nolte, Agnes Bronda, Krista K. Bos, Jan Osinga, Ivan Plaza Menacho, Bas Twigt, Saskia Maas, Alice S. Brooks, B.G.M. Joke Verheij, H.C.M. Charles Buys, M.W. Robert Hofstra |
| 859-864 | Single- and Multilocus Allelic Variants within the GABAB Receptor Subunit 2 (GABAB2 | Joke Beuten, Jennie Z. Ma, Thomas J. Payne, Randolph T. Dupont, Karen M. Crews, Grant Somes, Nancy J. Williams, Robert C. Elston, Ming D. Li |
| 865-876 | Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome | Twila M. Yobb, Martin J. Somerville, Lionel Willatt, Helen V. Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E. Morrow, Lisa G. Shaffer, Melanie Babcock, Judy Chernos, Francois Bernier, Kathy Sprysak, Jesse Christiansen, Shelagh Haase, Basil Elyas, Margaret Lilley, Steven Bamforth, Heather E. McDermid |
| 877-882 | Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based Comparative Genomic Hybridization | M. Klaassens, M. van Dooren, H.J. Eussen, H. Douben, A.T. den Dekker, C. Lee, P.K. Donahoe, R.J. Galjaard, N. Goemaere, R.R. de Krijger, C. Wouters, J. Wauters, B.A. Oostra, D. Tibboel, A. de Klein |
| 883-886 | Saami and Berbers—An Unexpected Mitochondrial DNA Link | Alessandro Achilli, Chiara Rengo, Vincenza Battaglia, Maria Pala, Anna Olivieri, Simona Fornarino, Chiara Magri, Rosaria Scozzari, Nora Babudri, A. Silvana Santachiara-Benerecetti, Hans-Jürgen Bandelt, Ornella Semino, Antonio Torroni |
| 887-893 | A Note on Exact Tests of Hardy-Weinberg Equilibrium | Janis E. Wigginton, David J. Cutler, Gonçalo R. Abecasis |
| 894-901 | The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages | Matthew E. Hurles, Bryan C. Sykes, Mark A. Jobling, Peter Forster |
| 902-907 | The Epsin 4 | Jonathan Pimm, Andrew McQuillin, Srinivasa Thirumalai, Jacob Lawrence, Digby Quested, Nicholas Bass, Graham Lamb, Helen Moorey, Susmita R. Datta, Gursharan Kalsi, Allison Badacsonyi, Katie Kelly, Jenny Morgan, Bhaskar Punukollu, David Curtis, Hugh Gurling |
| 908-910 | Announcements | |
| i-ii | This Month in the Journal | KathrynGarber |
| 911-924 | Single-Gene Disorders: What Role Could Moonlighting Enzymes Play? | Ganesh Sriram, Julian A. Martinez, Edward R.B. McCabe, James C. Liao, Katrina M. Dipple |
| 925-933 | A Genomewide Exploration Suggests a New Candidate Gene at Chromosome 11q23 as the Major Determinant of Plasma Homocysteine Levels: Results from the GAIT Project | Juan Carlos Souto, Francisco Blanco-Vaca, José Manuel Soria, Alfonso Buil, Laura Almasy, Jordi Ordoñez-Llanos, Jesús Mª Martín-Campos, Mark Lathrop, William Stone, John Blangero, Jordi Fontcuberta |
| 934-949 | Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal | Mingyao Li, Michael Boehnke, Gonçalo R. Abecasis |
| 950-966 | Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A | Gabrielle Barnby, Aaron Abbott, Nuala Sykes, Andrew Morris, Daniel E. Weeks, Richard Mott, Janine Lamb, Anthony J. Bailey, Anthony P. Monaco and International Molecular Genetics Study of Autism Consortium (IMGSAC) |
| 967-986 | Rational Inferences about Departures from Hardy-Weinberg Equilibrium | Jacqueline K. Wittke-Thompson, Anna Pluzhnikov, Nancy J. Cox |
| 987-1007 | Alternative Splicing Suggests Extended Function of PEX26 | Sabine Weller, Ivelisse Cajigas, James Morrell, Cassandra Obie, Gary Steel, Stephen J. Gould, David Valle |
| 1008-1022 | Heterozygous Mutations of OTX2 | Nicola K. Ragge, Alison G. Brown, Charlotte M. Poloschek, Birgit Lorenz, R. Alex Henderson, Michael P. Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera, Piers Ruddle, Jane Hurst, J. Richard O. Collin, Alison Salt, Simon T. Cooper, Pamela J. Thompson, Sanjay M. Sisodiya, Kathleen A. Williamson, David R. FitzPatrick, Veronica van Heyningen, et al. | |
| 1023-1033 | Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome | Laura S. Schmidt, Michael L. Nickerson, Michelle B. Warren, Gladys M. Glenn, Jorge R. Toro, Maria J. Merino, Maria L. Turner, Peter L. Choyke, Nirmala Sharma, James Peterson, Patrick Morrison, Eamonn R. Maher, McClellan M. Walther, Berton Zbar, W. Marston Linehan |
| 1034-1049 | Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2 | Barbara Burwinkel, John W. Scott, Christoph Bührer, Frank K.H. van Landeghem, Gerald F. Cox, Callum J. Wilson, D. Grahame Hardie, Manfred W. Kilimann |
| 1050-1056 | Replication of Autism Linkage: Fine-Mapping Peak at 17q21 | Rita M. Cantor, Naoko Kono, Jackie A. Duvall, Ana Alvarez-Retuerto, Jennifer L. Stone, Maricela Alarcón, Stanley F. Nelson, Daniel H. Geschwind |
| 1057-1065 | A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families | Jian-Jun Chen, Wei Huang, Jin-Ping Gui, Sen Yang, Fu-Sheng Zhou, Quan-Geng Xiong, Hong-Bo Wu, Yong Cui, Min Gao, Wei Li, Jin-Xian Li, Kai-Lin Yan, Wen-Tao Yuan, Shi-Jie Xu, Jian-Jun Liu, Xue-Jun Zhang |
| 1066-1073 | In Silico | Ying Wang, Bruce Rannala |
| 1074-1080 | Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits | Kay D. MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie Coupe, Cecilia S.L. Lai, Sonja C. Vernes, Faraneh Vargha-Khadem, Fiona McKenzie, Robert L. Smith, Anthony P. Monaco, Simon E. Fisher |
| 1081-1086 | Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion | Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner-Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair Pagnamenta, Sharon Eshhar, Ann Saada |
| 1087-1088 | Human Evolutionary Genetics: Origins, Peoples and Disease. | Stephen L. Zegura |
| 1088 | Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology. | Katherine D. Mathews |
| 1089 | ERRATUM | |
| 1090-1091 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 1-15 | Identifying Novel Genes for Atherosclerosis through Mouse-Human Comparative Genetics | Xiaosong Wang, Naoki Ishimori, Ron Korstanje, Jarod Rollins, Beverly Paigen |
| 16-26 | Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3 | Wen-Qi Zeng, Eiman Al-Yamani, James S. Acierno, Susan Slaugenhaupt, Tammy Gillis, Marcy E. MacDonald, Pinar T. Ozand, James F. Gusella |
| 27-40 | An Entropy-Based Statistic for Genomewide Association Studies | Jinying Zhao, Eric Boerwinkle, Momiao Xiong |
| 41-53 | Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8 | Charles E. Schwartz, Melanie M. May, Nancy J. Carpenter, R. Curtis Rogers, Judith Martin, Martin G. Bialer, Jewell Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto Echeverri, Herbert A. Lubs, Kytja Voeller, Richard J. Simensen, Roger E. Stevenson |
| 54-63 | Mutations in PIP5K3 | Shouling Li, Leila Tiab, Xiaodong Jiao, Francis L. Munier, Leonidas Zografos, Béatrice E. Frueh, Yuri Sergeev, Janine Smith, Benjamin Rubin, Mario A. Meallet, Richard K. Forster, J. Fielding Hejtmancik, Daniel F. Schorderet |
| 64-77 | Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels | Christopher S. Carlson, Shelley Force Aldred, Philip K. Lee, Russell P. Tracy, Stephen M. Schwartz, Mark Rieder, Kiang Liu, O. Dale Williams, Carlos Iribarren, E. Cora Lewis, Myriam Fornage, Eric Boerwinkle, Myron Gross, Cashell Jaquish, Deborah A. Nickerson, Richard M. Myers, David S. Siscovick, Alexander P. Reiner |
| 78-88 | Segmental Duplications and Copy-Number Variation in the Human Genome | Andrew J. Sharp, Devin P. Locke, Sean D. McGrath, Ze Cheng, Jeffrey A. Bailey, Rhea U. Vallente, Lisa M. Pertz, Royden A. Clark, Stuart Schwartz, Rick Segraves, Vanessa V. Oseroff, Donna G. Albertson, Daniel Pinkel, Evan E. Eichler |
| 89-96 | Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX | Katja U. Schneider, Nitin Sabherwal, Karin Jantz, Ralph Röth, Nadja Muncke, Werner F. Blum, Gordon B. Cutler, Gudrun Rappold |
| 97-111 | A Powerful and Robust Method for Mapping Quantitative Trait Loci in General Pedigrees | G. Diao, D.Y. Lin |
| 112-119 | Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects | Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop |
| 120-126 | Homozygous Nonsense Mutations in KIAA1279 | Alice S. Brooks, Aida M. Bertoli-Avella, Grzegorz M. Burzynski, Guido J. Breedveld, Jan Osinga, Ludolf G. Boven, Jane A. Hurst, Grazia M.S. Mancini, Maarten H. Lequin, Rene F. de Coo, Ivana Matera, Esther de Graaff, Carel Meijers, Patrick J. Willems, Dick Tibboel, Ben A. Oostra, Robert M.W. Hofstra |
| 127-131 | Disentangling Fetal and Maternal Susceptibility for Pre-Eclampsia: A British Multicenter Candidate-Gene Study | GOPEC Consortium |
| 132-139 | Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells | Lisa D. McDaniel, Darrell J. Tomkins, Eric J. Stanbridge, Martin J. Somerville, Errol C. Friedberg, Roger A. Schultz |
| 140-148 | Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia | Axel M. Hillmer, Sandra Hanneken, Sibylle Ritzmann, Tim Becker, Jan Freudenberg, Felix F. Brockschmidt, Antonia Flaquer, Yun Freudenberg-Hua, Rami Abou Jamra, Christine Metzen, Uwe Heyn, Nadine Schweiger, Regina C. Betz, Bettina Blaumeiser, Jochen Hampe, Stefan Schreiber, Thomas G. Schulze, Hans Christian Hennies, Johannes Schumacher, Peter Propping, et al. | |
| 149-153 | Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration | Sepideh Zareparsi, Kari E.H. Branham, Mingyao Li, Sapna Shah, Robert J. Klein, Jurg Ott, Josephine Hoh, Gonçalo R. Abecasis, Anand Swaroop |
| 154-160 | 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome | Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw-Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker, F. Lucy Raymond |
| 161-168 | Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS | Roberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, John Harper, Atsushi Hatamochi, Saori Hatamochi-Hayashi, Dobrawa Napierala, Pia Hermanns, Sinead Collins, Benjamin B. Roa, Madhuri R. Hedge, Keiko Wakui, Diep Nguyen, David W. Stockton, Brendan Lee |
| 169 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber |
| 171-192 | How Malaria Has Affected the Human Genome and What Human Genetics Can Teach Us about Malaria | Dominic P. Kwiatkowski |
| 193-204 | Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 | Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor R.P. Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier-Daire, Alexandre Irrthum, Nazneen Rahman and Childhood Overgrowth Collaboration |
| 205-218 | Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 | D. Beysen, J. Raes, B.P. Leroy, A. Lucassen, J.R.W. Yates, J. Clayton-Smith, H. Ilyina, S. Sklower Brooks, S. Christin-Maitre, M. Fellous, J.P. Fryns, J.R. Kim, P. Lapunzina, E. Lemyre, F. Meire, L.M. Messiaen, C. Oley, M. Splitt, J. Thomson, Y. Van de Peer, et al. | |
| 219-229 | A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer–Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics | Jianfeng Xu, Latchezar Dimitrov, Bao-Li Chang, Tamara S. Adams, Aubrey R. Turner, Deborah A. Meyers, Rosalind A. Eeles, Douglas F. Easton, William D. Foulkes, Jacques Simard, Graham G. Giles, John L. Hopper, Lovise Mahle, Pal Moller, Tim Bishop, Chris Evans, Steve Edwards, Julia Meitz, Sarah Bullock, Questa Hope ACTANE Consortium, et al. | |
| 230-241 | Weighting Affected Sib Pairs by Marker Informativity | Daniel Franke, Andreas Ziegler |
| 242-251 | A Mutation in SNAP29, | Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J. O’Brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel |
| 252-264 | Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease | Sofia A. Oliveira, Yi-Ju Li, Maher A. Noureddine, Stephan Züchner, Xuejun Qin, Margaret A. Pericak-Vance, Jeffery M. Vance |
| 265-279 | Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4 | James S. Sutcliffe, Ryan J. Delahanty, Harish C. Prasad, Jacob L. McCauley, Qiao Han, Lan Jiang, Chun Li, Susan E. Folstein, Randy D. Blakely |
| 280-296 | An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains | Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, Mingshun Li, Kazuhiro Kobayashi, Takanori Yokota, Takeshi Amino, Kiyoshi Owada, Hiroto Fujigasaki, Masaki Sakamoto, Hiroyuki Tomimitsu, Minoru Takashima, Jiro Kumagai, Yoshihiro Noguchi, Yoshiyuki Kawashima, Norio Ohkoshi, Gen Ishida, Manabu Gomyoda, Mari Yoshida, Yoshio Hashizume, et al. | |
| 297-304 | A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy | Matthias Vorgerd, Peter F.M. van der Ven, Vera Bruchertseifer, Thomas Löwe, Rudolf A. Kley, Rolf Schröder, Hanns Lochmüller, Mirko Himmel, Katrin Koehler, Dieter O. Fürst, Angela Huebner |
| 305-312 | Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia | Qiping Zheng, Eiman Sebald, Guang Zhou, Yuqing Chen, William Wilcox, Brendan Lee, Deborah Krakow |
| 313-317 | A “Fille du Roy | Anne-Marie Laberge, Michèle Jomphe, Louis Houde, Hélène Vézina, Marc Tremblay, Bertrand Desjardins, Damian Labuda, Marc St-Hilaire, Carol Macmillan, Eric A. Shoubridge, Bernard Brais |
| 318-326 | A Genomewide Scan for Intelligence Identifies Quantitative Trait Loci on 2q and 6p | Danielle Posthuma, Michelle Luciano, Eco J. C. de Geus, Margie J. Wright, P. Eline Slagboom, Grant W. Montgomery, Dorret I. Boomsma, Nicholas G. Martin |
| 327-328 | Use of the Term “Antley-Bixler Syndrome”: Minimizing Confusion | Deborah Cragun, Robert J. Hopkin |
| 328-330 | “Antley-Bixler Syndrome”—A Reply to Cragun and Hopkin | Walter L. Miller |
| 330-332 | LRRK2 | Suzanne Lesage, Anne-Louise Leutenegger, Pablo Ibanez, Sabine Janin, Ebba Lohmann, Alexandra Dürr, Alexis Brice and French Parkinson’s Disease Genetics Study Group |
| 333 | Guide to Mutation Detection | Bradford Coffee |
| 334 | Erratum | |
| 335-336 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber, Robin E. Williamson |
| 337-345 | Recent Developments in Genomewide Association Scans: A Workshop Summary and Review | Duncan C. Thomas, Robert W. Haile, David Duggan |
| 346-354 | An Algorithm to Construct Genetically Similar Subsets of Families with the Use of Self-Reported Ethnicity Information | Andrew D. Skol, Rui Xiao, Michael Boehnke and Veterans Affairs Cooperative Study 366 Investigators |
| 355-364 | Differential X Reactivation in Human Placental Cells: Implications for Reversal of X Inactivation | Barbara R. Migeon, Joyce Axelman, Peter Jeppesen |
| 365-376 | Genomewide Linkage Study in 1,176 Affected Sister Pair Families Identifies a Significant Susceptibility Locus for Endometriosis on Chromosome 10q26 | Susan A. Treloar, Jacqueline Wicks, Dale R. Nyholt, Grant W. Montgomery, Melanie Bahlo, Vicki Smith, Gary Dawson, Ian J. Mackay, Daniel E. Weeks, Simon T. Bennett, Alisoun Carey, Kelly R. Ewen-White, David L. Duffy, Daniel T. O’Connor, David H. Barlow, Nicholas G. Martin, Stephen H. Kennedy |
| 377-388 | Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism | D.Q. Ma, P.L. Whitehead, M.M. Menold, E.R. Martin, A.E. Ashley-Koch, H. Mei, M.D. Ritchie, G.R. DeLong, R.K. Abramson, H.H. Wright, M.L. Cuccaro, J.P. Hussman, J.R. Gilbert, M.A. Pericak-Vance |
| 389-407 | Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26 | Johanna Jakobsdottir, Yvette P. Conley, Daniel E. Weeks, Tammy S. Mah, Robert E. Ferrell, Michael B. Gorin |
| 408-419 | Y-Chromosome Evidence of Southern Origin of the East Asian–Specific Haplogroup O3-M122 | Hong Shi, Yong-li Dong, Bo Wen, Chun-Jie Xiao, Peter A. Underhill, Pei-dong Shen, Ranajit Chakraborty, Li Jin, Bing Su |
| 420-429 | A High-Density SNP Genomewide Linkage Scan for Chronic Lymphocytic Leukemia–Susceptibility Loci | Gabrielle S. Sellick, Emily L. Webb, Ruth Allinson, Estella Matutes, Martin J.S. Dyer, Viggo Jønsson, Anton W. Langerak, Francesca R. Mauro, Stephen Fuller, James Wiley, Matthew Lyttelton, Vincenzo Callea, Martin Yuille, Daniel Catovsky, Richard S. Houlston |
| 430-441 | Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin | Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T. Luoma, Maria Rantamäki, Gert Van Goethem, Ann Löfgren, Peter Hackman, Anders Paetau, Seppo Kaakkola, Kari Majamaa, Teppo Varilo, Bjarne Udd, Helena Kääriäinen, Laurence A. Bindoff, Anu Suomalainen |
| 442-453 | Duplication of the MECP2 | Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean-Pierre Fryns, Guy Froyen |
| 454-467 | A High-Density Screen for Linkage in Multiple Sclerosis | International Multiple Sclerosis Genetics Consortium |
| 468-476 | Genetic Evidence for a Distinct Subtype of Schizophrenia Characterized by Pervasive Cognitive Deficit | Joachim F. Hallmayer, Luba Kalaydjieva, Johanna Badcock, Milan Dragović, Sarah Howell, Patricia T. Michie, Daniel Rock, David Vile, Rachael Williams, Elizabeth H. Corder, Kate Hollingsworth, Assen Jablensky |
| 477-483 | Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification | Kym M. Boycott, Shauna Flavelle, Alexandre Bureau, Hannah C. Glass, T. Mary Fujiwara, Elaine Wirrell, Krista Davey, Albert E. Chudley, James N. Scott, D. Ross McLeod, Jillian S. Parboosingh |
| 484-490 | A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1 | LindsayGleghorn, Rajkumar Ramesar, Peter Beighton, Gillian Wallis |
| 491-499 | The BTNL2 | Benjamin A. Rybicki, José L. Walewski, Mary J. Maliarik, Hamed Kian, Michael C. Iannuzzi and ACCESS Research Group |
| 500-512 | Genomewide Significant Linkage to Migrainous Headache on Chromosome 5q21 | Dale R. Nyholt, Katherine I. Morley, Manuel A.R. Ferreira, Sarah E. Medland, Dorret I. Boomsma, Andrew C. Heath, Kathleen R. Merikangas, Grant W. Montgomery, Nicholas G. Martin |
| 513-514 | On Rapid Simulation of P | D.Y. Lin |
| 514-515 | Reply to Lin | S.R. Seaman, B. Müller-Myhsok |
| 516-517 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber, Robin E. Williamson |
| 519-532 | The Use of Racial, Ethnic, and Ancestral Categories in Human Genetics Research | Race Ethnicity, and Genetics Working Group |
| 533-544 | A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX | Sara Benito-Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza-Carmona, John A. Crolla, Vivienne Maloney, Jesús Argente, Ángel Campos-Barros, Valérie Cormier-Daire, Karen E. Heath |
| 545-555 | Assessment of the Effect of Age at Onset on Linkage to Bipolar Disorder: Evidence on Chromosomes 18p and 21q | Ping-I Lin, Melvin G. McInnis, James B. Potash, Virginia L. Willour, Dean F. MacKinnon, Kuangyi Miao, J. Raymond DePaulo, Peter P. Zandi |
| 556-566 | Meiotic Synapsis Proceeds from a Limited Number of Subtelomeric Sites in the Human Male | Petrice W. Brown, LuAnn Judis, E. Ricky Chan, Stuart Schwartz, Allen Seftel, Anthony Thomas, Terry J. Hassold |
| 567-581 | PTPN22 | Victoria E.H. Carlton, Xiaolan Hu, Anand P. Chokkalingam, Steven J. Schrodi, Rhonda Brandon, Heather C. Alexander, Monica Chang, Joseph J. Catanese, Diane U. Leong, Kristin G. Ardlie, Daniel L. Kastner, Michael F. Seldin, Lindsey A. Criswell, Peter K. Gregersen, Ellen Beasley, Glenys Thomson, Christopher I. Amos, Ann B. Begovich |
| 582-595 | Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q | Matthew B. McQueen, B. Devlin, Stephen V. Faraone, Vishwajit L. Nimgaonkar, Pamela Sklar, Jordan W. Smoller, Rami Abou Jamra, Margot Albus, Silviu-Alin Bacanu, Miron Baron, Thomas B. Barrett, Wade Berrettini, Deborah Blacker, William Byerley, Sven Cichon, Willam Coryell, Nick Craddock, Mark J. Daly, J. Raymond DePaulo, Howard J. Edenberg, et al. | |
| 596-605 | Identification of Four Gene Variants Associated with Myocardial Infarction | Dov Shiffman, Stephen G. Ellis, Charles M. Rowland, Mary J. Malloy, May M. Luke, Olga A. Iakoubova, Clive R. Pullinger, June Cassano, Bradley E. Aouizerat, Raymond G. Fenwick, Richard E. Reitz, Joseph J. Catanese, Diane U. Leong, Christian Zellner, John J. Sninsky, Eric J. Topol, James J. Devlin, John P. Kane |
| 606-616 | Diagnostic Genome Profiling in Mental Retardation | Bert B.A. de Vries, Rolph Pfundt, Martijn Leisink, David A. Koolen, Lisenka E.L.M. Vissers, Irene M. Janssen, Simon van Reijmersdal, Willy M. Nillesen, Erik H.L.P.G. Huys, Nicole de Leeuw, Dominique Smeets, Erik A. Sistermans, Ton Feuth, Conny M.A. van Ravenswaaij-Arts, Ad Geurts van Kessel, Eric F.P.M. Schoenmakers, Han G. Brunner, Joris A. Veltman |
| 617-626 | A Variant in XPNPEP2 | Qing Ling Duan, Borzoo Nikpoor, Marie-Pierre Dubé, Giuseppe Molinaro, Inge A. Meijer, Patrick Dion, Daniel Rochefort, Judith Saint-Onge, Leah Flury, Nancy J. Brown, James V. Gainer, Jean L. Rouleau, Angelo Agostoni, Massimo Cugno, Pierre Simon, Pierre Clavel, Jacky Potier, Bassem Wehbe, Seddik Benarbia, Julien Marc-Aurèle, et al. | |
| 627-636 | A Hybrid Design for Studying Genetic Influences on Risk of Diseases with Onset Early in Life | C.R. Weinberg, D.M. Umbach |
| 637-642 | The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria | Elizabeth T. Wood, Daryn A. Stover, Montgomery Slatkin, Michael W. Nachman, Michael F. Hammer |
| 643-652 | Linkage and Association Studies Identify a Novel Locus for Alzheimer Disease at 7q36 in a Dutch Population-Based Sample | Rosa Rademakers, Marc Cruts, Kristel Sleegers, Bart Dermaut, Jessie Theuns, Yurii Aulchenko, Stefan Weckx, Tim De Pooter, Marleen Van den Broeck, Ellen Corsmit, Peter De Rijk, Jurgen Del-Favero, John van Swieten, Cornelia M. van Duijn, Christine Van Broeckhoven |
| 653-660 | Loss of Desmoplakin Tail Causes Lethal Acantholytic Epidermolysis Bullosa | Marcel F. Jonkman, Anna M.G. Pasmooij, Suzanne G.M.A. Pasmans, Maarten P. van den Berg, Henk J. ter Horst, Albertus Timmer, Hendri H. Pas |
| 661-669 | Linkage Disequilibrium Mapping of Quantitative-Trait Loci by Selective Genotyping | Zehua Chen, Gang Zheng, Kaushik Ghosh, Zhaohai Li |
| 670-675 | Sex, Not Genotype, Determines Recombination Levels in Mice | Audrey Lynn, Stefanie Schrump, Jonathan Cherry, Terry Hassold, Patricia Hunt |
| 676-680 | Charting the Ancestry of African Americans | Antonio Salas, Ángel Carracedo, Martin Richards, Vincent Macaulay |
| 681 | Neurofibromatosis: A Handbook for Patients, Families, and Healthcare Professionals, | David Viskochil |
| 682-683 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber, Robin E. Williamson |
| 685-693 | High-Resolution Whole-Genome Association Study of Parkinson Disease | Demetrius M. Maraganore, Mariza de Andrade, Timothy G. Lesnick, Kari J. Strain, Matthew J. Farrer, Walter A. Rocca, P.V. Krishna Pant, Kelly A. Frazer, David R. Cox, Dennis G. Ballinger |
| 694-708 | Mutations in TCF8 | Charles M. Krafchak, Hemant Pawar, Sayoko E. Moroi, Alan Sugar, Paul R. Lichter, David A. Mackey, Shahzad Mian, Theresa Nairus, Victor Elner, Miriam T. Schteingart, Catherine A. Downs, Theresa Guckian Kijek, Jenae M. Johnson, Edward H. Trager, Frank W. Rozsa, Md Nawajes Ali Mandal, Michael P. Epstein, Douglas Vollrath, Radha Ayyagari, Michael Boehnke, et al. | |
| 709-726 | High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs | Howard R. Slater, Dione K. Bailey, Hua Ren, Manqiu Cao, Katrina Bell, Steven Nasioulas, Robert Henke, K.H. Andy Choo, Giulia C. Kennedy |
| 727-740 | Multiple Correcting COL17A1 | Anna M.G. Pasmooij, Hendri H. Pas, Franciska C.L. Deviaene, Miranda Nijenhuis, Marcel F. Jonkman |
| 741-753 | Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome | Minrong Ai, Shauna Heeger, Cynthia F. Bartels, Deborah K. Schelling and Osteoporosis-Pseudoglioma Collaborative Group |
| 754-767 | Handling Marker-Marker Linkage Disequilibrium: Pedigree Analysis with Clustered Markers | Gonçalo R. Abecasis, Janis E. Wigginton |
| 768-780 | A Constrained-Likelihood Approach to Marker-Trait Association Studies | Kai Wang, Val C. Sheffield |
| 781-794 | A Novel Method with Improved Power To Detect Recombination Hotspots from Polymorphism Data Reveals Multiple Hotspots in Human Genes | Paul Fearnhead, Nick G.C. Smith |
| 795-806 | Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP | Christian T. Thiel, Denise Horn, Bernhard Zabel, Arif B. Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller, Christiane Zweier, Mark E. Schmitt, André Reis, Anita Rauch |
| 807-823 | Promoter and 3′-Untranslated-Region Haplotypes in the Vitamin D Receptor Gene Predispose to Osteoporotic Fracture: The Rotterdam Study | Yue Fang, Joyce B.J. van Meurs, Arnold d'Alesio, Mila Jhamai, Hongyan Zhao, Fernando Rivadeneira, Albert Hofman, Johannes P.T. van Leeuwen, Frédéric Jehan, Huibert A.P. Pols, André G. Uitterlinden |
| 824-840 | Evidence for Widespread Reticulate Evolution within Human Duplicons | Michael S. Jackson, Karen Oliver, Jane Loveland, Sean Humphray, Ian Dunham, Mariano Rocchi, Luigi Viggiano, Jonathan P. Park, Matthew E. Hurles, Mauro Santibanez-Koref |
| 841-850 | Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants | Mehrdad Khajavi, Ken Inoue, Wojciech Wiszniewski, Tomoko Ohyama, G. Jackson Snipes, James R. Lupski |
| 851-868 | Support for the Homeobox Transcription Factor Gene ENGRAILED 2 | Rym Benayed, Neda Gharani, Ian Rossman, Vincent Mancuso, Gloria Lazar, Silky Kamdar, Shannon E. Bruse, Samuel Tischfield, Brett J. Smith, Raymond A. Zimmerman, Emanuel DiCicco-Bloom, Linda M. Brzustowicz, James H. Millonig |
| 869-886 | The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate-Immunity CD209/CD209L | Luis B. Barreiro, Etienne Patin, Olivier Neyrolles, Howard M. Cann, Brigitte Gicquel, Lluís Quintana-Murci |
| 887-891 | Children with Idiopathic Hemihypertrophy and Beckwith-Wiedemann Syndrome Have Different Constitutional Epigenotypes Associated with Wilms Tumor | Emily L. Niemitz, Andrew P. Feinberg, Sheri A. Brandenburg, Paul E. Grundy, Michael R. DeBaun |
| 892-894 | Narrowing the Candidate Region for Congenital Diaphragmatic Hernia in Chromosome 15q26: Contradictory Results | L. Castiglia, M. Fichera, C. Romano, O. Galesi, L. Grillo, M. Sturnio, P. Failla |
| 894-895 | Reply to Castiglia et al. | M. Klaassens, D. Tibboel, B.A. Oostra, A. de Klein |
| 896 | Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. | Robin L. Bennett |
| 896-897 | Genetics of Developmental Disabilities. | Michel Vekemans |
| 898 | Erratum | |
| 899-901 | Announcements | |
| i-ii | This Month in the Journal | Kathryn Garber, Robin E. Williamson |
| 903 | Letter from the Editor | Steve Warren |
| 904-908 | Editorial Reviewers for 2005 | |
| 909-917 | A Homozygous Missense Mutation in TGM5 | Andrew J. Cassidy, Maurice A.M. van Steensel, Peter M. Steijlen, Michel van Geel, Jaap van der Velden, Susan M. Morley, Alessandro Terrinoni, Gerry Melino, Eleonora Candi, W.H. Irwin McLean |
| 918-936 | Bipolar I Disorder and Schizophrenia: A 440–Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios | M. Daniele Fallin, Virginia K. Lasseter, Dimitrios Avramopoulos, Kristin K. Nicodemus, Paula S. Wolyniec, John A. McGrath, Gary Steel, Gerald Nestadt, Kung-Yee Liang, Richard L. Huganir, David Valle, Ann E. Pulver |
| 937-944 | Genomewide High-Density SNP Linkage Analysis of 236 Japanese Families Supports the Existence of Schizophrenia Susceptibility Loci on Chromosomes 1p, 14q, and 20p | The Japanese Schizophrenia Sib-Pair Linkage Group (JSSLG), Tadao Arinami, Tsuyuka Ohtsuki, Hiroki Ishiguro, Hiroshi Ujike, Yuji Tanaka, Yukitaka Morita, Mari Mineta, Masashi Takeichi, Shigeto Yamada, Akira Imamura, Koichi Ohara, Haruo Shibuya, Kenshiro Ohara, Yasuo Suzuki, Tatsuyuki Muratake, Naoshi Kaneko, Toshiyuki Someya, Toshiya Inada, Takeo Yoshikawa, et al. | |
| 945-957 | GJB2 | Rikkert L. Snoeckx, Patrick L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, et al. | |
| 958-965 | Preferential Transmission of Paternal Alleles at Risk Genes in Attention-Deficit/Hyperactivity Disorder | Ziarih Hawi, Ricardo Segurado, Judith Conroy, Karen Sheehan, Naomi Lowe, Aiveen Kirley, Denis Shields, Michael Fitzgerald, Louise Gallagher, Michael Gill |
| 966-987 | Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination | Karen J. Woodward, Maria Cundall, Karen Sperle, Erik A. Sistermans, Mark Ross, Gareth Howell, Susan M. Gribble, Deborah C. Burford, Nigel P. Carter, Donald L. Hobson, James Y. Garbern, John Kamholz, Henry Heng, M.E. Hodes, Sue Malcolm, Grace M. Hobson |
| 988-998 | The Effect of Single-Nucleotide Polymorphism Marker Selection on Patterns of Haplotype Blocks and Haplotype Frequency Estimates | Michael Nothnagel, Klaus Rohde |
| 999-1010 | Discriminating Power of Localized Three-Dimensional Facial Morphology | Peter Hammond, Tim J. Hutton, Judith E. Allanson, Bernard Buxton, Linda E. Campbell, Jill Clayton-Smith, Dian Donnai, Annette Karmiloff-Smith, Kay Metcalfe, Kieran C. Murphy, Michael Patton, Barbara Pober, Katrina Prescott, Pete Scambler, Adam Shaw, Ann C.M. Smith, Angela F. Stevens, I. Karen Temple, Raoul Hennekam, May Tassabehji |
| 1011-1020 | A Genomewide Linkage Study of 1,933 Families Affected by Premature Coronary Artery Disease: The British Heart Foundation (BHF) Family Heart Study | The BHF Family Heart Study Research Group |
| 1021-1033 | Comparative Genomics and Gene Expression Analysis Identifies BBS9, | Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield |
| 1034-1043 | The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor | Katherine L. Nathanson, Peter A. Kanetsky, Rachel Hawes, David J. Vaughn, Richard Letrero, Kathy Tucker, Michael Friedlander, Kelly-Anne Phillips, David Hogg, Michael A.S. Jewett, Radka Lohynska, Gedske Daugaard, Stéphane Richard, Agnès Chompret, Catherine Bonaïti-Pellié, Axel Heidenreich, Edith Olah, Lajos Geczi, Istvan Bodrogi, Wilma J. Ormiston, et al. | |
| 1044-1060 | Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, | Robert M. Plenge, Leonid Padyukov, Elaine F. Remmers, Shaun Purcell, Annette T. Lee, Elizabeth W. Karlson, Frederick Wolfe, Daniel L. Kastner, Lars Alfredsson, David Altshuler, Peter K. Gregersen, Lars Klareskog, John D. Rioux |
| 1061-1074 | The Role of Mannosylated Enzyme and the Mannose Receptor in Enzyme Replacement Therapy | Hong Du, Mark Levine, Chandrashekar Ganesa, David P. Witte, Edward S. Cole, Gregory A. Grabowski |
| 1075-1085 | Robust Estimation of Experimentwise P | Manuel A.R. Ferreira, Louise O'Gorman, Peter Le Souëf, Paul R. Burton, Brett G. Toelle, Colin F. Robertson, Peter M. Visscher, Nicholas G. Martin, David L. Duffy |
| 1086-1091 | Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder | Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horvath, Veronika Karcagi, Liesbeth Spruijt, I.F.M. de Coo, Hubert J.M. Smeets, Patrick F. Chinnery |
| 1092-1101 | NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome | Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria M. Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, Maria Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola |
| 1102-1111 | Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24 | Johannes Schumacher, Radka Kaneva, Rami Abou Jamra, Guillermo Orozco Diaz, Stephanie Ohlraun, Vihra Milanova, Young-Ae Lee, Fabio Rivas, Fermin Mayoral, Robert Fuerst, Antonia Flaquer, Christine Windemuth, Eudoxia Gay, Sebastian Sanz, Maria José González, Susana Gil, Francisco Cabaleiro, Francisco del Rio, Fermin Perez, Jesus Haro, et al. | |
| 1112-1116 | Recent Spread of a Y-Chromosomal Lineage in Northern China and Mongolia | Yali Xue, Tatiana Zerjal, Weidong Bao, Suling Zhu, Si-Keun Lim, Qunfang Shu, Jiujin Xu, Ruofu Du, Songbin Fu, Pu Li, Huanming Yang, Chris Tyler-Smith |
| 1117-1128 | Inactivating Mutations in ESCO2 | Birgitt Schüle, Angelica Oviedo, Kathreen Johnston, Shashidhar Pai, Uta Francke |
| 1129-1130 | Velo-cardio-facial Syndrome: A Model for Understanding Microdeletion Disorders. | Nathaniel H. Robin |
| 1130 | Genetic Testing for Cancer: Psychological Approaches for Helping Patients and Families. | Raluca Nedelcu MS, CGC |
| 1131 | Erratum | |
| 1132-1135 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1 | You Say Goodbye and I Say Hello… | Cynthia Casson Morton |
| 2-14 | Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria | Laurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, Frédéric Austerlitz, Vasco Da Silva, Patrick Brun, Sylvie Simonin, Saïd Lyoumi, Bernard Grandchamp, Carole Beaumont, Hervé Puy, Jean-Charles Deybach |
| 15-27 | A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis | Joshua Millstein, David V. Conti, Frank D. Gilliland, W. James Gauderman |
| 28-37 | Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype | D.B. Sparrow, G. Chapman, M.A. Wouters, N.V. Whittock, S. Ellard, D. Fatkin, P.D. Turnpenny, K. Kusumi, D. Sillence, S.L. Dunwoodie |
| 38-51 | Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome | Jaak Jaeken, Kevin Martens, Inge François, François Eyskens, Claudine Lecointre, Rita Derua, Sandra Meulemans, Jerry W. Slootstra, Etienne Waelkens, Francis de Zegher, John W.M. Creemers, Gert Matthijs |
| 52-62 | Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia | Johannes Schumacher, Heidi Anthoni, Faten Dahdouh, Inke R. König, Axel M. Hillmer, Nadine Kluck, Malou Manthey, Ellen Plume, Andreas Warnke, Helmut Remschmidt, Jutta Hülsmann, Sven Cichon, Cecilia M. Lindgren, Peter Propping, Marco Zucchelli, Andreas Ziegler, Myriam Peyrard-Janvid, Gerd Schulte-Körne, Markus M. Nöthen, Juha Kere |
| 63-77 | Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2 | Luca Cartegni, Michelle L. Hastings, John A. Calarco, Elisa de Stanchina, Adrian R. Krainer |
| 78-88 | A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease | Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S.K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, et al. | |
| 89-102 | Epimerase-Deficiency Galactosemia Is Not a Binary Condition | Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer Keenan, Kerri Lamance, Judith L. Fridovich-Keil |
| 103-111 | Functional Variant in a Bitter-Taste Receptor (hTAS2R16 | Anthony L. Hinrichs, Jen C. Wang, Bernd Bufe, Jennifer M. Kwon, John Budde, Rebecca Allen, Sarah Bertelsen, Whitney Evans, Danielle Dick, John Rice, Tatiana Foroud, John Nurnberger, Jay A. Tischfield, Samuel Kuperman, Raymond Crowe, Victor Hesselbrock, Marc Schuckit, Laura Almasy, Bernice Porjesz, Howard J. Edenberg, et al. | |
| 112-124 | Mutational Spectrum of d | Sacha Ferdinandusse, Mari S. Ylianttila, Jolein Gloerich, M. Kristian Koski, Wendy Oostheim, Hans R. Waterham, J. Kalervo Hiltunen, Ronald J.A. Wanders, Tuomo Glumoff |
| 125-129 | Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier | Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa, Benjamin B. Roa, David L. Nelson |
| 130-136 | Variants Associated with Common Disease Are Not Unusually Differentiated in Frequency across Populations | Kirk E. Lohmueller, Matthew M. Mauney, David Reich, John M. Braverman |
| 137-143 | Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness | Saima Riazuddin, Shaheen N. Khan, Zubair M. Ahmed, Manju Ghosh, Kyle Caution, Sabiha Nazli, Madhulika Kabra, Ahmad U. Zafar, Kevin Chen, Sadaf Naz, Anthony Antonellis, William J. Pavan, Eric D. Green, Edward R. Wilcox, Penelope L. Friedman, Robert J. Morell, Sheikh Riazuddin, Thomas B. Friedman |
| 144-152 | Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss | Hashem Shahin, Tom Walsh, Tama Sobe, Judeh Abu Sa’ed, Amal Abu Rayan, Eric D. Lynch, Ming K. Lee, Karen B. Avraham, Mary-Claire King, Moein Kanaan |
| 153-159 | Screening for Recently Selected Alleles by Analysis of Human Haplotype Similarity | Neil A. Hanchard, Kirk A. Rockett, Chris Spencer, Graham Coop, Margaret Pinder, Muminatou Jallow, Martin Kimber, Gil McVean, Richard Mott, Dominic P. Kwiatkowski |
| 160-166 | A Germline Mutation in BLOC1S3 | Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A.J. Eady, Ban Dawood, Carole McKeown, Richard C. Trembath, Jonathan Wilde, Steve P. Watson, Eamonn R. Maher |
| 167-170 | Transactivation Function of an 800-bp Evolutionarily Conserved Sequence at the SHOX | Maki Fukami, Fumiko Kato, Toshihiro Tajima, Susumu Yokoya, Tsutomu Ogata |
| 171-172 | A Genetic and Cultural Odyssey: The Life and Work of L. Luca Cavalli-Sforza | Steve Olson |
| 173 | Society News | Joann A. Boughman |
| 174 | Erratum | Niu et al. (January 2002 70:157–169) |
| 175-177 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 179-192 | SLC34A3 | Clemens Bergwitz, Nicole M. Roslin, Martin Tieder, J.C. Loredo-Osti, Murat Bastepe, Hilal Abu-Zahra, Danielle Frappier, Kelly Burkett, Thomas O. Carpenter, Donald Anderson, Michèle Garabédian, Isabelle Sermet, T. Mary Fujiwara, Kenneth Morgan, Harriet S. Tenenhouse, Harald Jüppner |
| 193-201 | Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 | Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, Yardena Tenenbaum-Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni-Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze'ev Hochberg, Tim M. Strom |
| 202-221 | Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists | Sanghamitra Sengupta, Lev A. Zhivotovsky, Roy King, S.Q. Mehdi, Christopher A. Edmonds, Cheryl-Emiliane T. Chow, Alice A. Lin, Mitashree Mitra, Samir K. Sil, A. Ramesh, M.V. Usha Rani, Chitra M. Thakur, L. Luca Cavalli-Sforza, Partha P. Majumder, Peter A. Underhill |
| 222-230 | A Novel Framework for Sib Pair Linkage Analysis | G. David Poznik, Katarzyna Adamska, Xin Xu, Andrzej S. Krolewski, John J. Rogus |
| 231-242 | Regression-Based Association Analysis with Clustered Haplotypes through Use of Genotypes | Jung-Ying Tzeng, Chih-Hao Wang, Jau-Tsuen Kao, Chuhsing Kate Hsiao |
| 243-252 | Using Linkage Genome Scans to Improve Power of Association in Genome Scans | Kathryn Roeder, Silvi-Alin Bacanu, Larry Wasserman, B. Devlin |
| 253-264 | The SERPINE2 | Dawn L. DeMeo, Thomas J. Mariani, Christoph Lange, Sorachai Srisuma, Augusto A. Litonjua, Juan C. Celedón, Stephen L. Lake, John J. Reilly, Harold A. Chapman, Brigham H. Mecham, Kathleen J. Haley, Jody S. Sylvia, David Sparrow, Avrum E. Spira, Jennifer Beane, Victor Pinto-Plata, Frank E. Speizer, Steven D. Shapiro, Scott T. Weiss, Edwin K. Silverman |
| 265-278 | ZNF674 | Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid R. Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean-Pierre Fryns, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gécz, Jeroen van Reeuwijk, Sander B. Nabuurs, Bert B.A. de Vries, Ben C.J. Hamel, Arjan P.M. de Brouwer, Hans van Bokhoven |
| 279-290 | Diversity and Functional Consequences of Germline and Somatic PTPN11 | Marco Tartaglia, Simone Martinelli, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Viviana Cordeddu, Giuseppe Zampino, Ineke van der Burgt, Antonio Palleschi, Tamara C. Petrucci, Mariella Sorcini, Claudia Schoch, Robin Foà, Peter D. Emanuel, Bruce D. Gelb |
| 291-302 | Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing | Michael Hiller, Klaus Huse, Karol Szafranski, Niels Jahn, Jochen Hampe, Stefan Schreiber, Rolf Backofen, Matthias Platzer |
| 303-314 | Spectrum of CHD7 | Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L.H. Davenport, John M. Graham Jr., Carlos A. Bacino, Nancy L. Glass, Jeffrey A. Towbin, William J. Craigen, Steven R. Neish, Angela E. Lin, John W. Belmont |
| 315-333 | Genomewide Linkage Scan of 409 European-Ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample | Brian K. Suarez, Jubao Duan, Alan R. Sanders, Anthony L. Hinrichs, Carol H. Jin, Cuiping Hou, Nancy G. Buccola, Nancy Hale, Ann N. Weilbaecher, Deborah A. Nertney, Ann Olincy, Susan Green, Arthur W. Schaffer, Christopher J. Smith, Dominique E. Hannah, John P. Rice, Nancy J. Cox, Maria Martinez, Bryan J. Mowry, Farooq Amin, et al. | |
| 334-338 | A Y-Chromosome Signature of Hegemony in Gaelic Ireland | Laoise T. Moore, Brian McEvoy, Eleanor Cape, Katharine Simms, Daniel G. Bradley |
| 339-344 | Mutations in the Translated Region of the Lactase Gene (LCT | Mikko Kuokkanen, Jorma Kokkonen, Nabil Sabri Enattah, Tero Ylisaukko-oja, Hanna Komu, Teppo Varilo, Leena Peltonen, Erkki Savilahti, Irma Järvelä |
| 345-349 | A Mutation in Para | Catarina Quinzii, Ali Naini, Leonardo Salviati, Eva Trevisson, Plácido Navas, Salvatore DiMauro, Michio Hirano |
| 350-356 | Robust Genomic Control for Association Studies | Gang Zheng, Boris Freidlin, Joseph L. Gastwirth |
| 357-359 | USH1A | Sylvie Gerber, Dominique Bonneau, Brigitte Gilbert, Arnold Munnich, Jean-Louis Dufier, Jean-Michel Rozet, Josseline Kaplan |
| 360 | Erratum | Zhang et al. (July 2003 73:1385–1401) |
| 360 | Erratum | Viskochil (October 2005 77:681) |
| 361-362 | Society News | Susanne B. Haga |
| 363-364 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 365-366 | Theodore T. Puck (September 24, 1916–November 6, 2005) | Janet D. Rowley |
| 367 | 2005 Cotterman Award Winners | |
| 368-372 | If Only We Spoke the Same Language—We Would Have So Much to Discuss | Peter H. Byers |
| 373 | Introductory Speech for Joseph D. McInerney | Peter H. Byers |
| 374-376 | Education for Health Professionals and the Public | Joseph D. McInerney |
| 377-392 | A Genomewide Search Finds Major Susceptibility Loci for Gallbladder Disease on Chromosome 1 in Mexican Americans | Sobha Puppala, Gerald D. Dodd, Sharon Fowler, Rector Arya, Jennifer Schneider, Vidya S. Farook, Richard Granato, Thomas D. Dyer, Laura Almasy, Christopher P. Jenkinson, Andrew K. Diehl, Michael P. Stern, John Blangero, Ravindranath Duggirala |
| 393-400 | An Ancient Balanced Polymorphism in a Regulatory Region of Human Major Histocompatibility Complex Is Retained in Chinese Minorities but Lost Worldwide | Xiaoyi Liu, Yonggui Fu, Zehuan Liu, Bin Lin, Yi Xie, Yin Liu, Yunpin Xu, Jianghai Lin, Xinlan Fan, Meiling Dong, Kai Zeng, Chung-I Wu, Anlong Xu |
| 401-409 | Mutations in ACY1, | Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo Engelke, Judit Horvath, Manfred Fliegauf, Niki Tomas Loges, Susanne Schweitzer-Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti-Furga, Ron A. Wevers, Heymut Omran |
| 410-422 | A Spectrum of PCSK9 | Ingrid K. Kotowski, Alexander Pertsemlidis, Amy Luke, Richard S. Cooper, Gloria L. Vega, Jonathan C. Cohen, Helen H. Hobbs |
| 423-436 | Deciphering the Ancient and Complex Evolutionary History of Human Arylamine N-Acetyltransferase Genes | Etienne Patin, Luis B. Barreiro, Pardis C. Sabeti, Frédéric Austerlitz, Francesca Luca, Antti Sajantila, Doron M. Behar, Ornella Semino, Anavaj Sakuntabhai, Nicole Guiso, Brigitte Gicquel, Ken McElreavey, Rosalind M. Harding, Evelyne Heyer, Lluís Quintana-Murci |
| 437-450 | A Comparison of Phasing Algorithms for Trios and Unrelated Individuals | Jonathan Marchini, David Cutler, Nick Patterson, Matthew Stephens, Eleazar Eskin, Eran Halperin, Shin Lin, Zhaohui S. Qin, Heather M. Munro, Gonçalo R. Abecasis, Peter Donnelly and for the International HapMap Consortium |
| 451-463 | Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene | Mariko Kudo, Michael S. Brem, William M. Canfield |
| 464-479 | Bladder Cancer Predisposition: A Multigenic Approach to DNA-Repair and Cell-Cycle–Control Genes | Xifeng Wu, Jian Gu, H. Barton Grossman, Christopher I. Amos, Carol Etzel, Maosheng Huang, Qing Zhang, Randal E. Millikan, Seth Lerner, Colin P. Dinney, Margaret R. Spitz |
| 480-486 | Mapping Genetic Loci That Determine Leukocyte Telomere Length in a Large Sample of Unselected Female Sibling Pairs | Toby Andrew, Abraham Aviv, Mario Falchi, Gabriela L. Surdulescu, Jeffrey P. Gardner, Xiaobin Lu, Masayuki Kimura, Bernet S. Kato, Ana M. Valdes, Tim D. Spector |
| 487-497 | The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event | Doron M. Behar, Ene Metspalu, Toomas Kivisild, Alessandro Achilli, Yarin Hadid, Shay Tzur, Luisa Pereira, Antonio Amorim, Lluís Quintana-Murci, Kari Majamaa, Corinna Herrnstadt, Neil Howell, Oleg Balanovsky, Ildus Kutuev, Andrey Pshenichnov, David Gurwitz, Batsheva Bonne-Tamir, AntonioTorroni, Richard Villems, Karl Skorecki |
| 498-504 | Improved Power Offered by a Score Test for Linkage Disequilibrium Mapping of Quantitative-Trait Loci by Selective Genotyping | Chris Wallace, Juliet M. Chapman, David G. Clayton |
| 505-509 | Evaluating Statistical Significance in Two-Stage Genomewide Association Studies | D.Y. Lin |
| 510-519 | Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease | Regina C. Betz, Laura Planko, Sibylle Eigelshoven, Sandra Hanneken, Sandra M. Pasternack, Heinrich Büssow, Kris Van Den Bogaert, Joerg Wenzel, Markus Braun-Falco, Arno Rütten, Michael A. Rogers, Thomas Ruzicka, Markus M. Nöthen, Thomas M. Magin, Roland Kruse |
| 520-522 | Identification of Frequent Chromosome Copy-Number Polymorphisms by Use of High-Resolution Single-Nucleotide–Polymorphism Arrays | Michael Wirtenberger, Kari Hemminki, Barbara Burwinkel |
| 523-525 | A Second Recombination Hotspot Associated with SHOX | Andrew R. Zinn, Purita Ramos, Judith L. Ross |
| 526 | Erratum | Slater et al. (November 2005 77:709–726) |
| 527-528 | Society News | Joann A. Boughman |
| 529-532 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 533-542 | Hemizygosity at the NCF1 | Miguel Del Campo, Anna Antonell, Luis F. Magano, Francisco J. Muñoz, Raquel Flores, Mònica Bayés, Luis A. Pérez Jurado |
| 543-553 | Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus | Belhassen Kaabi, Joel Gelernter, Scott W. Woods, Andrew Goddard, Grier P. Page, Robert C. Elston |
| 554-563 | New Complexities in the Genetics of Stuttering: Significant Sex-Specific Linkage Signals | Rathi Suresh, Nicoline Ambrose, Cheryl Roe, Anna Pluzhnikov, Jacqueline K. Wittke-Thompson, Maggie C.-Y. Ng, Xiaolin Wu, Edwin H. Cook, Cecilia Lundstrom, Marie Garsten, Ruth Ezrati, Ehud Yairi, Nancy J. Cox |
| 564-574 | Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees | Valerio Carelli, Alessandro Achilli, Maria Lucia Valentino, Chiara Rengo, Ornella Semino, Maria Pala, Anna Olivieri, Marina Mattiazzi, Francesco Pallotti, Franco Carrara, Massimo Zeviani, Vincenzo Leuzzi, Carla Carducci, Giorgio Valle, Barbara Simionati, Luana Mendieta, Solange Salomao, Rubens Belfort Jr., Alfredo A. Sadun, Antonio Torroni |
| 575-587 | A Murine Model for Human Sepiapterin-Reductase Deficiency | Seungkyoung Yang, Young Jae Lee, Jin-Man Kim, Sean Park, Joanna Peris, Philip Laipis, Young Shik Park, Jae Hoon Chung, S. Paul Oh |
| 588-603 | Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome | Itsik Pe’er, Yves R. Chretien, Paul I.W. de Bakker, Jeffrey C. Barrett, Mark J. Daly, David M. Altshuler |
| 604-614 | Hypomethylation of the H19 | Jet Bliek, Paulien Terhal, Marie-José van den Bogaard, Saskia Maas, Ben Hamel, Georgette Salieb-Beugelaar, Marleen Simon, Tom Letteboer, Jasper van der Smagt, Hester Kroes, Marcel Mannens |
| 615-628 | A Fine-Scale Linkage-Disequilibrium Measure Based on Length of Haplotype Sharing | Yan Wang, Lue Ping Zhao, Sandrine Dudoit |
| 629-644 | A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic Phase | Paul Scheet, Matthew Stephens |
| 645-658 | Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions | David F. Bishop, Annika Johansson, Robert Phelps, Amr A. Shady, Maria C.M. Ramirez, Makiko Yasuda, Andres Caro, Robert J. Desnick |
| 659-670 | Spread of an Inactive Form of Caspase-12 in Humans Is Due to Recent Positive Selection | Yali Xue, Allan Daly, Bryndis Yngvadottir, Mengning Liu, Graham Coop, Yuseob Kim, Pardis Sabeti, Yuan Chen, Jim Stalker, Elizabeth Huckle, John Burton, Steven Leonard, Jane Rogers, Chris Tyler-Smith |
| 671-679 | Recently Mobilized Transposons in the Human and Chimpanzee Genomes | Ryan E. Mills, E. Andrew Bennett, Rebecca C. Iskow, Christopher T. Luttig, Circe Tsui, W. Stephen Pittard, Scott E. Devine |
| 680-690 | Proportioning Whole-Genome Single-Nucleotide–Polymorphism Diversity for the Identification of Geographic Population Structure and Genetic Ancestry | Oscar Lao, Kate van Duijn, Paula Kersbergen, Peter de Knijff, Manfred Kayser |
| 691-701 | The NEMO | Anne Puel, Janine Reichenbach, Jacinta Bustamante, Cheng-Lung Ku, Jacqueline Feinberg, Rainer Döffinger, Marion Bonnet, Orchidée Filipe-Santos, Ludovic de Beaucoudrey, Anne Durandy, Gerd Horneff, Francesco Novelli, Volker Wahn, Asma Smahi, Alain Israel, Tim Niehues, Jean-Laurent Casanova |
| 702-707 | Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome | Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher |
| 708-712 | GDF5 | Katherine Dawson, Petra Seeman, Eiman Sebald, Lily King, Matthew Edwards, John Williams III, Stephan Mundlos, Deborah Krakow |
| 713-720 | The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups | David C. Samuels, Andrew D. Carothers, Robin Horton, Patrick F. Chinnery |
| 721-727 | A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 | Céline Eidenschenk, Jean Dunne, Emmanuelle Jouanguy, Claire Fourlinnie, Laure Gineau, Delphine Bacq, Corrina McMahon, Owen Smith, Jean-Laurent Casanova, Laurent Abel, Conleth Feighery |
| 728-729 | Impact of Haplotype-Frequency Estimation Error on Test Statistics in Association Studies | Jinying Zhao, Eric Boerwinkle, Momiao Xiong |
| 729-731 | Estimated Haplotype Counts from Case-Control Samples Cannot Be Treated as Observed Counts | David Curtis, Pak C. Sham |
| 730-731 | Reply to Wirtenberger et al. | Howard R. Slater, Dione K. Bailey, Hua Ren, Manqiu Cao, Katrina Bell, Steven Nasioulas, Robert Henke, K.H. Andy Choo, Giulia C. Kennedy |
| 732-733 | Erratum | |
| 733 | Erratum | |
| 734 | Society News | Kenna M. Shaw |
| 735-736 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 737-746 | Contrasting Linkage-Disequilibrium Patterns between Cases and Controls as a Novel Association-Mapping Method | Dmitri V. Zaykin, Zhaoling Meng, Margaret G. Ehm |
| 747-758 | Fine-Mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12 | Patrick M. Gaffney, Carl D. Langefeld, Robert R. Graham, Ward A. Ortmann, Adrienne H. Williams, Peter R. Rodine, Kathy L. Moser, Timothy W. Behrens |
| 759-769 | Genomewide Linkage Scan for Opioid Dependence and Related Traits | Joel Gelernter, Carolien Panhuysen, Marsha Wilcox, Victor Hesselbrock, Bruce Rounsaville, James Poling, Roger Weiss, Susan Sonne, Hongyu Zhao, Lindsay Farrer, Henry R. Kranzler |
| 770-777 | Polymorphism in Maternal LRP8 | Lin Wang, Xiaobin Wang, Nan Laird, Barry Zuckerman, Philip Stubblefield, Xin Xu |
| 778-792 | Efficient Study Designs for Test of Genetic Association Using Sibship Data and Unrelated Cases and Controls | Mingyao Li, Michael Boehnke, Gonçalo R. Abecasis |
| 793-803 | Cis | Sandra Mahr, Gerd-Rüdiger Burmester, Dietmar Hilke, Udo Göbel, Andreas Grützkau, Thomas Häupl, Matthias Hauschild, Dirk Koczan, Veit Krenn, Jasper Neidel, Carsten Perka, Andreas Radbruch, Hans-Jürgen Thiesen, Brigitte Müller |
| 804-814 | Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment | Francis J. McMahon, Silvia Buervenich, Dennis Charney, Robert Lipsky, A. John Rush, Alexander F. Wilson, Alexa J.M. Sorant, George J. Papanicolaou, Gonzalo Laje, Maurizio Fava, Madhukar H. Trivedi, Stephen R. Wisniewski, Husseini Manji |
| 815-826 | Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder | Xian-Zhang Hu, Robert H. Lipsky, Guanshan Zhu, Longina A. Akhtar, Julie Taubman, Benjamin D. Greenberg, Ke Xu, Paul D. Arnold, Margaret A. Richter, James L. Kennedy, Dennis L. Murphy, David Goldman |
| 827-851 | Sequence and Haplotype Analysis Supports HLA-C | Rajan P. Nair, Philip E. Stuart, Ioana Nistor, Ravi Hiremagalore, Nicholas V.C. Chia, Stefan Jenisch, Michael Weichenthal, Gonçalo R. Abecasis, Henry W. Lim, Enno Christophers, John J. Voorhees, James T. Elder |
| 852-864 | Cigarette Smoking Strongly Modifies the Association of LOC387715 | Silke Schmidt, Michael A. Hauser, William K. Scott, Eric A. Postel, Anita Agarwal, Paul Gallins, Frank Wong, Yu Sarah Chen, Kylee Spencer, Nathalie Schnetz-Boutaud, Jonathan L. Haines, Margaret A. Pericak-Vance |
| 865-870 | Imprinting at the SMPD1 | Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu, Nataly Shtraizent, Margaret M. McGovern, Edward H. Schuchman |
| 871-877 | Association of Polymorphisms in the Angiotensin-Converting Enzyme Gene with Alzheimer Disease in an Israeli Arab Community | Yan Meng, Clinton T. Baldwin, Abdalla Bowirrat, Kristin Waraska, Rivka Inzelberg, Robert P. Friedland, Lindsay A. Farrer |
| 878-883 | Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans | Mette Gilling, Jörn S. Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert, Thomas Meyer, Karen Brondum-Nielsen, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer, N. Simon Thomas |
| 884-888 | Coverage and Power in Genomewide Association Studies | Eric Jorgenson, John S. Witte |
| 889-896 | Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease | C. Geoffrey Woods, James Cox, Kelly Springell, Daniel J. Hampshire, Moin D. Mohamed, Martin McKibbin, Rowena Stern, F. Lucy Raymond, Richard Sandford, Saghira Malik Sharif, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton, Chris F. Inglehearn |
| 897 | Erratum | |
| 897 | Erratum | |
| 898-899 | Society News | Joann A. Boughman |
| 900-902 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 903-913 | Multilocus Association Mapping Using Variable-Length Markov Chains | Sharon R. Browning |
| 914-921 | Variance Calculations for Identity-by-Descent Estimation | Matthew B. McQueen, Deborah Blacker, Nan M. Laird |
| 922-935 | Online System for Faster Multipoint Linkage Analysis via Parallel Execution on Thousands of Personal Computers | M. Silberstein, A. Tzemach, N. Dovgolevsky, M. Fishelson, A. Schuster, D. Geiger |
| 936-946 | Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease | Jessie Theuns, Nathalie Brouwers, Sebastiaan Engelborghs, Kristel Sleegers, Veerle Bogaerts, Ellen Corsmit, Tim De Pooter, Cornelia M. van Duijn, Peter P. De Deyn, Christine Van Broeckhoven |
| 947-960 | A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia | Vincent Procaccio, Gloria Salazar, Shoichiro Ono, Melanie L. Styers, Marla Gearing, Antonio Davila, Richard Jimenez, Jorge Juncos, Claire-Anne Gutekunst, Germana Meroni, Bianca Fontanella, Estelle Sontag, Jean Marie Sontag, Victor Faundez, Bruce H. Wainer |
| 961-972 | Total-Genome Analysis of BRCA1/2 | Frank Weber, Lei Shen, Koichi Fukino, Attila Patocs, George L. Mutter, Trinidad Caldes, Charis Eng |
| 973-987 | Diplotype Trend Regression Analysis of the ADH | Xingguang Luo, Henry R. Kranzler, Lingjun Zuo, Shuang Wang, Nicholas J. Schork, Joel Gelernter |
| 988-998 | Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder | Robert Steinfeld, Konstanze Reinhardt, Kathrin Schreiber, Merle Hillebrand, Ralph Kraetzner, Wolfgang Brück, Paul Saftig, Jutta Gärtner |
| 999-1010 | The Origin of EFNB1 | Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, M. Teresa Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie |
| 1011-1025 | Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes | Lude Franke, Harm van Bakel, Like Fokkens, Edwin D. de Jong, Michael Egmont-Petersen, Cisca Wijmenga |
| 1026-1034 | Mutant POLG2 | Matthew J. Longley, Susanna Clark, Cynthia Yu Wai Man, Gavin Hudson, Steve E. Durham, Robert W. Taylor, Simon Nightingale, Douglass M. Turnbull, William C. Copeland, Patrick F. Chinnery |
| 1046-1052 | Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy | S. Ferdinandusse, P. Kostopoulos, S. Denis, H. Rusch, H. Overmars, U. Dillmann, W. Reith, D. Haas, R.J.A. Wanders, M. Duran, M. Marziniak |
| 1053-1059 | Haplotype Homozygosity and Derived Alleles in the Human Genome | Andrew E. Fry, Clare J. Trafford, Martin A. Kimber, Man-Suen Chan, Kirk A. Rockett, Dominic P. Kwiatkowski |
| 1060-1065 | Elevated Expression and Genetic Association Links the SOCS3 | E. Ekelund, A. Sääf, M. Tengvall-Linder, E. Melen, J. Link, J. Barker, N.J. Reynolds, S.J. Meggitt, J. Kere, C.-F. Wahlgren, G. Pershagen, M. Wickman, M. Nordenskjöld, I. Kockum, M. Bradley |
| 1066-1074 | Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A | Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa-Lyonnet |
| 1075-1080 | Fibulin-4 | Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urban |
| 1081-1082 | Considerations for Genomewide Association Studies in Parkinson Disease | Dr. Richard H. Myers |
| 1082-1083 | Conflicting Results Regarding the Semaphorin Gene (SEMA5A | Jordi Clarimon, Sonja Scholz, Hon-Chung Fung, John Hardy, Johanna Eerola, Olli Hellström, Chiung-Mei Chen, Yih-Ru Wu, Pentti J. Tienari, Andrew Singleton |
| 1084-1088 | Genomewide Association, Parkinson Disease, and PARK10 | Matthew J. Farrer, Kristoffer Haugarvoll, Owen A. Ross, Jeremy T. Stone, Nicole M. Milkovic, Stephanie A. Cobb, Andrew J. Whittle, Sarah J. Lincoln, Mary M. Hulihan, Michael G. Heckman, Linda R. White, Jan O. Aasly, J. Mark Gibson, David Gosal, Timothy Lynch, Zbigniew K. Wszolek, Ryan J. Uitti, Mathias Toft |
| 1088-1090 | No Evidence for Association with Parkinson Disease for 13 Single-Nucleotide Polymorphisms Identified by Whole-Genome Association Screening | A. Goris, C.H. Williams-Gray, T. Foltynie, D.A.S. Compston, R.A. Barker, S.J. Sawcer |
| 1090-1092 | A Case-Control Association Study of the 12 Single-Nucleotide Polymorphisms Implicated in Parkinson Disease by a Recent Genome Scan | Yonghong Li, Charles Rowland, Steven Schrodi, Walter Laird, Kristina Tacey, David Ross, Diane Leong, Joseph Catanese, John Sninsky, Andrew Grupe |
| 1092-1094 | Response from Maraganore et al. | Demetrius M. Maraganore, Mariza de Andrade, Timothy G. Lesnick, P. V. Krishna Pant, David R. Cox, Dennis G. Ballinger |
| 1094-1095 | A Note on Permutation Tests in Multistage Association Scans | Frank Dudbridge |
| 1096 | Reply to Dudbridge | D.Y. Lin |
| 1097 | Errata | |
| 1097-1098 | Errata | |
| 1099-1100 | Society News | Joann A. Boughman |
| 1101-1106 | Announcements | |
| 1035-1045 | Ordered Genotypes: An Extended ITO Method and a General Formula for Genetic Covariance | Feng Dai, Daniel E. Weeks |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1-12 | Reconstructing Genetic Ancestry Blocks in Admixed Individuals | Hua Tang, Marc Coram, Pei Wang, Xiaofeng Zhu, Neil Risch |
| 13-22 | Mapping Tumor-Suppressor Genes with Multipoint Statistics from Copy-Number–Variation Data | Iuliana Ionita, Raoul-Sam Daruwala, Bud Mishra |
| 23-30 | Distinct Expression Profiles for PTEN | Marta S. Sarquis, Shipra Agrawal, Lei Shen, Robert Pilarski, Xiao-Ping Zhou, Charis Eng |
| 31-40 | High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening | Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick |
| 41-53 | Human Genomic Deletions Mediated by Recombination between Alu | Shurjo K. Sen, Kyudong Han, Jianxin Wang, Jungnam Lee, Hui Wang, Pauline A. Callinan, Matthew Dyer, Richard Cordaux, Ping Liang, Mark A. Batzer |
| 54-61 | Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease | Richa Saxena, Paul I.W. de Bakker, Karyn Singer, Vamsi Mootha, Noël Burtt, Joel N. Hirschhorn, Daniel Gaudet, Bo Isomaa, Mark J. Daly, Leif Groop, Kristin G. Ardlie, David Altshuler |
| 62-66 | Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome | Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Génin, Annick Toutain, Elisabeth Steichen, Françoise Clerget-Darpoux and, Patrick Edery |
| 67-84 | Intra- and Interindividual Epigenetic Variation in Human Germ Cells | James M. Flanagan, Violeta Popendikyte, Natalija Pozdniakovaite, Martha Sobolev, Abbas Assadzadeh, Axel Schumacher, Masood Zangeneh, Lynette Lau, Carl Virtanen, Sun-Chong Wang, Arturas Petronis |
| 85-99 | Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine | V. Anttila, M. Kallela, G. Oswell, M.A. Kaunisto, D.R. Nyholt, E. Hämäläinen, H. Havanka, M. Ilmavirta, J. Terwilliger, E. Sobel, L. Peltonen, J. Kaprio, M. Färkkilä, M. Wessman, A. Palotie |
| 100-112 | Bayesian Graphical Models for Genomewide Association Studies | Claudio J. Verzilli, Nigel Stallard, John C. Whittaker |
| 113-119 | Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure | Arnaud Lacombe, Hane Lee, Laila Zahed, Mahmoud Choucair, Jean-Marc Muller, Stanley F. Nelson, Wael Salameh, Eric Vilain |
| 120-128 | Genetic Variation in the CCL18-CCL3-CCL4 | William S. Modi, James Lautenberger, Ping An, Kevin Scott, James J. Goedert, Gregory D. Kirk, Susan Buchbinder, John Phair, Sharyne Donfield, Stephen J. O’Brien, Cheryl Winkler |
| 129-135 | Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype | Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia |
| 136-142 | DSG2 | Mark M. Awad, Darshan Dalal, Eunpi Cho, Nuria Amat-Alarcon, Cynthia James, Crystal Tichnell, April Tucker, Stuart D. Russell, David A. Bluemke, Harry C. Dietz, Hugh Calkins, Daniel P. Judge |
| 143-148 | Double Inactivation of NF1 | David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine M. Messiaen, John C. Carey, Jacques L. D’Astous, Stephen D. Santora, David H. Viskochil |
| 149-154 | ELMOD2 | Ulla Hodgson, Ville Pulkkinen, Morag Dixon, Myriam Peyrard-Janvid, Marko Rehn, Päivi Lahermo, Vesa Ollikainen, Kaisa Salmenkivi, Vuokko Kinnula, Juha Kere, Pentti Tukiainen, Tarja Laitinen |
| 155-162 | Increased DNA Methylation at the AXIN1 | N.A. Oates, J. van Vliet, D.L. Duffy, H.Y. Kroes, N.G. Martin, D.I. Boomsma, M. Campbell, M.G. Coulthard, E. Whitelaw, S. Chong |
| 163-168 | Familial Osteoarthritis of the Hip Joint Associated with Acetabular Dysplasia Maps to Chromosome 13q | Akihiko Mabuchi, Shigeru Nakamura, Yoshio Takatori, Shiro Ikegawa |
| 169-173 | NOTCH2 | Ryan McDaniell, Daniel M. Warthen, Pedro A. Sanchez-Lara, Athma Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner |
| 174-179 | Expression of GJB2 | Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici |
| 180-183 | Single-Nucleotide Polymorphism rs498055 | Lars Bertram, Monica Hsiao, Christoph Lange, Deborah Blacker, Rudolph E. Tanzi |
| 183-184 | Reply to Bertram et al. | Andrew Grupe, Yonghong Li, Charles Rowland, Tony Hinrichs, Peter Holmans, John Hardy, Michael O’Donovan, Michael J. Owen, Julie Williams, Alison Goate |
| 184-186 | The SERPINE2 | Sally Chappell, Leslie Daly, Kevin Morgan, Tamar Guetta Baranes, Josep Roca, Roberto Rabinovich, Ann Millar, Seamas C. Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S. Hiemstra, Massimo Miniati, Simonetta Monti, Clare M. O’Connor, Noor Kalsheker |
| 186-187 | Reply to Chappell et al. | Dawn L. DeMeo, Edwin K. Silverman |
| 188 | The Advocates Training Partnership Program | Joann A. Boughman |
| 189-191 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 193 | Introduction | Arno G. Motulsky |
| 194-196 | To Reveal the Genomes | Robert L. Sinsheimer |
| 197-213 | The Alexander Disease–Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of αB-Crystallin and HSP27 | Ming Der Perng, Mu Su, Shu Fang Wen, Rong Li, Terry Gibbon, Alan R. Prescott, Michael Brenner, Roy A. Quinlan |
| 214-229 | Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites | Marianne Paulsen, Connie Lund, Zarqa Akram, Jakob R. Winther, Nina Horn, Lisbeth Birk Møller |
| 230-237 | A Geographically Explicit Genetic Model of Worldwide Human-Settlement History | Hua Liu, Franck Prugnolle, Andrea Manica, François Balloux |
| 238-251 | Accommodating Chromosome Inversions in Linkage Analysis | Gary K. Chen, Erin Slaten, Roel A. Ophoff, Kenneth Lange |
| 252-263 | Genomewide Association Analysis of Human Narcolepsy and a New Resistance Gene | Minae Kawashima, Gen Tamiya, Akira Oka, Hirohiko Hohjoh, Takeo Juji, Takashi Ebisawa, Yutaka Honda, Hidetoshi Inoko, Katsushi Tokunaga |
| 264-274 | Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells | Qing Cheng, Cheng Cheng, Kristine R. Crews, Raul C. Ribeiro, Ching-Hon Pui, Mary V. Relling, William E. Evans |
| 275-290 | Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome | Devin P. Locke, Andrew J. Sharp, Steven A. McCarroll, Sean D. McGrath, Tera L. Newman, Ze Cheng, Stuart Schwartz, Donna G. Albertson, Daniel Pinkel, David M. Altshuler, Evan E. Eichler |
| 291-302 | Mutation in TRMU | Min-Xin Guan, Qingfeng Yan, Xiaoming Li, Yelena Bykhovskaya, Jaime Gallo-Teran, Petr Hajek, Noriko Umeda, Hui Zhao, Gema Garrido, Emebet Mengesha, Tsutomu Suzuki, Ignacio del Castillo, Jennifer Lynne Peters, Ronghua Li, Yaping Qian, Xinjian Wang, Ester Ballana, Mordechai Shohat, Jianxin Lu, Xavier Estivill, et al. | |
| 303-312 | Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit | Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos |
| 313-322 | A Coalescence-Guided Hierarchical Bayesian Method for Haplotype Inference | Yu Zhang, Tianhua Niu, Jun S. Liu |
| 323-331 | Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension | Chris Wallace, Ming-Zhan Xue, Stephen J. Newhouse, Ana Carolina B. Marçano, Abiodun K. Onipinla, Beverley Burke, Johannie Gungadoo, Richard J. Dobson, Morris Brown, John M. Connell, Anna Dominiczak, G. Mark Lathrop, John Webster, Martin Farrall, Charles Mein, Nilesh J. Samani, Mark J. Caulfield, David G. Clayton, Patricia B. Munroe |
| 332-341 | Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes | Giuseppe Merla, Cédric Howald, Charlotte N. Henrichsen, Robert Lyle, Carine Wyss, Marie-Thérèse Zabot, Stylianos E. Antonarakis, Alexandre Reymond |
| 342-350 | Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear | Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casari |
| 351-357 | ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia | Ashraf U. Mannan, Philip Krawen, Simone M. Sauter, Johann Boehm, Agnieszka Chronowska, Walter Paulus, Juergen Neesen, Wolfgang Engel |
| 358-364 | Homozygous Nonsense Mutation in the FOXE3 | Sophie Valleix, Florence Niel, Brigitte Nedelec, Marie-Paule Algros, Claire Schwartz, Bernard Delbosc, Marc Delpech, Bernadette Kantelip |
| 365-369 | Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31 | Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, Margaret A. Pericak-Vance |
| 370-377 | Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 | Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven |
| 378-382 | Linkage of Monogenic Infantile Hypertrophic Pyloric Stenosis to Chromosome 16p12-p13 and Evidence for Genetic Heterogeneity | Francesca Capon, Ashley Reece, Rathi Ravindrarajah, Eddie Chung |
| 383-389 | Sequencing of the Reannotated LMNB2 | Robert A. Hegele, Henian Cao, Dora M. Liu, Gary A. Costain, Valentine Charlton-Menys, N. Wilson Rodger, Paul N. Durrington |
| 390-395 | Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG | Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher |
| 396-401 | The Affected-/Discordant-Sib-Pair Design Can Guarantee Validity of Multipoint Model-Free Linkage Analysis of Incomplete Pedigrees When There Is Marker-Marker Disequilibrium | Chao Xing, Ritwik Sinha, Guan Xing, Qing Lu, Robert C. Elston |
| 402-408 | Mutations in WNT7A | C.G. Woods, S. Stricker, P. Seemann, R. Stern, J. Cox, E. Sherridan, E. Roberts, K. Springell, S. Scott, G. Karbani, S.M. Sharif, C. Toomes, J. Bond, D. Kumar, L. Al-Gazali, S. Mundlos |
| 409-414 | Characterization of SHOX | Sara Benito-Sanz, Darya Gorbenko del Blanco, Céline Huber, N. Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Ángel Campos-Barros, Karen E. Heath |
| 414 | Reply to Benito-Sanz et al. | Andrew R. Zinn, Purita Ramos, Judith L. Ross |
| 415 | ASHG Honors Its Own | Joann A. Boughman |
| 416-417 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 419-420 | Introductory Speech for Francis S. Collins | Leon E. Rosenberg |
| 421-426 | No Longer Just Looking under the Lamppost | Francis S. Collins |
| 427-428 | Introductory Speech for Patrick O. Brown | Evan Eichler |
| 429-433 | Exploring along a Crooked Path | Patrick O. Brown |
| 434-438 | Medical Genetics in the Genomic Medicine of the 21st Century | Charles J. Epstein |
| 439-448 | A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon | Klaus Fellermann, Daniel E. Stange, Elke Schaeffeler, Hartmut Schmalzl, Jan Wehkamp, Charles L. Bevins, Walter Reinisch, Alexander Teml, Matthias Schwab, Peter Lichter, Bernhard Radlwimmer, Eduard F. Stange |
| 449-457 | A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 | Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert, Jenneke van den Ende, Hisakumi Fukuoka, Michio Wagatsuma, Hiroaki Suzuki, R.M. Erica Smets, Filip Vanhoenacker, Frank Declau, Paul Van De Heyning, Shin-ichi Usami |
| 458-468 | The Value of Molecular Haplotypes in a Family-Based Linkage Study | E.M. Gillanders, J.V. Pearson, A.J.M. Sorant, J.M. Trent, J.R. O’Connell, J.E. Bailey-Wilson |
| 469-480 | Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers | Entela Bua, Jody Johnson, Allen Herbst, Bridget Delong, Debbie McKenzie, Shahriar Salamat, Judd M. Aiken |
| 493-499 | X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females | James M. Amos-Landgraf, Amy Cottle, Robert M. Plenge, Mike Friez, Charles E. Schwartz, John Longshore, Huntington F. Willard |
| 500-513 | Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation | J.M. Friedman, Ágnes Baross, Allen D. Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Dione K. Bailey, Sarah Barber, Patricia Birch, Mabel Brown-John, Manqiu Cao, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stephane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Steven J.M. Jones, et al. | |
| 514-523 | Molecular Characterization of Loss-of-Function Mutations in PCSK9 | Zhenze Zhao, Yetsa Tuakli-Wosornu, Thomas A. Lagace, Lisa Kinch, Nicholas V. Grishin, Jay D. Horton, Jonathan C. Cohen, Helen H. Hobbs |
| 524-538 | Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22) | Terry Ashley, Ann P. Gaeth, Hidehito Inagaki, Allen Seftel, Maimon M. Cohen, Lorinda K. Anderson, Hiroki Kurahashi, Beverly S. Emanuel |
| 539-543 | An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance | M.D. Teare, J. Heighway, M.F. Santibáñez Koref |
| 544-548 | Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 | Charalampos L. Karadimas, Tuan H. Vu, Stephen A. Holve, Penelope Chronopoulou, Catarina Quinzii, Stanley D. Johnsen, Janice Kurth, Elizabeth Eggers, Lluis Palenzuela, Kurenai Tanji, Eduardo Bonilla, Darryl C. De Vivo, Salvatore DiMauro, Michio Hirano |
| 549-555 | UBE2A, | Rafaella M.P. Nascimento, Paulo A. Otto, Arjan P.M. de Brouwer, Angela M. Vianna-Morgante |
| 556-561 | Mutations in the CEP290 | Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L. Arends, Krysta E.J. Voesenek, Marijke N. Zonneveld, Tim M. Strom, Thomas Meitinger, Han G. Brunner, Carel B. Hoyng, L. Ingeborgh van den Born, Klaus Rohrschneider, Frans P.M. Cremers |
| 562-566 | Peters Plus Syndrome Is Caused by Mutations in B3GALTL, | Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, Margot E. Kalf, Karoly Szuhai, Johan T. den Dunnen, Martijn H. Breuning, Raoul C.M. Hennekam |
| 574-579 | Mutations in the Gene KCNV2 | Huimin Wu, Jill A. Cowing, Michel Michaelides, Susan E. Wilkie, Glen Jeffery, Sharon A. Jenkins, Viktoria Mester, Alan C. Bird, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, David M. Hunt, Andrew R. Webster |
| 580-585 | Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34 | Uppala Radhakrishna, Uppala Ratnamala, Mathew Gaines, Soraya Beiraghi, David Hutchings, Jeffrey Golla, Syed A. Husain, Prakash S. Gambhir, Jayesh J. Sheth, Frenny J. Sheth, Ghati K. Chetan, Mohammed Naveed, Jitendra V. Solanki, Uday C. Patel, Dilipkumar C. Master, Rafiq Memon, Gregory S. Antonarakis, Stylianos E. Antonarakis, Swapan K. Nath |
| 586-592 | Schizophrenia and Oxidative Stress: Glutamate Cysteine Ligase Modifier as a Susceptibility Gene | Mirjana Tosic, Jurg Ott, Sandra Barral, Pierre Bovet, Patricia Deppen, Fulvia Gheorghita, Marie-Louise Matthey, Josef Parnas, Martin Preisig, Michael Saraga, Alessandra Solida, Sally Timm, August G. Wang, Thomas Werge, Michel Cuénod, Kim Quang Do |
| 593-596 | Deletion of PTEN | Leonardo Salviati, Mariagrazia Patricelli, Graziella Guariso, Giacomo Carlo Sturniolo, Rita Alaggio, Franca Bernardi, Orsetta Zuffardi, Romano Tenconi |
| 596-597 | Reply to Salviati et al. | Damien Sanlaville, Capucine Delnatte, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa-Lyonnet |
| 598-599 | The Annual Meeting: From Conception to Birth | Joann A. Boughman |
| 600-602 | Announcements | |
| 481-492 | A Fast Method for Computing High-Significance Disease Association in Large Population-Based Studies | Gad Kimmel, Ron Shamir |
| 567-573 | Monte Carlo Pedigree Disequilibrium Test for Markers on the X Chromosome | Jie Ding, Shili Lin, Yang Liu |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 603-605 | Origins of the Human Genome Project: Why Sequence the Human Genome When 96% of It Is Junk? | Paul Berg |
| 606-613 | Reduction of Sample Heterogeneity through Use of Population Substructure: An Example from a Population of African American Families with Sarcoidosis | Cheryl L. Thompson, Benjamin A. Rybicki, Michael C. Iannuzzi, Robert C. Elston, Sudha K. Iyengar, Courtney Gray-McGuire and Sarcoidosis Genetic Analysis Consortium (SAGA) |
| 614-627 | Genetic Mapping at 3-Kilobase Resolution Reveals Inositol 1,4,5-Triphosphate Receptor 3 as a Risk Factor for Type 1 Diabetes in Sweden | Jared C. Roach, Kerry Deutsch, Sarah Li, Andrew F. Siegel, Lynn M. Bekris, Derek C. Einhaus, Colleen M. Sheridan, Gustavo Glusman, Leroy Hood, Åke Lernmark, Marta Janer and Swedish Childhood Diabetes Study Group and the Diabetes Incidence in Sweden Study Group |
| 628-639 | A New Method for Detecting Human Recombination Hotspots and Its Applications to the HapMap ENCODE Data | Jun Li, Michael Q. Zhang, Xuegong Zhang |
| 640-649 | A Genomewide Single-Nucleotide–Polymorphism Panel with High Ancestry Information for African American Admixture Mapping | Chao Tian, David A. Hinds, Russell Shigeta, Rick Kittles, Dennis G. Ballinger, Michael F. Seldin |
| 650-656 | Mutations in SLC34A2 | Ayse Corut, Abdurrahman Senyigit, Sibel Aylin Ugur, Sedat Altin, Ugur Ozcelik, Haluk Calisir, Zeki Yildirim, Ayhan Gocmen, Aslihan Tolun |
| 657-667 | Mutations in CABP4, | Christina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, Susanne Kohl, István Magyar, Bernd Wissinger, Gábor Mátyás, François-Xavier Borruat, Daniel F. Schorderet, Eberhart Zrenner, Francis L. Munier, Wolfgang Berger |
| 668-678 | Satb2 | Olga Britanova, Michael J. Depew, Manuela Schwark, Bethan L. Thomas, Isabelle Miletich, Paul Sharpe, Victor Tarabykin |
| 695-701 | Genomewide Linkage Screen for Waldenström Macroglobulinemia Susceptibility Loci in High-Risk Families | Mary L. McMaster, Lynn R. Goldin, Yan Bai, Monica Ter-Minassian, Stefan Boehringer, Therese R. Giambarresi, Linda G. Vasquez, Margaret A. Tucker |
| 702-709 | CRYBA4, | Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D. Paterson, Koji Ogata, Shoshana Wodak, S. Mohsen Hosseini, Shyam Manohar Manisastry, Perumalsamy Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Graw, Elise Héon |
| 710-715 | HLA-B Maternal-Fetal Genotype Matching Increases Risk of Schizophrenia | Christina G.S. Palmer, Hsin-Ju Hsieh, Elaine F. Reed, Jouko Lonnqvist, Leena Peltonen, J. Arthur Woodward, Janet S. Sinsheimer |
| 716-723 | Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate | Irene Pichler, Fabio Marroni, Claudia Beu Volpato, James F. Gusella, Christine Klein, Giorgio Casari, Alessandro De Grandi, Peter P. Pramstaller |
| 724-730 | Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14 | Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, Kristen Holland, Susan Huson, Dan Geiger, Hans Christian Hennies, Margarita Indelman, Dani Bercovich, Jouni Uitto, Reuven Bergman, John A. McGrath, Gabriele Richard, Eli Sprecher |
| 731-737 | Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p | Min Ae Lee-Kirsch, Maolian Gong, Herbert Schulz, Franz Rüschendorf, Annette Stein, Christiane Pfeiffer, Annalisa Ballarini, Manfred Gahr, Norbert Hubner, Maja Linné |
| 738-744 | Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C) | Xiaolian Fan, Huiwen Zhang, Sunqu Zhang, Richard D. Bagshaw, Michael B. Tropak, John W. Callahan, Don J. Mahuran |
| 745-751 | A Genomewide Search Finds Major Susceptibility Loci for Nicotine Dependence on Chromosome 10 in African Americans | Ming D. Li, Thomas J. Payne, Jennie Z. Ma, Xiang-Yang Lou, Dong Zhang, Randolph T. Dupont, Karen M. Crews, Grant Somes, Nancy J. Williams, Robert C. Elston |
| 752-758 | LRRK2 | Cyrus P. Zabetian, Carolyn M. Hutter, Dora Yearout, Alexis N. Lopez, Stewart A. Factor, Alida Griffith, Berta C. Leis, Thomas D. Bird, John G. Nutt, Donald S. Higgins, John W. Roberts, Denise M. Kay, Karen L. Edwards, Ali Samii, Haydeh Payami |
| 759-764 | A Deleterious Mutation in SAMD9 | Orit Topaz, Margarita Indelman, Ilana Chefetz, Dan Geiger, Aryeh Metzker, Yoram Altschuler, Mordechai Choder, Dani Bercovich, Jouni Uitto, Reuven Bergman, Gabriele Richard, Eli Sprecher |
| 765-766 | Parent-of-Origin Effect and Risk for Attention-Deficit/Hyperactivity Disorder: Balancing the Evidence against Bias and Chance Findings | Ridha Joober, Sarojini Sengupta |
| 766-768 | Reply to Joober and Sengupta | Ricardo Segurado, Ziarih Hawi, Michael Gill |
| 768-771 | Colorectal Cancer Risk in Monoallelic Carriers of MYH | Emily L. Webb, Mathew F. Rudd, Richard S. Houlston |
| 771 | Reply to Webb et al. | Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop |
| 773 | ASHG Takes Steps to Impact Undergraduate Genetics Education | Kenna R. Mills Shaw |
| 774-777 | Announcements | |
| 679-694 | A Flexible Bayesian Framework for Modeling Haplotype Association with Disease, Allowing for Dominance Effects of the Underlying Causative Variants | Andrew P. Morris |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 779-791 | Nucleotide-Resolution Mapping of Topoisomerase-Mediated and Apoptotic DNA Strand Scissions at or near an MLL | Marc-Edouard Mirault, Patrick Boucher, Alain Tremblay |
| 792-806 | Generalized Genomic Distance–Based Regression Methodology for Multilocus Association Analysis | Jennifer Wessel, Nicholas J. Schork |
| 807-819 | Mutations in TMEM76 | Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, Jiří Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare E. Beesley, Irène Maire, et al. | |
| 820-830 | Molecular Population Genetics of the Gene Encoding the Human Fertilization Protein Zonadhesin Reveals Rapid Adaptive Evolution | Joe Gasper, Willie J. Swanson |
| 831-845 | Test for Interaction between Two Unlinked Loci | Jinying Zhao, Li Jin, Momiao Xiong |
| 846-858 | Multipoint Linkage Analysis with Many Multiallelic or Dense Diallelic Markers: Markov Chain–Monte Carlo Provides Practical Approaches for Genome Scans on General Pedigrees | Ellen M. Wijsman, Joseph H. Rothstein, Elizabeth A. Thompson |
| 859-868 | Epigenetic Allele Silencing Unveils Recessive RYR1 | Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier, Caroline A. Sewry, Gudrun E. Moore, Francesco Muntoni |
| 869-877 | Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs | Jan A.M. Smeitink, Orly Elpeleg, Hana Antonicka, Heleen Diepstra, Ann Saada, Paulien Smits, Florin Sasarman, Gert Vriend, Jasmine Jacob-Hirsch, Avraham Shaag, Gideon Rechavi, Brigitte Welling, Jürgen Horst, Richard J. Rodenburg, Bert van den Heuvel, Eric A. Shoubridge |
| 878-889 | Mutations of the Mitochondrial Holocytochrome c | Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth, Peter Meinecke, Israela Lerer, Andrea Ballabio, Andreas Gal, Brunella Franco, Kerstin Kutsche |
| 890-902 | A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination | Sarah J. Lindsay, Mehrdad Khajavi, James R. Lupski, Matthew E. Hurles |
| 903-909 | Analysis of High-Resolution HapMap of DTNBP1 | Mousumi Mutsuddi, Derek W. Morris, Skye G. Waggoner, Mark J. Daly, Edward M. Scolnick, Pamela Sklar |
| 910-922 | Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs | Mark J. Minichiello, Richard Durbin |
| 923-934 | Mutation-Positive and Mutation-Negative Patients with Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated with Distinct 10q Haplotypes | Marcus G. Pezzolesi, Yan Li, Xiao-Ping Zhou, Robert Pilarski, Lei Shen, Charis Eng |
| 935-941 | A Novel Mutation in FGFR3 | Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad |
| 942-948 | PLA2G6 | Shareef Khateeb, Hagit Flusser, Rivka Ofir, Ilan Shelef, Ginat Narkis, Gideon Vardi, Zamir Shorer, Rachel Levy, Aharon Galil, Khalil Elbedour, Ohad S. Birk |
| 949-957 | Mutations in the Tight-Junction Gene Claudin 19 (CLDN19 | Martin Konrad, André Schaller, Dominik Seelow, Amit V. Pandey, Siegfried Waldegger, Annegret Lesslauer, Helga Vitzthum, Yoshiro Suzuki, John M. Luk, Christian Becker, Karl P. Schlingmann, Marcel Schmid, Juan Rodriguez-Soriano, Gema Ariceta, Francisco Cano, Ricardo Enriquez, Harald Jüppner, Sevcan A. Bakkaloglu, Matthias A. Hediger, Sabina Gallati, et al. | |
| 958-964 | Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching | David H. Spencer, Kerry L. Bubb, Maynard V. Olson |
| 965-972 | Absence of a Paternally Inherited FOXP2 | Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Roberts, Lili Senman, Anne Summers, Peter Szatmari, Virginia Wong, John B. Vincent, Susan Zeesman, Lucy R. Osborne, Janis Oram Cardy, et al. | |
| 973-977 | Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 | Katharina Agnes Wycisk, Christina Zeitz, Silke Feil, Mariana Wittmer, Ursula Forster, John Neidhardt, Bernd Wissinger, Eberhart Zrenner, Robert Wilke, Susanne Kohl, Wolfgang Berger |
| 978-984 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2 | Petros Syrris, Deirdre Ward, Alison Evans, Angeliki Asimaki, Estelle Gandjbakhch, Srijita Sen-Chowdhry, William J. McKenna |
| 985 | Erratum | |
| 986 | What is FASEB, Anyway | Joann A. Boughman |
| 987-990 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 991-1001 | A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics Analyses | Michael N. Weedon, Vanessa J. Clark, Yudong Qian, Yoav Ben-Shlomo, Nicholas Timpson, Shah Ebrahim, Debbie A. Lawlor, Marcus E. Pembrey, Susan Ring, Terry J. Wilkin, Linda D. Voss, Alison N. Jeffery, Brad Metcalf, Luigi Ferrucci, Anna Maria Corsi, Anna Murray, David Melzer, Bridget Knight, Bev Shields, George Davey Smith, et al. | |
| 1002-1016 | Powerful Multilocus Tests of Genetic Association in the Presence of Gene-Gene and Gene-Environment Interactions | Nilanjan Chatterjee, Zeynep Kalaylioglu, Roxana Moslehi, Ulrike Peters, Sholom Wacholder |
| 1017-1029 | Biochemical and Genetic Analysis of ANK | Kyle A. Gurley, Richard J. Reimer, David M. Kingsley |
| 1030-1039 | Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure | Duanxiang Li, Sharie B. Parks, Jessica D. Kushner, Deirdre Nauman, Donna Burgess, Susan Ludwigsen, Julie Partain, Randal R. Nixon, Charles N. Allen, Robert P. Irwin, Petra M. Jakobs, Michael Litt, Ray E. Hershberger |
| 1040-1051 | Tricellulin Is a Tight-Junction Protein Necessary for Hearing | Saima Riazuddin, Zubair M. Ahmed, Alan S. Fanning, Ayala Lagziel, Shin-ichiro Kitajiri, Khushnooda Ramzan, Shaheen N. Khan, Parna Chattaraj, Penelope L. Friedman, James M. Anderson, Inna A. Belyantseva, Andrew Forge, Sheikh Riazuddin, Thomas B. Friedman |
| 1052-1058 | HLA and Genomewide Allele Sharing in Dizygotic Twins | Grant W. Montgomery, Gu Zhu, Jouke Jan Hottenga, David L. Duffy, Andrew C. Heath, Dorret I. Boomsma, Nicholas G. Martin, Peter M. Visscher |
| 1059-1070 | Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration | James S. Friedman, Bo Chang, Chitra Kannabiran, Christina Chakarova, Hardeep P. Singh, Subhadra Jalali, Norman L. Hawes, Kari Branham, Mohammad Othman, Elena Filippova, Debra A. Thompson, Andrew R. Webster, Sten Andréasson, Samuel G. Jacobson, Shomi S. Bhattacharya, John R. Heckenlively, Anand Swaroop |
| 1071-1080 | Exact Tests of Hardy-Weinberg Equilibrium and Homogeneity of Disequilibrium across Strata | Daniel J. Schaid, Anthony J. Batzler, Gregory D. Jenkins, Michelle A.T. Hildebrandt |
| 1081-1088 | Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy | Arnd Heuser, Eva R. Plovie, Patrick T. Ellinor, Katja S. Grossmann, Jordan T. Shin, Thomas Wichter, Craig T. Basson, Bruce B. Lerman, Sabine Sasse-Klaassen, Ludwig Thierfelder, Calum A. MacRae, Brenda Gerull |
| 1089-1097 | Human Adaptive Evolution at Myostatin | Matthew A. Saunders, Jeffrey M. Good, Elizabeth C. Lawrence, Robert E. Ferrell, Wen-Hsiung Li, Michael W. Nachman |
| 1098-1104 | Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III | Sven Cichon, Ludovic Martin, Hans Christian Hennies, Felicitas Müller, Karen Van Driessche, Anna Karpushova, Wim Stevens, Roberto Colombo, Thomas Renné, Christian Drouet, Konrad Bork, Markus M. Nöthen |
| 1105-1109 | Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia | C. Bergmann, J. Senderek, D. Anhuf, C.T. Thiel, A.B. Ekici, P. Poblete-Gutiérrez, M. van Steensel, D. Seelow, G. Nürnberg, H.H. Schild, P. Nürnberg, A. Reis, J. Frank, K. Zerres |
| 1110-1118 | Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia | Hanna T. Gazda, Agnieszka Grabowska, Lilia B. Merida-Long, Elzbieta Latawiec, Hal E. Schneider, Jeffrey M. Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E. Ball, Karen A. Orfali, Edyta Niewiadomska, Lydie Da Costa, Gil Tchernia, Charlotte Niemeyer, Joerg J. Meerpohl, Joachim Stahl, Gerhard Schratt, Bertil Glader, Karen Backer, Carolyn Wong, et al. | |
| 1119-1124 | Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, | Patrick S. Tarpey, Claire Stevens, Jon Teague, Sarah Edkins, Sarah O’Meara, Tim Avis, Syd Barthorpe, Gemma Buck, Adam Butler, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, et al. | |
| 1125-1129 | Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 | Luis Carlos López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J.T. Rodenburg, Ali Naini, Salvatore DiMauro, Michio Hirano |
| 1130-1134 | Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci | Luigi Bisceglia, Giuseppina Cerullo, Paola Forabosco, Diletta Domenica Torres, Francesco Scolari, Michele Di Perna, Marina Foramitti, Antonio Amoroso, Sara Bertok, Jürgen Floege, Peter Rene Mertens, Klaus Zerres, Efstathios Alexopoulos, Dimitrios Kirmizis, Mazzucco Ermelinda, Leopoldo Zelante, Francesco Paolo Schena and European IgAN Consortium |
| 1135 | Erratum | |
| 1136-1137 | ASHG Code of Ethics | Joann A. Boughman |
| 1138-1143 | Editorial Reviewers for 2006 | |
| 1144-1146 | Announcements | |
| 1147-1160 | Contents of Volume 79 | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1-11 | Identification of a Novel BBS Gene (BBS12 | Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy J.L. de Ravel, Richard Alan Lewis, Evelyne Friederich, Christelle Thibault, Jean-Marc Danse, Alain Verloes, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, et al. | |
| 12-18 | Functional Variants in the Promoter Region of Chitinase 3–Like 1 | Xinzhi Zhao, Ruqi Tang, Bo Gao, Yongyong Shi, Jian Zhou, Shengzhen Guo, Jing Zhang, Yabing Wang, Wei Tang, Junwei Meng, Sheng Li, Hongsheng Wang, Gang Ma, Chuwen Lin, Yue Xiao, Guoyin Feng, Zhiguang Lin, Shaomin Zhu, Yangling Xing, Hong Sang, et al. | |
| 19-28 | Genome Scanning by Composite Likelihood | Newton Morton, Nikolas Maniatis, Weihua Zhang, Sarah Ennis, Andrew Collins |
| 29-43 | A Mitochondrial Stratigraphy for Island Southeast Asia | Catherine Hill, Pedro Soares, Maru Mormina, Vincent Macaulay, Dougie Clarke, Petya B. Blumbach, Matthieu Vizuete-Forster, Peter Forster, David Bulbeck, Stephen Oppenheimer, Martin Richards |
| 44-58 | Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu | Lucia Valente, Valeria Tiranti, René Massimiliano Marsano, Edoardo Malfatti, Erika Fernandez-Vizarra, Claudia Donnini, Paolo Mereghetti, Luca De Gioia, Alberto Burlina, Claudio Castellan, Giacomo P. Comi, Salvatore Savasta, Iliana Ferrero, Massimo Zeviani |
| 59-68 | X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome | Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin |
| 69-75 | Deletions in CCM2 | Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk |
| 76-90 | Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants | Min Shi, Kaare Christensen, Clarice R. Weinberg, Paul Romitti, Lise Bathum, Anthony Lozada, Richard W. Morris, Michael Lovett, Jeffrey C. Murray |
| 91-104 | A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome | Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R. Kimm, Ze Cheng, Douglas E. Horsman, Calum MacAulay, Raymond T. Ng, Carolyn J. Brown, Evan E. Eichler, Wan L. Lam |
| 105-111 | Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1 | Mohammed Naveed, Swapan K. Nath, Mathew Gaines, Mahmoud T. Al-Ali, Najib Al-Khaja, David Hutchings, Jeffrey Golla, Samuel Deutsch, Armand Bottani, Stylianos E. Antonarakis, Uppala Ratnamala, Uppala Radhakrishna |
| 112-125 | Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure | Maoxia Zheng, Mary Sara McPeek |
| 126-139 | Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide–Polymorphism Association Studies | John V. Pearson, Matthew J. Huentelman, Rebecca F. Halperin, Waibhav D. Tembe, Stacey Melquist, Nils Homer, Marcel Brun, Szabolcs Szelinger, Keith D. Coon, Victoria L. Zismann, Jennifer A. Webster, Thomas Beach, Sigrid B. Sando, Jan O. Aasly, Reinhard Heun, Frank Jessen, Heike Kölsch, Magdalini Tsolaki, Makrina Daniilidou, Eric M. Reiman, et al. | |
| 140-151 | An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 | M. Upadhyaya, S.M. Huson, M. Davies, N. Thomas, N. Chuzhanova, S. Giovannini, D.G. Evans, E. Howard, B. Kerr, S. Griffiths, C. Consoli, L. Side, D. Adams, M. Pierpont, R. Hachen, A. Barnicoat, H. Li, P. Wallace, J.P. Van Biervliet, D. Stevenson, et al. | |
| 152-161 | Mutations in the KIAA0196 | Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau |
| 162-167 | Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 | Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel G. Laing, Basil T. Darras, Sutherland K. Maciver, Philip R. Dormitzer, Alan H. Beggs |
| 168-177 | Genotype × Adiposity Interaction Linkage Analyses Reveal a Locus on Chromosome 1 for Lipoprotein-Associated Phospholipase A2, a Marker of Inflammation and Oxidative Stress | Vincent P. Diego, David L. Rainwater, Xing-Li Wang, Shelley A. Cole, Joanne E. Curran, Matthew P. Johnson, Jeremy B.M. Jowett, Thomas D. Dyer, Jeff T. Williams, Eric K. Moses, Anthony G. Comuzzie, Jean W. MacCluer, Michael C. Mahaney, John Blangero |
| 178-185 | An Evaluation of Power and Type I Error of Single-Nucleotide Polymorphism Transmission/Disequilibrium–Based Statistical Methods under Different Family Structures, Missing Parental Data, and Population Stratification | Kristin K. Nicodemus, Augustin Luna, Yin Yao Shugart |
| 186-194 | The Meckel-Gruber Syndrome Gene, MKS3, | Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, et al. | |
| 195-199 | Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration | Ference J. Loupatty, Peter T. Clayton, Jos P.N. Ruiter, Rob Ofman, Lodewijk IJlst, Garry K. Brown, David R. Thorburn, Robert A. Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon J.R. Heales, Ronald J.A. Wanders |
| 200 | ASHG Receives $1.1 Million NSF Grant | Kenna R. Mills Shaw |
| 201-203 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 205-220 | The Role of Neuronal Complexes in Human X-Linked Brain Diseases | Frédéric Laumonnier, Peter C. Cuthbert, Seth G.N. Grant |
| 221-231 | CGG-Repeat Expansion in the DIP2B | Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, Dominique Smeets, Arie Smits, David R. FitzPatrick, R. Frank Kooy |
| 232-240 | Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome | Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer König, Eva Seemanova, André Megarbane, Hans-Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos |
| 241-252 | A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 | David L. Duffy, Grant W. Montgomery, Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm |
| 253-264 | Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q | Yen-Pei Christy Chang, Xin Liu, James Dae Ok Kim, Morna A. Ikeda, Marnie R. Layton, Alan B. Weder, Richard S. Cooper, Sharon L.R. Kardia, D.C. Rao, Steve C. Hunt, Amy Luke, Eric Boerwinkle, Aravinda Chakravarti |
| 265-272 | Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families | The Tourette Syndrome Association International Consortium for Genetics |
| 273-290 | A Large-Scale Genetic Association Study Confirms IL12B | Michele Cargill, Steven J. Schrodi, Monica Chang, Veronica E. Garcia, Rhonda Brandon, Kristina P. Callis, Nori Matsunami, Kristin G. Ardlie, Daniel Civello, Joseph J. Catanese, Diane U. Leong, Jackie M. Panko, Linda B. McAllister, Christopher B. Hansen, Jason Papenfuss, Stephen M. Prescott, Thomas J. White, Mark F. Leppert, Gerald G. Krueger, Ann B. Begovich |
| 291-297 | Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus–Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency | S. Kügler, R. Hahnewald, M. Garrido, J. Reiss |
| 298-305 | Inheritance of Mitochondrial DNA Recombinants in Double-Heteroplasmic Families: Potential Implications for Phylogenetic Analysis | Gábor Zsurka, Kevin G. Hampel, Tatiana Kudina, Cornelia Kornblum, Yevgenia Kraytsberg, Christian E. Elger, Konstantin Khrapko, Wolfram S. Kunz |
| 306-315 | GDF6, | Mika Asai-Coakwell, Curtis R. French, Karyn M. Berry, Ming Ye, Ron Koss, Martin Somerville, Rosemary Mueller, Veronica van Heyningen, Andrew J. Waskiewicz, Ordan J. Lehmann |
| 316-328 | Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata | Amalia Martinez-Mir, Abraham Zlotogorski, Derek Gordon, Lynn Petukhova, Jianhong Mo, T. Conrad Gilliam, Douglas Londono, Chad Haynes, Jurg Ott, Maria Hordinsky, Krassimira Nanova, David Norris, Vera Price, Madeleine Duvic, Angela M. Christiano |
| 329-337 | ALAD Porphyria Is a Conformational Disease | Eileen K. Jaffe, Linda Stith |
| 338-344 | Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia | Mustafa Tekin, Burcu Öztürk Hişmi, Suat Fitoz, Hilal Özdağ, Filiz Başak Cengiz, Aslı Sırmacı, İdil Aslan, Bora İnceoğlu, E. Berrin Yüksel-Konuk, Seda Taşır Yılmaz, Öztan Yasun, Nejat Akar |
| 345-352 | Mutations in CUL4B, | Patrick S. Tarpey, F. Lucy Raymond, Sarah O’Meara, Sarah Edkins, Jon Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, et al. | |
| 353-360 | Improved Power by Use of a Weighted Score Test for Linkage Disequilibrium Mapping | Tao Wang, Robert C. Elston |
| 361-371 | Mutations in HOXD13 | Xiuli Zhao, Miao Sun, Jin Zhao, J. Alfonso Leyva, Hongwen Zhu, Wei Yang, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Wilson H.Y. Lo, Ethylin Wang Jabs, L. Mario Amzel, Xiangnian Shan, Xue Zhang |
| 372-377 | The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior | Claus Lenski, R. Frank Kooy, Edwin Reyniers, Daniela Loessner, Ronald J.A. Wanders, Birgitta Winnepenninckx, Heide Hellebrand, Stefanie Engert, Charles E. Schwartz, Alfons Meindl, Juliane Ramser |
| 378-382 | Associating Mitochondrial DNA Variation with Complex Traits | Joanna L. Elson, Kari Majamaa, Neil Howell, Patrick F. Chinnery |
| 382-383 | Reply to Elson et al. | Richa Saxena, Paul I.W. de Bakker, Leif C. Groop, Mark J. Daly, David Altshuler |
| 383-386 | Genetic Association Analysis of RHOB | John Loughlin, Ingrid Meulenbelt, Josine Min, Zehra Mustafa, Janet S. Sinsheimer, Andrew Carr, P. Eline Slagboom |
| 386-387 | Reply to Loughlin et al. | Sandra Mahr, Holger Kirsten, Brigitte Müller |
| 388 | Erratum | |
| 389 | Conflict of Interest: The “Interest” of ASHG | Joann A. Boughman |
| 390-391 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 393-406 | Reduced Neuron-Specific Expression of the TAF1 | Satoshi Makino, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Satoshi Goto, Shinnichi Matsumoto, Ma. Daisy Tabuena, Elma Maranon, Marita Dantes, Lillian V. Lee, Kazumasa Ogasawara, Ikuo Tooyama, Hiroyasu Akatsu, Masataka Nishimura, Gen Tamiya |
| 407-415 | Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians | Noriyuki Fuku, Kyong Soo Park, Yoshiji Yamada, Yutaka Nishigaki, Young Min Cho, Hitoshi Matsuo, Tomonori Segawa, Sachiro Watanabe, Kimihiko Kato, Kiyoshi Yokoi, Yoshinori Nozawa, Hong Kyu Lee, Masashi Tanaka |
| 416-432 | Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD | Karsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert, Orly Elpeleg, Adrian R. Krainer, Niels Gregersen, Jørgen Kjems, Brage Storstein Andresen |
| 433-440 | A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy | Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Gröbe, Gerhard Hammersen, Ulrich Schwarzer, Thorsten Marquardt |
| 441-456 | Evidence of Positive Selection on a Class I ADH | Yi Han, Sheng Gu, Hiroki Oota, Michael V. Osier, Andrew J. Pakstis, William C. Speed, Judith R. Kidd, Kenneth K. Kidd |
| 457-466 | First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure | Nicolaas G.J. Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H.J. Hoeijmakers, Wim Vermeulen |
| 467-477 | Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, | Lina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat |
| 478-484 | Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation | Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, Wolfgang Sperl |
| 485-494 | Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation | Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz |
| 495-501 | The Evolution of Satellite III DNA Subfamilies among Primates | Malgorzata Jarmuż, Caron D. Glotzbach, Kristen A. Bailey, Ruma Bandyopadhyay, Lisa G. Shaffer |
| 502-509 | Gene-Expression Variation Within and Among Human Populations | John D. Storey, Jennifer Madeoy, Jeanna L. Strout, Mark Wurfel, James Ronald, Joshua M. Akey |
| 510-517 | Human TBX1 | Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E. Campbell, Anita Rauch |
| 518-525 | Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1 | Jiong Yan, Weimin Bi, James R. Lupski |
| 526-530 | Polymorphic Variation in Human Meiotic Recombination | Vivian G. Cheung, Joshua T. Burdick, Deborah Hirschmann, Michael Morley |
| 531-538 | No Gene Is an Island: The Flip-Flop Phenomenon | Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin |
| 539-549 | Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33 | Simone Sanna-Cherchi, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Marco Seri, Anita Konka, Danio Somenzi, Alba Carrea, Claudia Izzi, Domenica Casu, Landino Allegri, Kai M. Schmidt-Ott, Jonathan Barasch, Francesco Scolari, Roberto Ravazzolo, Gian Marco Ghiggeri, Ali G. Gharavi |
| 550-560 | Mutations in STRA6 | Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat, Gunnar Houge, Lorena Fernández-Martínez, Sarah Keating, Geert Mortier, Raoul C.M. Hennekam, Axel von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, et al. | |
| 561-566 | Mutation in CUL4B, | Yongxin Zou, Qiji Liu, Bingxi Chen, Xiyu Zhang, Chenhong Guo, Haibin Zhou, Jiangxia Li, Guimin Gao, Yishou Guo, Chuanzhu Yan, Jianjun Wei, Changshun Shao, Yaoqin Gong |
| 567-576 | Efficient Association Mapping of Quantitative Trait Loci with Selective Genotyping | B.E. Huang, D.Y. Lin |
| 577-579 | The Use of Inferred Haplotypes in Downstream Analyses | D.Y. Lin, B.E. Huang |
| 580 | Erratum | Valente et al. (January 2007 80:44–58) |
| 581-582 | Genomewide Association Studies Data Sharing: National Institutes of Health Policy Process | Joann A. Boughman |
| 583-584 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 585-587 | Robert J. Gorlin, 1923–2006: Evolution of His Phenotype | M. Michael Cohen |
| 588-604 | Mendelian Inheritance in Man | Victor A. McKusick |
| 605-615 | Overcoming the Winner’s Curse: Estimating Penetrance Parameters from Case-Control Data | Sebastian Zöllner, Jonathan K. Pritchard |
| 616-632 | Disruption of ROBO2 | Weining Lu, Albertien M. van Eerde, Xueping Fan, Fabiola Quintero-Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung-Goo Kim, Yanli Fan, Qiongchao Xi, Qing-gang Li, Damien Sanlaville, William Andrews, Vasi Sundaresan, Weimin Bi, Jiong Yan, Jacques C. Giltay, Cisca Wijmenga, Tom P. V.M. de Jong, Sally A. Feather, Adrian S. Woolf, et al. | |
| 633-649 | Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype | Lorraine Potocki, Weimin Bi, Diane Treadwell-Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel Glaze, Kevin Krull, Jennifer A. Lee, Richard Alan Lewis, Roberto Mendoza-Londono, Patricia Robbins-Furman, Chad Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Pawel Stankiewicz, James R. Lupski |
| 650-663 | Peakwide Mapping on Chromosome 3q13 Identifies the Kalirin Gene as a Novel Candidate Gene for Coronary Artery Disease | Liyong Wang, Elizabeth R. Hauser, Svati H. Shah, Margaret A. Pericak-Vance, Carol Haynes, David Crosslin, Marco Harris, Sarah Nelson, A. Brent Hale, Christopher B. Granger, Jonathan L. Haines, Christopher J.H. Jones, David Crossman, David Seo, Simon G. Gregory, William E. Kraus, Pascal J. Goldschmidt-Clermont, Jeffery M. Vance |
| 664-672 | A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 | Khalid Choudhury, Andrew McQuillin, Vinay Puri, Jonathan Pimm, Susmita Datta, Srinivasa Thirumalai, Robert Krasucki, Jacob Lawrence, Nicholas J. Bass, Digby Quested, Caroline Crombie, Gillian Fraser, Nicholas Walker, Haitham Nadeem, Sophie Johnson, David Curtis, David St. Clair, Hugh M.D. Gurling |
| 673-682 | Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol | Guillaume Paré, David Serre, Diane Brisson, Sonia S. Anand, Alexandre Montpetit, Gérald Tremblay, James C. Engert, Thomas J. Hudson, Daniel Gaudet |
| 683-691 | Leveraging the HapMap Correlation Structure in Association Studies | Noah Zaitlen, Hyun Min Kang, Eleazar Eskin, Eran Halperin |
| 692-704 | The Strength of Selection on Ultraconserved Elements in the Human Genome | Christina T.L. Chen, Jen C. Wang, Barak A. Cohen |
| 705-715 | Association Mapping via Regularized Regression Analysis of Single-Nucleotide–Polymorphism Haplotypes in Variable-Sized Sliding Windows | Yi Li, Wing-Kin Sung, Jian Jun Liu |
| 716-726 | Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels | David Reich, Nick Patterson, Vijaya Ramesh, Philip L. De Jager, Gavin J. McDonald, Arti Tandon, Edwin Choy, Donglei Hu, Bani Tamraz, Ludmila Pawlikowska, Christina Wassel-Fyr, Scott Huntsman, Alicja Waliszewska, Elizabeth Rossin, Rongling Li, Melissa Garcia, Alexander Reiner, Robert Ferrell, Steve Cummings, Pui-Yan Kwok, et al. | |
| 727-739 | Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies | Gregory V. Kryukov, Len A. Pennacchio, Shamil R. Sunyaev |
| 740-750 | Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs | A.M. Eeds, D. Mortlock, R. Wade-Martins, M.L. Summar |
| 751-758 | Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement | Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, William Reardon, Peter J. Milla, Andrea Ballabio, Alfredo Ciccodicola, Alberto Auricchio |
| 759-768 | Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans | Alessandro Achilli, Anna Olivieri, Maria Pala, Ene Metspalu, Simona Fornarino, Vincenza Battaglia, Matteo Accetturo, Ildus Kutuev, Elsa Khusnutdinova, Erwan Pennarun, Nicoletta Cerutti, Cornelia Di Gaetano, Francesca Crobu, Domenico Palli, Giuseppe Matullo, A. Silvana Santachiara-Benerecetti, L. Luca Cavalli-Sforza, Ornella Semino, Richard Villems, Hans-Jürgen Bandelt, et al. | |
| 769-778 | Identification of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms | Stacey Melquist, David W. Craig, Matthew J. Huentelman, Richard Crook, John V. Pearson, Matt Baker, Victoria L. Zismann, Jennifer Gass, Jennifer Adamson, Szabolcs Szelinger, Jason Corneveaux, Ashley Cannon, Keith D. Coon, Sarah Lincoln, Charles Adler, Paul Tuite, Donald B. Calne, Eileen H. Bigio, Ryan J. Uitti, Zbigniew K. Wszolek, et al. | |
| 779-791 | Medical Sequencing at the Extremes of Human Body Mass | Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, Sybil Hébert, Heather Doelle, Baran Ersoy, Gregory Kryukov, Steffen Schmidt, Nir Yosef, Eytan Ruppin, Roded Sharan, Christian Vaisse, Shamil Sunyaev, Robert Dent, Jonathan Cohen, Ruth McPherson, Len A. Pennacchio |
| 792-799 | Disruption of Diacylglycerol Kinase Delta (DGKD | Natalia T. Leach, Yi Sun, Sebastien Michaud, Yi Zheng, Keith L. Ligon, Azra H. Ligon, Thomas Sander, Bruce R. Korf, Weining Lu, David J. Harris, James F. Gusella, Richard L. Maas, Bradley J. Quade, Andrew J. Cole, Max B. Kelz, Cynthia C. Morton |
| 800-804 | Transcription Factor SIX5 | Bethan E. Hoskins, Carl H. Cramer, Derek Silvius, Dan Zou, Richard M. Raymond Jr., Dana J. Orten, William J. Kimberling, Richard J.H. Smith, Dominique Weil, Christine Petit, Edgar A. Otto, Pin-Xian Xu, Friedhelm Hildebrandt |
| 805-810 | Germline Mutation of INI1/SMARCB1 | Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman, Els C. Robanus-Maandag, Frank Baas, Pieter Wesseling |
| 811-815 | Heterozygous Mutations in TREX1 | Gillian Rice, William G. Newman, John Dean, Teresa Patrick, Rekha Parmar, Kim Flintoff, Peter Robins, Scott Harvey, Thomas Hollis, Ann O’Hara, Ariane L. Herrick, Andrew P. Bowden, Fred W. Perrino, Tomas Lindahl, Deborah E. Barnes, Yanick J. Crow |
| 816 | Erratum | Nielsen et al. (March 2007 80:416–432) |
| 817 | Congress 110 | Joann A. Boughman |
| 818-821 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 823-824 | Maimon M. Cohen: January 24, 1935, to January 25, 2007 | Kurt Hirschhorn, Michael Kaback, David Rimoin |
| 825-845 | Genetic Factors in Congenital Diaphragmatic Hernia | A.M. Holder, M. Klaassens, D. Tibboel, A. de Klein, B. Lee, D.A. Scott |
| 846-855 | The Methylenetetrahydrofolate Reductase 677C→T Polymorphism as a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism | Steinar Hustad, Øivind Midttun, Jørn Schneede, Stein Emil Vollset, Tom Grotmol, Per Magne Ueland |
| 856-866 | Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples | Scott F. Saccone, Michele L. Pergadia, Anu Loukola, Ulla Broms, Grant W. Montgomery, Jen C. Wang, Arpana Agrawal, Danielle M. Dick, Andrew C. Heath, Alexandre A. Todorov, Heidi Maunu, Kauko Heikkilä, Katherine I. Morley, John P. Rice, Richard D. Todd, Jaakko Kaprio, Leena Peltonen, Nicholas G. Martin, Alison M. Goate, Pamela A.F. Madden |
| 867-875 | Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, | Henrik Källberg, Leonid Padyukov, Robert M. Plenge, Johan Rönnelid, Peter K. Gregersen, Annette H.M. van der Helm-van Mil, Rene E.M. Toes, Tom W. Huizinga, Lars Klareskog, Lars Alfredsson and for the Epidemiological Investigation of Rheumatoid Arthritis (EIRA) Study Group |
| 876-883 | Nova2 Interacts with a Cis | Erin L. Heinzen, Woohyun Yoon, Sarah K. Tate, Arjune Sen, Nicholas W. Wood, Sanjay M. Sisodiya, David B. Goldstein |
| 884-894 | The Himalayas as a Directional Barrier to Gene Flow | Tenzin Gayden, Alicia M. Cadenas, Maria Regueiro, Nanda B. Singh, Lev A. Zhivotovsky, Peter A. Underhill, Luigi L. Cavalli-Sforza, Rene J. Herrera |
| 895-910 | Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype | Reinhard Kalb, Kornelia Neveling, Holger Hoehn, Hildegard Schneider, Yvonne Linka, Sat Dev Batish, Curtis Hunt, Marianne Berwick, Elsa Callén, Jordi Surrallés, José A. Casado, Juan Bueren, Ángeles Dasí, Jean Soulier, Eliane Gluckman, C. Michel Zwaan, Rosalina van Spaendonk, Gerard Pals, Johan P. de Winter, Hans Joenje, et al. | |
| 911-920 | Improving Power in Contrasting Linkage-Disequilibrium Patterns between Cases and Controls | Tao Wang, Xiaofeng Zhu, Robert C. Elston |
| 921-930 | A Simple and Improved Correction for Population Stratification in Case-Control Studies | Michael P. Epstein, Andrew S. Allen, Glen A. Satten |
| 931-937 | Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway | Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen |
| 938-947 | Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities | Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, Åke Borg, David Valle, Lisa A. Schimmenti, Scott B. Selleck |
| 948-956 | Measuring European Population Stratification with Microarray Genotype Data | Marc Bauchet, Brian McEvoy, Laurel N. Pearson, Ellen E. Quillen, Tamara Sarkisian, Kristine Hovhannesyan, Ranjan Deka, Daniel G. Bradley, Mark D. Shriver |
| 957-965 | CHD7 | Xiaochong Gao, Derek Gordon, Dongping Zhang, Richard Browne, Cynthia Helms, Joseph Gillum, Samuel Weber, Shonn Devroy, Saralove Swaney, Matthew Dobbs, Jose Morcuende, Val Sheffield, Michael Lovett, Anne Bowcock, John Herring, Carol Wise |
| 966-970 | Mutations in Cytokine Receptor-Like Factor 1 (CRLF1 | N. Dagoneau, S. Bellais, P. Blanchet, P. Sarda, L.I. Al-Gazali, M. Di Rocco, C. Huber, F. Djouadi, C. Le Goff, A. Munnich, V. Cormier-Daire |
| 971-981 | Crisponi Syndrome Is Caused by Mutations in the CRLF1 | Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, et al. | |
| 982-987 | Mutations in ZDHHC9, | F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, et al. | |
| 988-993 | Mutations in TCF4, | Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Munnich, Laurence Colleaux |
| 994-1001 | Haploinsufficiency of TCF4 | Christiane Zweier, Maarit M. Peippo, Juliane Hoyer, Sérgio Sousa, Armand Bottani, Jill Clayton-Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koen Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C.M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch |
| 1002 | Erratum | |
| 1003-1004 | The Federal Maze | Joann A. Boughman |
| 1005-1008 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1009-1013 | Arthur G. Steinberg, 1912–2006 | Trefor Jenkins |
| 1014-1023 | A Genomewide Single-Nucleotide–Polymorphism Panel for Mexican American Admixture Mapping | Chao Tian, David A. Hinds, Russell Shigeta, Sharon G. Adler, Annette Lee, Madeleine V. Pahl, Gabriel Silva, John W. Belmont, Robert L. Hanson, William C. Knowler, Peter K. Gregersen, Dennis G. Ballinger, Michael F. Seldin |
| 1024-1036 | A Genomewide Admixture Map for Latino Populations | Alkes L. Price, Nick Patterson, Fuli Yu, David R. Cox, Alicja Waliszewska, Gavin J. McDonald, Arti Tandon, Christine Schirmer, Julie Neubauer, Gabriel Bedoya, Constanza Duque, Alberto Villegas, Maria Catira Bortolini, Francisco M. Salzano, Carla Gallo, Guido Mazzotti, Marcela Tello-Ruiz, Laura Riba, Carlos A. Aguilar-Salinas, Samuel Canizales-Quinteros, et al. | |
| 1037-1054 | Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European Americans | Yan Yang, Erwin K. Chung, Yee Ling Wu, Stephanie L. Savelli, Haikady N. Nagaraja, Bi Zhou, Maddie Hebert, Karla N. Jones, Yaoling Shu, Kathryn Kitzmiller, Carol A. Blanchong, Kim L. McBride, Gloria C. Higgins, Robert M. Rennebohm, Robert R. Rice, Kevin V. Hackshaw, Robert A.S. Roubey, Jennifer M. Grossman, Betty P. Tsao, Daniel J. Birmingham, et al. | |
| 1055-1063 | Transcriptional Control of SLC26A4 | Tao Yang, Hilmar Vidarsson, Sandra Rodrigo-Blomqvist, Sally S. Rosengren, Sven Enerbäck, Richard J.H. Smith |
| 1064-1075 | Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy | Marcelo Fernandes Costa, Andre Gustavo Fernandes Oliveira, Claudia Feitosa-Santana, Mayana Zatz, Dora Fix Ventura |
| 1076-1089 | A Mutation in CCDC50, | Silvia Modamio-Høybjør, Ángeles Mencía, Richard Goodyear, Ignacio del Castillo, Guy Richardson, Felipe Moreno, Miguel Ángel Moreno-Pelayo |
| 1090-1102 | Homozygosity Haplotype Allows a Genomewide Search for the Autosomal Segments Shared among Patients | Hitoshi Miyazawa, Masaaki Kato, Takuya Awata, Masakazu Kohda, Hiroyasu Iwasa, Nobuyuki Koyama, Tomoaki Tanaka, Huqun, Shunei Kyo, Yasushi Okazaki, Koichi Hagiwara |
| 1103-1114 | IRAK-M | Lenuta Balaci, Maria Cristina Spada, Nazario Olla, Gabriella Sole, Laura Loddo, Francesca Anedda, Silvia Naitza, Maria Antonietta Zuncheddu, Andrea Maschio, Daniele Altea, Manuela Uda, Sabrina Pilia, Serena Sanna, Marco Masala, Laura Crisponi, Matilde Fattori, Marcella Devoto, Silvia Doratiotto, Stefania Rassu, Simonetta Mereu, et al. | |
| 1115-1124 | A Common Haplotype in the G-Protein–Coupled Receptor Gene GPR74 | Ingrid Dahlman, Andrea Dicker, Hong Jiao, Juha Kere, Lennart Blomqvist, Vanessa van Harmelen, Johan Hoffstedt, Knut Borch-Johnsen, Torben Jörgensen, Torben Hansen, Oluf Pedersen, Markku Laakso, Peter Arner |
| 1125-1137 | A Generalized Combinatorial Approach for Detecting Gene-by-Gene and Gene-by-Environment Interactions with Application to Nicotine Dependence | Xiang-Yang Lou, Guo-Bo Chen, Lei Yan, Jennie Z. Ma, Jun Zhu, Robert C. Elston, Ming D. Li |
| 1138-1149 | Defining the Cause of Skewed X-Chromosome Inactivation in X-Linked Mental Retardation by Use of a Mouse Model | Mary R. Muers, Jacqueline A. Sharpe, David Garrick, Jacqueline Sloane-Stanley, Patrick M. Nolan, Terry Hacker, William G. Wood, Douglas R. Higgs, Richard J. Gibbons |
| 1150-1161 | Type 2 Diabetes TCF7L2 | Rachel M. Freathy, Michael N. Weedon, Amanda Bennett, Elina Hyppönen, Caroline L. Relton, Beatrice Knight, Beverley Shields, Kirstie S. Parnell, Christopher J. Groves, Susan M. Ring, Marcus E. Pembrey, Yoav Ben-Shlomo, David P. Strachan, Chris Power, Marjo-Riitta Jarvelin, Mark I. McCarthy, George Davey Smith, Andrew T. Hattersley, Timothy M. Frayling |
| 1162-1170 | RAB23 | Dagan Jenkins, Dominik Seelow, Fernanda S. Jehee, Chad A. Perlyn, Luís G. Alonso, Daniela F. Bueno, Dian Donnai, Dragana Josifiova, Irene M.J. Mathijssen, Jenny E.V. Morton, Karen Helene Ørstavik, Elizabeth Sweeney, Steven A. Wall, Jeffrey L. Marsh, Peter Nürnberg, Maria Rita Passos-Bueno, Andrew O.M. Wilkie |
| 1171-1178 | A Genomewide Admixture Mapping Panel for Hispanic/Latino Populations | Xianyun Mao, Abigail W. Bigham, Rui Mei, Gerardo Gutierrez, Ken M. Weiss, Tom D. Brutsaert, Fabiola Leon-Velarde, Lorna G. Moore, Enrique Vargas, Paul M. McKeigue, Mark D. Shriver, Esteban J. Parra |
| 1179-1187 | Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 | Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano-Bessières, Maryse Bonnière, Sophie Delahaye, Arnold Munnich, Férechté Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitach, Heather C. Etchevers |
| 1188-1193 | Intragenic Cis | Neil J. Risch, Susan B. Bressman, Geetha Senthil, Laurie J. Ozelius |
| 1194 | Addendum | |
| 1195-1196 | ASHG Board Emphasizes Communication and Involvement | Joann A. Boughman |
| 1197-1199 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1-16 | Mutations in FGD4 | Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irène Boccaccio, Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbané, Georg Haase, Nicolas Lévy |
| 17-31 | A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population | Fan Liu, Alejandro Arias-Vásquez, Kristel Sleegers, Yurii S. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan, Bing-Jian Feng, Aida M. Bertoli-Avella, John van Swieten, Tatiana I. Axenovich, Peter Heutink, Christine van Broeckhoven, Ben A. Oostra, Cornelia M. van Duijn |
| 32-43 | Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD | Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, Evgeny I. Rogaev |
| 44-52 | Evidence of Amino Acid Diversity–Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ | David Hamm, Brian S. Mautz, Mariana F. Wolfner, Charles F. Aquadro, Willie J. Swanson |
| 53-66 | Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families | Min Shi, David M. Umbach, Clarice R. Weinberg |
| 67-76 | The Nuclear Factor κB–Activator Gene PLEKHG5 | Isabelle Maystadt, René Rezsöhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Sophie Remacle, Barbara Lambert, Mustapha Najimi, Etienne Sokal, Arnold Munnich, Louis Viollet, Christine Verellen-Dumoulin |
| 77-86 | Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling | Mark O’Driscoll, William B. Dobyns, Johanna M. van Hagen, Penny A. Jeggo |
| 87-103 | A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency | M. He, S.L. Rutledge, D.R. Kelly, C.A. Palmer, G. Murdoch, N. Majumder, R.D. Nicholls, Z. Pei, P.A. Watkins, J. Vockley |
| 104-113 | CEP290 | Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D'Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C.M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, et al. | |
| 114-126 | Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide–Polymorphism Genotyping Microarrays | Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata, Akira Hangaishi, Mineo Kurokawa, Shigeru Chiba, D. Gary Gilliland, H. Phillip Koeffler, Seishi Ogawa |
| 127-135 | RNA Interference–Mediated Suppression and Replacement of Human Rhodopsin In Vivo | Mary O’Reilly, Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Marius Ader, Thérèse Cronin, Thérèse Tuohy, Alberto Auricchio, Markus Hildinger, Amanda Tivnan, Niamh McNally, Marian M. Humphries, Anna-Sophia Kiang, Pete Humphries, Paul F. Kenna, G. Jane Farrar |
| 136-146 | The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 | Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiao-Qing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki |
| 147-157 | Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa | Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman, Kirsten Robberecht, Wim Wuyts, Paul J. Coucke, Elfride De Baere |
| 158-164 | Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 | Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge Pereira, François Castagner, Axel Niemann, Janbernd Kirschner, Rudolf Korinthenberg, Uwe-Peter Ketelsen, Esra Battaloglu, Yesim Parman, Garth Nicholson, Robert Ouvrier, Jürgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Krüttgen, Sabine Rudnik-Schöneborn, Carsten Bergmann, Ueli Suter, et al. | |
| 165-169 | Correlation of Intergenerational Family Sizes Suggests a Genetic Component of Reproductive Fitness | Anna Pluzhnikov, Daniel K. Nolan, Zhiqiang Tan, Mary Sara McPeek, Carole Ober |
| 170-179 | Pleiotropic Effects of CEP290 | Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joëlle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, et al. | |
| 180-188 | Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1 | Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D. Mandhyan, David Hutchings, Uppala Ratnamala, Ken McElreavey, Lucia Bartoloni, Gregory S. Antonarakis, Stylianos E. Antonarakis, Uppala Radhakrishna |
| 189-195 | Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c | Steve E. Durham, David C. Samuels, Lynsey M. Cree, Patrick F. Chinnery |
| 196 | Erratum | |
| 196 | Erratum | |
| 197 | ASHG Continues Its Support of DNA Day | Kenna Shaw |
| 198 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 199-207 | New Perspectives for the Elucidation of Genetic Disorders | Hans-Hilger Ropers |
| 208-227 | A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies | Jon Wakefield |
| 228-233 | Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background | Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna Elson, Neil Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Alfredo A. Sadun, Solange R. Salomao, Rubens Belfort Jr., Philip Griffiths, Patrick Yu Wai Man, Rene F.M. de Coo, et al. | |
| 234-242 | Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants | George Ayodo, Alkes L. Price, Alon Keinan, Arthur Ajwang, Michael F. Otieno, Alloys S.S. Orago, Nick Patterson, David Reich |
| 243-251 | Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 | Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen |
| 252-263 | Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance | Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Celine Delucinge Vivier, Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie Sherman, Franca Dagna Bricarelli, Chiara Baldo, Antonio Novelli, Bruno Dallapiccola, Stylianos E. Antonarakis |
| 264-279 | Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy | Jannine Clapp, Laura M. Mitchell, Daniel J. Bolland, Judy Fantes, Anne E. Corcoran, Paul J. Scotting, John A.L. Armour, Jane E. Hewitt |
| 280-291 | Mutations in Cardiac T-Box Factor Gene TBX20 | Edwin P. Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro, Tanya L. Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway, Joel P. Mackay, Leigh B. Waddell, Andrew D. Cole, Christopher Hayward, Anne Keogh, Peter Macdonald, Lyn Griffiths, Diane Fatkin, Gary F. Sholler, Aaron M. Zorn, et al. | |
| 292-303 | Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum | Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D.C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, Graeme C.M. Black |
| 304-320 | Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components | Jianfeng Liu, Yongjun Liu, Xiaogang Liu, Hong-Wen Deng |
| 338-345 | Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium | Jukka T. Salonen, Pekka Uimari, Juha-Matti Aalto, Mia Pirskanen, Jari Kaikkonen, Boryana Todorova, Jelena Hyppönen, Veli-Pekka Korhonen, Janne Asikainen, Christopher Devine, Tomi-Pekka Tuomainen, Jan Luedemann, Matthias Nauck, Wolfgang Kerner, Richard H. Stephens, John P. New, William E. Ollier, J. Martin Gibson, Antony Payton, Michael A. Horan, et al. | |
| 346-360 | Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations | Rui Jiang, Hua Yang, Linqi Zhou, C.-C. Jay Kuo, Fengzhu Sun, Ting Chen |
| 361-366 | A Longer Polyalanine Expansion Mutation in the ARX | Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka |
| 367-374 | Mutations in the BRWD3 | Michael Field, Patrick S. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, Jon Teague, Adam Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, et al. | |
| 375-382 | Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects | Sian Ellard, Sarah E. Flanagan, Christophe A. Girard, Ann-Marie Patch, Lorna W. Harries, Andrew Parrish, Emma L. Edghill, Deborah J.G. Mackay, Peter Proks, Kenju Shimomura, Holger Haberland, Dennis J. Carson, Julian P.H. Shield, Andrew T. Hattersley, Frances M. Ashcroft |
| 383-387 | Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion | Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A. Shoubridge, Flemming Wibrand |
| 388-396 | A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN | K. Lehmann, P. Seemann, F. Silan, T.O. Goecke, S. Irgang, K.W. Kjaer, S. Kjaergaard, M.J. Mahoney, S. Morlot, C. Reissner, B. Kerr, A.O.M. Wilkie, S. Mundlos |
| 397-404 | Enriching the Analysis of Genomewide Association Studies with Hierarchical Modeling | Gary K. Chen, John S. Witte |
| 405-413 | Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 | Praveen Sethupathy, Christelle Borel, Maryline Gagnebin, Gregory R. Grant, Samuel Deutsch, Terry S. Elton, Artemis G. Hatzigeorgiou, Stylianos E. Antonarakis |
| 414-415 | Copy-Number Variations and Human Disease | Robert A. Hegele |
| 415 | Reply to Dr. Robert A. Hegele | Kendy K. Wong, Ronald J. deLeeuw, Carolyn J. Brown, Wan L. Lam |
| 415-416 | The TAF1/DYT3 | Ulrich Müller, Thilo Herzfeld, Dagmar Nolte |
| 417-418 | TAF1 | Gen Tamiya, Satoshi Makino, Ryuji Kaji |
| 418-419 | Numbers of Copy-Number Variations and False-Negative Rates Will Be Underestimated If We Do Not Account for the Dependence between Repeated Experiments | Andy G. Lynch, John C. Marioni, Simon Tavaré |
| 420 | Reply to Lynch et al. | Ronald J. deLeeuw, Kendy K. Wong, Raymond T. Ng, Wan L. Lam |
| 422-423 | Looking Back; Moving Forward | Joann Boughman |
| 424-426 | Announcements | |
| 321-337 | Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test | Timothy Thornton, Mary Sara McPeek |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 427-437 | Identification of Genetic Variants Contributing to Cisplatin-Induced Cytotoxicity by Use of a Genomewide Approach | R. Stephanie Huang, Shiwei Duan, Sunita J. Shukla, Emily O. Kistner, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, M. Eileen Dolan |
| 438-453 | Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J | Mehrdad Khajavi, Kensuke Shiga, Wojciech Wiszniewski, Feng He, Chad A. Shaw, Jiong Yan, Theodore G. Wensel, G. Jackson Snipes, James R. Lupski |
| 454-466 | Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 | L. Faivre, G. Collod-Beroud, B.L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H.C. Dietz, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, et al. | |
| 467-474 | Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells | Timo Otonkoski, Hong Jiao, Nina Kaminen-Ahola, Isabel Tapia-Paez, Mohammed S. Ullah, Laura E. Parton, Frans Schuit, Roel Quintens, Ilkka Sipilä, Ertan Mayatepek, Thomas Meissner, Andrew P. Halestrap, Guy A. Rutter, Juha Kere |
| 475-491 | Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes | E. Aït Yahya-Graison, J. Aubert, L. Dauphinot, I. Rivals, M. Prieur, G. Golfier, J. Rossier, L. Personnaz, N. Créau, H. Bléhaut, S. Robin, J.M. Delabar, M.-C. Potier |
| 492-506 | DLX5 | Birgitt Schüle, Hong Hua Li, Claudia Fisch-Kohl, Carolin Purmann, Uta Francke |
| 507-518 | Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 | Arjan P.M. de Brouwer, Kelly L. Williams, John A. Duley, André B.P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J.G. Banning, Melissa Roeffen, Ben C.J. Hamel, Linda Weaving, Robert A. Ouvrier, Jennifer A. Donald, Ron A. Wevers, John Christodoulou, Hansvan Bokhoven |
| 519-529 | Type and Level of RMRP | Christian T. Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch |
| 530-539 | Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, | Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor, Micha Volokita, Relly Hershkowitz, Khalil Elbedour, Ohad S. Birk |
| 540-551 | Flexible Design for Following Up Positive Findings | Kai Yu, Nilanjan Chatterjee, William Wheeler, Qizhai Li, Sophia Wang, Nathaniel Rothman, Sholom Wacholder |
| 552-558 | Mutations in PRPS1, | Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, Jong-Won Kim |
| 559-575 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses | Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A.R. Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I.W. de Bakker, Mark J. Daly, Pak C. Sham |
| 576-581 | NOBOX Homeobox Mutation Causes Premature Ovarian Failure | Yingying Qin, Youngsok Choi, Han Zhao, Joe Leigh Simpson, Zi-Jiang Chen, Aleksandar Rajkovic |
| 582-588 | The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study | Isabelle Peretz, Stéphanie Cummings, Marie-Pierre Dubé |
| 589-595 | Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 | Ginat Narkis, Rivka Ofir, Esther Manor, Daniella Landau, Khalil Elbedour, Ohad S. Birk |
| 596-606 | CHMP4B, | Alan Shiels, Thomas M. Bennett, Harry L.S. Knopf, Koki Yamada, Koh-ichiro Yoshiura, Norio Niikawa, Soomin Shim, Phyllis I. Hanson |
| 607-614 | Genomewide Weighted Hypothesis Testing in Family-Based Association Studies, with an Application to a 100K Scan | Iuliana Ionita-Laza, Matthew B. McQueen, Nan M. Laird, Christoph Lange |
| 615-625 | Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T-13910 Alleles in Humans | Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco, Mauro Rossi, Michael Lentze, J.K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S. Qasim Mehdi, et al. | |
| 626-633 | Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans | Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodriguez-Cintron, Esteban González Burchard, Neil J. Risch |
| 634 | Erratum | Hoopes et al. (February 2005 76:260–267) |
| 634 | Erratum | Yang et al. (June 2007 80:1055–1063) |
| 635-637 | ASHG Statement on Direct-to-Consumer Genetic Testing in the United States | Kathy Hudson, Gail Javitt, Wylie Burke, Peter Byers and with the ASHG Social Issues Committee |
| 638-640 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 641 | 2006 Cotterman Award Winners | |
| 642-645 | Our Society and the Scientist-Citizen | Stephen T. Warren |
| 646-647 | Introductory Speech for Dorothy Warburton | Patricia A. Jacobs |
| 648-656 | Having It All | Dorothy Warburton |
| 657 | Introductory Speech for Roberta A. Pagon | Kurt Hirschhorn |
| 658-659 | GeneTests: Integrating Genetic Services into Patient Care | Roberta A. Pagon |
| 660-661 | Introductory Speech for Hal Dietz | Victor A. McKusick |
| 662-667 | Marfan Syndrome: From Molecules to Medicines | Harry C. Dietz |
| 668-669 | Introductory Speech for David L. Rimoin | Michael Kaback |
| 670-672 | A Half Century of Medical Genetics—Where Do We Go from Here? | David L. Rimoin |
| 673-683 | A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2 | Sami Amr, Cindy Heisey, Min Zhang, Xia-Juan Xia, Kathryn H. Shows, Kamel Ajlouni, Arti Pandya, Leslie S. Satin, Hatem El-Shanti, Rita Shiang |
| 684-699 | Simultaneous Discovery and Testing of Deletions for Disease Association in SNP Genotyping Studies | Jared R. Kohler, David J. Cutler |
| 700-712 | TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression | Artemisia M. Andreou, Erwin Pauws, Marius C. Jones, Manvendra K. Singh, Markus Bussen, Kit Doudney, Gudrun E. Moore, Andreas Kispert, Jan J. Brosens, Philip Stanier |
| 713-725 | Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome | Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward M. Blair, Nenad Blau, David T. Bonthron, Tracy Briggs, Louise A. Brueton, et al. | |
| 726-743 | Simultaneously Correcting for Population Stratification and for Genotyping Error in Case-Control Association Studies | K.F. Cheng, W.J. Lin |
| 744-755 | A Chromosome 11q Quantitative-Trait Locus Influences Change of Blood-Pressure Measurements over Time in Mexican Americans of the San Antonio Family Heart Study | Sue Rutherford, Guowen Cai, Juan C. Lopez-Alvarenga, Jack W. Kent, V. Saroja Voruganti, J. Michael Proffitt, Joanne E. Curran, Mathew P. Johnson, Thomas D. Dyer, Jeremy B. Jowett, Raul A. Bastarrachea, Larry D. Atwood, Harald H.H. Göring, Jean W. MacCluer, Eric K. Moses, John Blangero, Anthony G. Comuzzie, Shelley A. Cole |
| 756-767 | Cowden Syndrome–Affected Patients with PTEN | Rosemary E. Teresi, Kevin M. Zbuk, Marcus G. Pezzolesi, Kristin A. Waite, Charis Eng |
| 768-779 | Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation | Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Gläser, Volkmar Liebscher, Thomas Meitinger, Tim M. Strom |
| 780-791 | An LRP8 | Gong-Qing Shen, Lin Li, Domenico Girelli, Sara B. Seidelmann, Shaoqi Rao, Chun Fan, Jeong Euy Park, Quansheng Xi, Jing Li, Ying Hu, Oliviero Olivieri, Kandice Marchant, John Barnard, Roberto Corrocher, Robert Elston, June Cassano, Susan Henderson, Stanley L. Hazen, Edward F. Plow, Eric J. Topol, et al. | |
| 792-798 | A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2 | Mohammad Mahdi Motazacker, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, Andreas Walter Kuss |
| 799-807 | Common Variants in the BMP2, BMP4, | Jacqueline Milet, Valérie Déhais, Catherine Bourgain, Anne Marie Jouanolle, Annick Mosser, Michèle Perrin, Jeff Morcet, Pierre Brissot, Véronique David, Yves Deugnier, Jean Mosser |
| 808-812 | A Bayesian Approach to Copy-Number–Polymorphism Analysis in Nuclear Pedigrees | Konstantina Kosta, Ian Sabroe, Jonathan Göke, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, M. Dawn Teare |
| 813-820 | Homozygous Mutation in SPATA16 | Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid R. Oudakker, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne, Hans van Bokhoven, Stéphane Viville |
| 821-828 | Mutation in WNT10A | Lynn Adaimy, Eliane Chouery, Hala Mégarbané, Salman Mroueh, Valérie Delague, Elsa Nicolas, Hanen Belguith, Philippe de Mazancourt, André Mégarbané |
| 829-834 | Allele-Specific Targeting of microRNAs to HLA-G | Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan, Julian Solway, James E. Gern, Robert F. Lemanske, Dan Nicolae, Carole Ober |
| 835-841 | Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome | Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto, Hiroki Maehara, Ichiro Owan, Fuminori Kanaya, Yoshiaki Kubota, Yuichi Oike, Toshiyuki Yamamoto, Kenji Kurosawa, Yoshimitsu Fukushima, Axel Bohring, John M. Opitz, Ko-ichiro Yoshiura, Norio Niikawa, Kenji Naritomi |
| 842-846 | Geographically Separate Increases in the Frequency of the Derived ADH1B*47His | Hui Li, Namita Mukherjee, Usha Soundararajan, Zsanett Tárnok, Csaba Barta, Shagufta Khaliq, Aisha Mohyuddin, Sylvester L.B. Kajuna, S. Qasim Mehdi, Judith R. Kidd, Kenneth K. Kidd |
| 847-856 | The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity | Ina Fickelscher, Thomas Liehr, Kathryn Watts, Victoria Bryant, John C.K. Barber, Simone Heidemann, Reiner Siebert, Jens Michael Hertz, Zeynep Tümer, N. Simon Thomas |
| 857-862 | Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia | Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg |
| 863-865 | Re: The Use of Inferred Haplotypes in Downstream Analysis | Peter Kraft, Daniel O. Stram |
| 865-866 | Reply to Peter Kraft and Daniel O. Stram | D.Y. Lin, B.E. Huang |
| 866-868 | Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1 | Sabine Uhrig, Dietmar Schlembach, Julie Waldispuehl-Geigl, Werner Schaffer, Jochen Geigl, Eva Klopocki, Stefan Mundlos, Michael R. Speicher |
| 869 | The World of AJHG | Joann Boughman |
| 870-871 | Announcements | |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 873-883 | A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 | Douglas F. Easton, Amie M. Deffenbaugh, Dmitry Pruss, Cynthia Frye, Richard J. Wenstrup, Kristina Allen-Brady, Sean V. Tavtigian, Alvaro N.A. Monteiro, Edwin S. Iversen, Fergus J. Couch, David E. Goldgar |
| 884-894 | Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy | Richard J.L.F. Lemmers, Mariëlle Wohlgemuth, Kristiaan J. van der Gaag, Patrick J. van der Vliet, Corrie M.M. van Teijlingen, Peter de Knijff, George W. Padberg, Rune R. Frants, Silvère M. van der Maarel |
| 906-912 | Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development | M.A. Simpson, R. Hsu, L.S. Keir, J. Hao, G. Sivapalan, L.M. Ernst, E.H. Zackai, L.I. Al-Gazali, G. Hulskamp, H.M. Kingston, T.E. Prescott, A. Ion, M.A. Patton, V. Murday, A. George, A.H. Crosby |
| 913-926 | Family-Based Association Tests for Genomewide Association Scans | Wei-Min Chen, Gonçalo R. Abecasis |
| 939-963 | Information-Theoretic Metrics for Visualizing Gene-Environment Interactions | Pritam Chanda, Aidong Zhang, Daniel Brazeau, Lara Sucheston, Jo L. Freudenheim, Christine Ambrosone, Murali Ramanathan |
| 964-973 | A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy | Angeliki Asimaki, Petros Syrris, Thomas Wichter, Paul Matthias, Jeffrey E. Saffitz, William J. McKenna |
| 974-986 | The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q | Rami Abou Jamra, Robert Fuerst, Radka Kaneva, Guillermo Orozco Diaz, Fabio Rivas, Fermin Mayoral, Eudoxia Gay, Sebastian Sans, Maria Jose González, Susana Gil, Francisco Cabaleiro, Francisco del Rio, Fermin Perez, Jesus Haro, Georg Auburger, Vihra Milanova, Christian Kostov, Vesselin Chorbov, Vessela Stoyanova, Amelia Nikolova-Hill, et al. | |
| 987-994 | Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1 | J.D. Karkera, J.S. Lee, E. Roessler, S. Banerjee-Basu, M.V. Ouspenskaia, J. Mez, E. Goldmuntz, P. Bowers, J. Towbin, J.W. Belmont, A.D. Baxevanis, A.F. Schier, M. Muenke |
| 995-1005 | Fine Mapping versus Replication in Whole-Genome Association Studies | Geraldine M. Clarke, Kim W. Carter, Lyle J. Palmer, Andrew P. Morris, Lon R. Cardon |
| 1006-1024 | Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases | Angel L. Pey, François Stricher, Luis Serrano, Aurora Martinez |
| 1025-1041 | Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations | Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, Galina Denisova, Irina Dambueva, Maria Perkova, Choduraa Dorzhu, Faina Luzina, Hong Kyu Lee, Tomas Vanecek, Richard Villems, Ilia Zakharov |
| 1042-1049 | Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance | Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, Dwight D. Koeberl |
| 1050-1056 | Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia | Margret L. Casal, John R. Lewis, Elizabeth A. Mauldin, Aubry Tardivel, Karine Ingold, Manuel Favre, Fabrice Paradies, Stéphane Demotz, Olivier Gaide, Pascal Schneider |
| 1057-1069 | Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy | Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, H. Hilger Ropers, Niels Tommerup, Evan E. Eichler, Christine Bellanne-Chantelot |
| 1070-1083 | Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV | Bhuvarahamurthy Venugopal, Marsha F. Browning, Cyntia Curcio-Morelli, Andrea Varro, Norman Michaud, Nanda Nanthakumar, Steven U. Walkley, James Pickel, Susan A. Slaugenhaupt |
| 1084-1097 | Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering | Sharon R. Browning, Brian L. Browning |
| 1098-1103 | Mutations in TOPORS | Christina F. Chakarova, Myrto G. Papaioannou, Hemant Khanna, Irma Lopez, Naushin Waseem, Amna Shah, Torsten Theis, James Friedman, Cecilia Maubaret, Kinga Bujakowska, Brotati Veraitch, Mai M. Abd El-Aziz, De Quincy Prescott, Sunil K. Parapuram, Wendy A. Bickmore, Peter M.G. Munro, Andreas Gal, Christian P. Hamel, Valeria Marigo, Chris P. Ponting, et al. | |
| 1104-1110 | Genome Partitioning of Genetic Variation for Height from 11,214 Sibling Pairs | Peter M. Visscher, Stuart Macgregor, Beben Benyamin, Gu Zhu, Scott Gordon, Sarah Medland, William G. Hill, Jouke-Jan Hottenga, Gonneke Willemsen, Dorret I. Boomsma, Yao-Zhong Liu, Hong-Wen Deng, Grant W. Montgomery, Nicholas G. Martin |
| 1111-1113 | Estimating Prevalence, False-Positive Rate, and False-Negative Rate with Use of Repeated Testing When True Responses Are Unknown | Johanna Jakobsdottir, Daniel E. Weeks |
| 1114 | Erratum | |
| 1115-1116 | Engaging the ASHG Membership | Joann Boughman |
| 1117-1118 | Announcements | |
| 895-905 | A Randomization Test for Controlling Population Stratification in Whole-Genome Association Studies | Gad Kimmel, Michael I. Jordan, Eran Halperin, Ron Shamir, Richard M. Karp |
| 927-938 | Haplotype-Based Association Analysis via Variance-Components Score Test | Jung-Ying Tzeng, Daowen Zhang |
| i-ii | This Month in the Journal | Robin E. Williamson |
| 1119-1132 | A Genomewide Association Study of Skin Pigmentation in a South Asian Population | Renee P. Stokowski, P.V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, David R. Cox |
| 1133-1143 | Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy | S. Gobin-Limballe, F. Djouadi, F. Aubey, S. Olpin, B.S. Andresen, S. Yamaguchi, H. Mandel, T. Fukao, J.P.N. Ruiter, R.J.A. Wanders, R. McAndrew, J.J. Kim, J. Bastin |
| 1144-1157 | Identification of the Transcriptional Targets of FOXP2, | Elizabeth Spiteri, Genevieve Konopka, Giovanni Coppola, Jamee Bomar, Michael Oldham, Jing Ou, Sonja C. Vernes, Simon E. Fisher, Bing Ren, Daniel H. Geschwind |
| 1158-1168 | So Many Correlated Tests, So Little Time! Rapid Adjustment of P | Karen N. Conneely, Michael Boehnke |
| 1169-1185 | Deletions at the SOX10 | Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Veronique Pingault |
| 1186-1200 | RAD51 | Antonis C. Antoniou, Olga M. Sinilnikova, Jacques Simard, Mélanie Léoné, Martine Dumont, Susan L. Neuhausen, Jeffery P. Struewing, Dominique Stoppa-Lyonnet, Laure Barjhoux, David J. Hughes, Isabelle Coupier, Muriel Belotti, Christine Lasset, Valérie Bonadona, Yves-Jean Bignon Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO), Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Susan M. Domchek, Katherine L. Nathanson, et al. | |
| 1201-1220 | Type 2 NF1 | Katharina Steinmann, David N. Cooper, Lan Kluwe, Nadia A. Chuzhanova, Cornelia Senger, Eduard Serra, Conxi Lazaro, Montserrat Gilaberte, Katharina Wimmer, Viktor-Felix Mautner, Hildegard Kehrer-Sawatzki |
| 1221-1231 | The Structure of Common Genetic Variation in United States Populations | Stephen L. Guthery, Benjamin A. Salisbury, Manish S. Pungliya, J. Claiborne Stephens, Michael Bamshad |
| 1232-1250 | High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, | Sonja C. Vernes, Elizabeth Spiteri, Jérôme Nicod, Matthias Groszer, Jennifer M. Taylor, Kay E. Davies, Daniel H. Geschwind, Simon E. Fisher |
| 1251-1261 | Multifactor Dimensionality Reduction–Phenomics: A Novel Method to Capture Genetic Heterogeneity with Use of Phenotypic Variables | H. Mei, M.L. Cuccaro, E.R. Martin |
| 1262-1270 | Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA | A. Rincón, C. Aguado, L.R. Desviat, R. Sánchez-Alcudia, M. Ugarte, B. Pérez |
| 1271-1277 | A Functional Polymorphism in COL11A1, | Futoshi Mio, Kazuhiro Chiba, Yuichiro Hirose, Yoshiharu Kawaguchi, Yasuo Mikami, Takeshi Oya, Masaki Mori, Michihiro Kamata, Morio Matsumoto, Kouichi Ozaki, Toshihiro Tanaka, Atsushi Takahashi, Toshikazu Kubo, Tomoatsu Kimura, Yoshiaki Toyama, Shiro Ikegawa |
| 1278-1283 | Pathway-Based Approaches for Analysis of Genomewide Association Studies | Kai Wang, Mingyao Li, Maja Bucan |
| 1284-1288 | Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases | Alexandra Zhernakova, Behrooz Z. Alizadeh, Marianna Bevova, Miek A. van Leeuwen, Marieke J.H. Coenen, Barbara Franke, Lude Franke, Marcel D. Posthumus, David A. van Heel, Gerrit van der Steege, Timothy R.D.J. Radstake, Pilar Barrera, Bart O. Roep, Bobby P.C. Koeleman, Cisca Wijmenga |
| 1289-1297 | Contribution of SHANK3 | Rainald Moessner, Christian R. Marshall, James S. Sutcliffe, Jennifer Skaug, Dalila Pinto, John Vincent, Lonnie Zwaigenbaum, Bridget Fernandez, Wendy Roberts, Peter Szatmari, Stephen W. Scherer |
| 1298-1303 | Common Single-Nucleotide Polymorphisms Act in Concert to Affect Plasma Levels of High-Density Lipoprotein Cholesterol | Victor Spirin, Steffen Schmidt, Alexander Pertsemlidis, Richard S. Cooper, Jonathan C. Cohen, Shamil R. Sunyaev |
| 1304-1315 | DNA Methylation Signatures within the Human Brain | Christine Ladd-Acosta, Jonathan Pevsner, Sarven Sabunciyan, Robert H. Yolken, Maree J. Webster, Tiffany Dinkins, Pauline A. Callinan, Jian-Bing Fan, James B. Potash, Andrew P. Feinberg |
| 1316-1320 | Editorial Reviewers for 2007 | |
| 1321-1323 | Announcements | |
| 1-2 | This Month in the Journal | Robin E. Williamson |
| 3-4 | This Month in Genetics | Kathryn B. Garber |
| 5-6 | Resuscitation and Evolution of a Classic | Reed E. Pyeritz |
| 7-9 | Unraveling Autism | Dietrich A. Stephan |
| 10-18 | Canine Behavioral Genetics: Pointing Out the Phenotypes and Herding up the Genes | Tyrone C. Spady, Elaine A. Ostrander |
| 19-31 | Biallelic Mutation of BEST1 | Rosemary Burgess, Ian D. Millar, Bart P. Leroy, Jill E. Urquhart, Ian M. Fearon, Elfrida De Baere, Peter D. Brown, Anthony G. Robson, Genevieve A. Wright, Philippe Kestelyn, Graham E. Holder, Andrew R. Webster, Forbes D.C. Manson, Graeme C.M. Black |
| 32-38 | C6ORF66 Is an Assembly Factor of Mitochondrial Complex I | Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg |
| 39-47 | SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 | Hannah Mandel, Revital Shemer, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher |
| 48-56 | A Statistical Method for Predicting Classical HLA Alleles from SNP Data | Stephen Leslie, Peter Donnelly, Gil McVean |
| 57-72 | Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture | Nabil Sabri Enattah, Tine G.K. Jensen, Mette Nielsen, Rikke Lewinski, Mikko Kuokkanen, Heli Rasinpera, Hatem El-Shanti, Jeong Kee Seo, Michael Alifrangis, Insaf F. Khalil, Abdrazak Natah, Ahmed Ali, Sirajedin Natah, David Comas, S. Qasim Mehdi, Leif Groop, Else Marie Vestergaard, Faiqa Imtiaz, Mohamed S. Rashed, Brian Meyer, et al. | |
| 73-80 | Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis | Ken Arita, Andrew P. South, Günter Hans-Filho, Thais Harumi Sakuma, Joey Lai-Cheong, Suzanne Clements, Maçanori Odashiro, Danilo Nakao Odashiro, Günter Hans-Neto, Nelise Ritter Hans, Maxine V. Holder, Balbir S. Bhogal, Sian T. Hartshorne, Masashi Akiyama, Hiroshi Shimizu, John A. McGrath |
| 81-87 | Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies | Michael A. Nalls, James G. Wilson, Nick J. Patterson, Arti Tandon, Joseph M. Zmuda, Scott Huntsman, Melissa Garcia, Donglei Hu, Rongling Li, Brock A. Beamer, Kushang V. Patel, Ermeg L. Akylbekova, Joe C. Files, Cheryl L. Hardy, Sarah G. Buxbaum, Herman A. Taylor, David Reich, Tamara B. Harris, Elad Ziv |
| 88-99 | An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1 | Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagner, Hanns Lochmüller, John B. Vincent, Stefan Quasthoff |
| 100-112 | Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms | Ivan P. Gorlov, Olga Y. Gorlova, Shamil R. Sunyaev, Margaret R. Spitz, Christopher I. Amos |
| 113-124 | Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells | Elodie Robert-Richard, François Moreau-Gaudry, Magalie Lalanne, Isabelle Lamrissi-Garcia, Muriel Cario-André, Véronique Guyonnet-Dupérat, Laurence Taine, Cécile Ged, Hubert de Verneuil |
| 125-138 | Mutations of ESRRB | Rob W.J. Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Zubair M. Ahmed, Refik Çaylan, Yun Li, Henk A. Spierenburg, Erol Eyupoglu, Angelien Heister, Saima Riazuddin, Elif Bahat, Muhammad Ansar, Selcuk Arslan, Bernd Wollnik, Han G. Brunner, et al. | |
| 139-149 | Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia | Chris Wallace, Stephen J. Newhouse, Peter Braund, Feng Zhang, Martin Tobin, Mario Falchi, Kourosh Ahmadi, Richard J. Dobson, Ana Carolina B. Marçano, Cother Hajat, Paul Burton, Panagiotis Deloukas, Morris Brown, John M. Connell, Anna Dominiczak, G. Mark Lathrop, John Webster The Wellcome Trust Case Control Consortium, Martin Farrall, Tim Spector, Nilesh J. Samani, et al. | |
| 150-159 | Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 | Maricela Alarcón, Brett S. Abrahams, Jennifer L. Stone, Jacqueline A. Duvall, Julia V. Perederiy, Jamee M. Bomar, Jonathan Sebat, Michael Wigler, Christa L. Martin, David H. Ledbetter, Stanley F. Nelson, Rita M. Cantor, Daniel H. Geschwind |
| 160-164 | A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 | Dan E. Arking, David J. Cutler, Camille W. Brune, Tanya M. Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin, Edwin H. Cook Jr., Aravinda Chakravarti |
| 165-173 | Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 | Betul Bakkaloglu, Brian J. O'Roak, Angeliki Louvi, Abha R. Gupta, Jesse F. Abelson, Thomas M. Morgan, Katarzyna Chawarska, Ami Klin, A. Gulhan Ercan-Sencicek, Althea A. Stillman, Gamze Tanriover, Brett S. Abrahams, Jackie A. Duvall, Elissa M. Robbins, Daniel H. Geschwind, Thomas Biederer, Murat Gunel, Richard P. Lifton, Matthew W. State |
| 174-180 | Mutations in KCNJ13 | J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V. Sergeev, Xiaoyan Ding, Anil K. Sharma, Chi-Chao Chan, Igor Medina, Albert O. Edwards |
| 181-187 | Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16 | Irina Balikova, Kevin Martens, Cindy Melotte, Mustapha Amyere, Steven Van Vooren, Yves Moreau, David Vetrie, Heike Fiegler, Nigel P. Carter, Thomas Liehr, Miikka Vikkula, Gert Matthijs, Jean-Pierre Fryns, Ingele Casteels, Koen Devriendt, Joris Robert Vermeesch |
| 188-193 | Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy | Juliane Ramser, Mary Ellen Ahearn, Claus Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, Lisa Baumbach-Reardon |
| 194-198 | Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians | Manfred Kayser, Oscar Lao, Kathrin Saar, Silke Brauer, Xingyu Wang, Peter Nürnberg, Ronald J. Trent, Mark Stoneking |
| 199-207 | Disruption of Neurexin 1 Associated with Autism Spectrum Disorder | Hyung-Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana J. Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen Braddock, Robin Troxell, Lee Kaplan, Fred Volkmar, Ami Klin, Katherine Tsatsanis, David J. Harris, Ilse Noens, et al. | |
| 208-213 | X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 | Catarina M. Quinzii, Tuan H. Vu, K. Christopher Min, Kurenai Tanji, Sandra Barral, Raji P. Grewal, Andrea Kattah, Pilir Camaño, David Otaegui, Teruhito Kunimatsu, David M. Blake, Kirk C. Wilhelmsen, Lewis P. Rowland, Arthur P. Hays, Eduardo Bonilla, Michio Hirano |
| 214-221 | 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome | Shay Ben-Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W. Cheung, James R. Lupski, Ankita Patel |
| 222-227 | Mutation Analysis of CHRNA1 | Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher |
| 228-235 | Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons | Amy K. Reeve, Kim J. Krishnan, Joanna L. Elson, Christopher M. Morris, Andreas Bender, Robert N. Lightowlers, Douglass M. Turnbull |
| 236-250 | Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context | Oleg Balanovsky, Siiri Rootsi, Andrey Pshenichnov, Toomas Kivisild, Michail Churnosov, Irina Evseeva, Elvira Pocheshkhova, Margarita Boldyreva, Nikolay Yankovsky, Elena Balanovska, Richard Villems |
| 251 | Allele-Specific Targeting of microRNAs to HLA-G | Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan, Julian Solway, James E. Gern, Robert F. Lemanske Jr., Dan Nicolae, Carole Ober |
| 251 | Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels | Christopher S. Carlson, Shelley Force Aldred, Philip K. Lee, Russell P. Tracy, Stephen M. Schwartz, Mark Rieder, Kiang Liu, O. Dale Williams, Carlos Iribarren, E. Cora Lewis, Myriam Fornage, Eric Boerwinkle, Myron Gross, Cashell Jaquish, Deborah A. Nickerson, Richard M. Myers, David S. Siscovick, Alexander P. Reiner |
| 252-255 | Announcements | |
| 257-258 | This Month in the Journal | Robin E. Williamson |
| 259-260 | This Month in Genetics | Kathryn B. Garber |
| 261-282 | Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution | Owen J. Marshall, Anderly C. Chueh, Lee H. Wong, K.H. Andy Choo |
| 283-289 | Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein | Gaofeng Wang, Joelle M. van der Walt, Gregory Mayhew, Yi-Ju Li, Stephan Züchner, William K. Scott, Eden R. Martin, Jeffery M. Vance |
| 290-303 | Estimating Local Ancestry in Admixed Populations | Sriram Sankararaman, Srinath Sridhar, Gad Kimmel, Eran Halperin |
| 304-319 | Mutations in BMP4 | Preeti Bakrania, Maria Efthymiou, Johannes C. Klein, Alison Salt, David J. Bunyan, Alex Wyatt, Chris P. Ponting, Angela Martin, Steven Williams, Victoria Lindley, Joanne Gilmore, Marie Restori, Anthony G. Robson, Magella M. Neveu, Graham E. Holder, J Richard O. Collin, David O. Robinson, Peter Farndon, Heidi Johansen-Berg, Dianne Gerrelli, et al. | |
| 320-332 | Gross Deletions Involving IGHM | Menno C. van Zelm, Corinne Geertsema, Nicole Nieuwenhuis, Dick de Ridder, Mary Ellen Conley, Claudine Schiff, Ilhan Tezcan, Ewa Bernatowska, Nico G. Hartwig, Elisabeth A.M. Sanders, Jiri Litzman, Irina Kondratenko, Jacques J.M. van Dongen, Mirjam van der Burg |
| 333-343 | Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood | Harsha Karur Rajasimha, Patrick F. Chinnery, David C. Samuels |
| 344-351 | Renal Aplasia in Humans Is Associated with RET | Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson, Alex J. Freemerman |
| 352-365 | A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification | Xiaofeng Zhu, Shengchao Li, Richard S. Cooper, Robert C. Elston |
| 366-374 | Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 | David W. Craig, Abraham Itty, Corrie Panganiban, Szabolcs Szelinger, Michael C. Kruer, Aswin Sekar, David Reiman, Vinodh Narayanan, Dietrich A. Stephan, John F. Kerrigan |
| 375-385 | Accommodating Linkage Disequilibrium in Genetic-Association Analyses via Ridge Regression | Nathalie Malo, Ondrej Libiger, Nicholas J. Schork |
| 386-397 | A Powerful and Flexible Multilocus Association Test for Quantitative Traits | Lydia Coulter Kwee, Dawei Liu, Xihong Lin, Debashis Ghosh, Michael P. Epstein |
| 398-410 | Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues | Erin L. Baldwin, Lorraine F. May, April N. Justice, Christa L. Martin, David H. Ledbetter |
| 411-423 | Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 | Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath, Diana Zelenika, Dominiek D.G. Despriet, Caroline C.W. Klaver, Johannes R. Vingerling, Paulus T.V.M. de Jong, Albert Hofman, Yurii S. Aulchenko, Andre G. Uitterlinden, et al. | |
| 424-431 | A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 | Richard A. Sturm, David L. Duffy, Zhen Zhen Zhao, Fabio P.N. Leite, Mitchell S. Stark, Nicholas K. Hayward, Nicholas G. Martin, Grant W. Montgomery |
| 432-443 | Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 | Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bokhoven, Hans-Hilger Ropers, Frederic Laumonnier, Enzo Ranieri, Charles E. Schwartz, Fatima Abidi, Patrick S. Tarpey, P. Andrew Futreal, et al. | |
| 444-452 | Simple and Efficient Analysis of Disease Association with Missing Genotype Data | D.Y. Lin, Y. Hu, B.E. Huang |
| 453-463 | On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants | Diana Luca, Steven Ringquist, Lambertus Klei, Ann B. Lee, Christian Gieger, H.-Erich Wichmann, Stefan Schreiber, Michael Krawczak, Ying Lu, Alexis Styche, Bernie Devlin, Kathryn Roeder, Massimo Trucco |
| 464-476 | Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders | Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, et al. | |
| 477-488 | Structural Variation of Chromosomes in Autism Spectrum Disorder | Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan Friedman, Cees E.J. Ketelaars, Yvonne J. Vos, Can Ficicioglu, Susan Kirkpatrick, Rob Nicolson, Leon Sloman, et al. | |
| 489-494 | FAM83H | Jung-Wook Kim, Sook-Kyung Lee, Zang Hee Lee, Joo-Cheol Park, Kyung-Eun Lee, Myoung-Hwa Lee, Jong-Tae Park, Byoung-Moo Seo, Jan C.-C. Hu, James P. Simmer |
| 495-500 | Warfarin Pharmacogenetics: CYP2C9 | Stuart A. Scott, Lisa Edelmann, Ruth Kornreich, Robert J. Desnick |
| 501-509 | TINF2 | Sharon A. Savage, Neelam Giri, Gabriela M. Baerlocher, Nick Orr, Peter M. Lansdorp, Blanche P. Alter |
| 510-515 | Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration | Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Michael A. Patton, Afif Hentati, Philippa J. Lamont, Teepu Siddique, Andrew H. Crosby |
| 516-523 | Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH | Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling, Sander B. Nabuurs, Ellen Blokland, Frans P.M. Cremers, Anneke I. den Hollander |
| 524-526 | Comment on a Simple and Improved Correction for Population Stratification | Seunggeun Lee, Patrick F. Sullivan, Fei Zou, Fred A. Wright |
| 526-528 | Response to Lee et al. | Michael P. Epstein, Andrew S. Allen, Glen A. Satten |
| 528-530 | XMCPDT Does Have Correct Type I Error Rates | Jie Ding, Shili Lin |
| 530-531 | Response to Ding and Lin | Ren-Hua Chung, Richard W. Morris, Eden R. Martin |
| 532 | Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies | Michael A. Nalls, James G. Wilson, Nick J. Patterson, Arti Tandon, Joseph M. Zmuda, Scott Huntsman, Melissa Garcia, Donglei Hu, Rongling Li, Brock A. Beamer, Kushang V. Patel, Ermeg L. Akylbekova, Joe C. Files, Cheryl L. Hardy, Sarah G. Buxbaum, Herman A. Taylor, David Reich, Tamara B. Harris, Elad Ziv |
| 533-534 | Course and Employment Opportunities | |
| 535-536 | This Month in the Journal | Robin E. Williamson |
| 537-538 | This Month in Genetics | Kathryn B. Garber |
| 539-566 | The Involvement of DNA-Damage and -Repair Defects in Neurological Dysfunction | Avanti Kulkarni, David M. Wilson III |
| 567-582 | Robust Score Statistics for QTL Linkage Analysis | Samsiddhi Bhattacharjee, Chia-Ling Kuo, Nandita Mukhopadhyay, Guy N. Brock, Daniel E. Weeks, Eleanor Feingold |
| 583-592 | Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas | Nelson J.R. Fagundes, Ricardo Kanitz, Roberta Eckert, Ana C.S. Valls, Mauricio R. Bogo, Francisco M. Salzano, David Glenn Smith, Wilson A. Silva Jr., Marco A. Zago, Andrea K. Ribeiro-dos-Santos, Sidney E.B. Santos, Maria Luiza Petzl-Erler, Sandro L. Bonatto |
| 593-599 | A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions | A. Cecile J.W. Janssens, Marta Gwinn, Linda A. Bradley, Ben A. Oostra, Cornelia M. van Duijn, Muin J. Khoury |
| 600-606 | Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation | Micha A. Haeuptle, François M. Pujol, Christine Neupert, Bryan Winchester, Alexander J. Kastaniotis, Markus Aebi, Thierry Hennet |
| 607-622 | Multipoint Approximations of Identity-by-Descent Probabilities for Accurate Linkage Analysis of Distantly Related Individuals | Cornelis A. Albers, Jim Stankovich, Russell Thomson, Melanie Bahlo, Hilbert J. Kappen |
| 623-630 | CABC1 | Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Munnich, Agnès Rötig |
| 631-640 | Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations | Wei Zhang, Shiwei Duan, Emily O. Kistner, Wasim K. Bleibel, R. Stephanie Huang, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, Nancy J. Cox, M. Eileen Dolan |
| 641-651 | Using the Optimal Receiver Operating Characteristic Curve to Design a Predictive Genetic Test, Exemplified with Type 2 Diabetes | Qing Lu, Robert C. Elston |
| 652-660 | Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance | Fanny Mochel, Melanie A. Knight, Wing-Hang Tong, Dena Hernandez, Karen Ayyad, Tanja Taivassalo, Peter M. Andersen, Andrew Singleton, Tracey A. Rouault, Kenneth H. Fischbeck, Ronald G. Haller |
| 661-672 | ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency | Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean-Louis Mandel, Mario H. Barros, et al. | |
| 673-684 | Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis | Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack, Jeremy D. Silver, Marina Katerelos, Danya F. Vears, Renate Lüllmann-Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M. Kalnins, John P. Dowling, Eva Andermann, Frederick Andermann, Enrico Faldini, Rudi D'Hooge, Lata Vadlamudi, Richard A. Macdonell, Bree L. Hodgson, Marta A. Bayly, et al. | |
| 685-695 | The Fine-Scale and Complex Architecture of Human Copy-Number Variation | George H. Perry, Amir Ben-Dor, Anya Tsalenko, Nick Sampas, Laia Rodriguez-Revenga, Charles W. Tran, Alicia Scheffer, Israel Steinfeld, Peter Tsang, N. Alice Yamada, Han Soo Park, Jong-Il Kim, Jeong-Sun Seo, Zohar Yakhini, Stephen Laderman, Laurakay Bruhn, Charles Lee |
| 696-711 | Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis | Jonathan Mill, Thomas Tang, Zachary Kaminsky, Tarang Khare, Simin Yazdanpanah, Luigi Bouchard, Peixin Jia, Abbas Assadzadeh, James Flanagan, Axel Schumacher, Sun-Chong Wang, Arturas Petronis |
| 712-722 | Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project | Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung-Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. Leach, et al. | |
| 723-736 | Identification of Susceptibility Genes for Cancer in a Genome-wide Scan: Results from the Colon Neoplasia Sibling Study | Denise Daley, Susan Lewis, Petra Platzer, Melissa MacMillen, Joseph Willis, Robert C. Elston, Sanford D. Markowitz, Georgia L. Wiesner |
| 737-743 | Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26 | Axel M. Hillmer, Antonia Flaquer, Sandra Hanneken, Sibylle Eigelshoven, Anne-Katrin Kortüm, Felix F. Brockschmidt, Astrid Golla, Christine Metzen, Holger Thiele, Susanne Kolberg, Roman Reinartz, Regina C. Betz, Thomas Ruzicka, Hans Christian Hennies, Roland Kruse, Markus M. Nöthen |
| 744-747 | Association of the Asporin D14 Allele with Lumbar-Disc Degeneration in Asians | You-Qiang Song, Kenneth M.C. Cheung, Daniel W.H. Ho, Sandy C.S. Poon, Kazuhiro Chiba, Yoshiharu Kawaguchi, Yuichiro Hirose, Mauro Alini, Sibylle Grad, Anita F.Y. Yee, John C.Y. Leong, Keith D.K. Luk, Shea-Ping Yip, Jaro Karppinen, Kathryn S.E. Cheah, Pak Sham, Shiro Ikegawa, Danny Chan |
| 748-755 | Estimating Ethnic Admixture from Pedigree Data | Janet S. Sinsheimer, Christopher L. Plaisier, Adriana Huertas-Vazquez, Carlos Aguilar-Salinas, Teresa Tusie-Luna, Päivi Pajukanta, Kenneth Lange |
| 756-762 | Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23 | Kate V. Everett, Barry A. Chioza, Christina Georgoula, Ashley Reece, Francesca Capon, Keith A. Parker, Cathy Cord-Udy, Paul McKeigue, Sally Mitton, Agostino Pierro, Prem Puri, Hannah M. Mitchison, Eddie M.K. Chung, R. Mark Gardiner |
| 763-771 | Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles | Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Desiree von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E. Christopher Partridge, Hemant Tiwari, David B. Allison, Jan Komorowski, Gert-Jan B. van Ommen, Dorret I. Boomsma, Nancy L. Pedersen, Johan T. den Dunnen, et al. | |
| 772-779 | Mutation of Solute Carrier SLC16A12 | Barbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger |
| 780-785 | Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease | Shirley Rainier, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, Rudy J. Richardson, James W. Albers, Nori Matsunami, Jeff Stevens, Hilary Coon, Mark Leppert, John K. Fink |
| 786-793 | Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia | Jacqueline T. Tan, Friederike Kremer, Susanna Freddi, Katrina M. Bell, Naomi L. Baker, Shireen R. Lamandé, John F. Bateman |
| 794-796 | Genetic Flip-Flop without an Accompanying Change in Linkage Disequilibrium | Dmitri V. Zaykin, Kyoko Shibata |
| 796-797 | Response to Zaykin and Shibata | Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin |
| 797-799 | Optimal Two-Stage Testing for Family-Based Genome-wide Association Studies | Stuart Macgregor |
| 799-800 | Response to Macgregor | Iuliana Ionita-Laza, Matthew B. McQueen, Scott Weiss, Nan M. Laird, Christoph Lange |
| 801 | Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 | Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath, Diana Zelenika, Dominiek D.G. Despriet, Caroline C.W. Klaver, Johannes R. Vingerling, Paulus T.V.M. de Jong, Albert Hofman, Yurii S. Aulchenko, Andre G. Uitterlinden, et al. | |
| 802-804 | Call for Patients, Calls for Research Proposals, and Employment Opportunities | |
| 805-806 | This Month in the Journal | Robin E. Williamson |
| 807-808 | This Month in Genetics | Kathryn B. Garber |
| 809-821 | Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 | Nancy D. Merner, Kathy A. Hodgkinson, Annika F.M. Haywood, Sean Connors, Vanessa M. French, Jörg-Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry-Lynn Young |
| 822-833 | Mutations in the GIGYF2 (TNRC15) | Corinne Lautier, Stefano Goldwurm, Alexandra Dürr, Barbara Giovannone, William G. Tsiaras, Gianni Pezzoli, Alexis Brice, Robert J. Smith |
| 834-848 | Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 | Yimin Hua, Timothy A. Vickers, Hazeem L. Okunola, C. Frank Bennett, Adrian R. Krainer |
| 849-858 | On the Replication of Genetic Associations: Timing Can Be Everything! | Jessica Lasky-Su, Helen N. Lyon, Valur Emilsson, Iris M. Heid, Cliona Molony, Benjamin A. Raby, Ross Lazarus, Barbara Klanderman, Manuel E. Soto-Quiros, Lydiana Avila, Edwin K. Silverman, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Florian Kronenberg, Caren Vollmert, Thomas Illig, Caroline S. Fox, Daniel Levy, Nan Laird, Xiao Ding, et al. | |
| 859-872 | Bayesian Meta-Analysis of Genetic Association Studies with Different Sets of Markers | Claudio Verzilli, Tina Shah, Juan P. Casas, Juliet Chapman, Manjinder Sandhu, Sally L. Debenham, Matthijs S. Boekholdt, Kay Tee Khaw, Nicholas J. Wareham, Richard Judson, Emelia J. Benjamin, Sekar Kathiresan, Martin G. Larson, Jian Rong, Reecha Sofat, Steve E. Humphries, Liam Smeeth, Gianpiero Cavalleri, John C. Whittaker, Aroon D. Hingorani |
| 873-882 | Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events | Pierre A. Zalloua, Yali Xue, Jade Khalife, Nadine Makhoul, Labib Debiane, Daniel E. Platt, Ajay K. Royyuru, Rene J. Herrera, David F. Soria Hernanz, Jason Blue-Smith, R. Spencer Wells, David Comas, Jaume Bertranpetit, Chris Tyler-Smith and The Genographic Consortium |
| 883-894 | Analysis of Genomic Admixture in Uyghur and Its Implication in Mapping Strategy | Shuhua Xu, Wei Huang, Ji Qian, Li Jin |
| 895-902 | A Bayesian Evaluation of Human Mitochondrial Substitution Rates | Phillip Endicott, Simon Y.W. Ho |
| 903-915 | SNP Arrays in Heterogeneous Tissue: Highly Accurate Collection of Both Germline and Somatic Genetic Information from Unpaired Single Tumor Samples | Guillaume Assié, Thomas LaFramboise, Petra Platzer, Jérôme Bertherat, Constantine A. Stratakis, Charis Eng |
| 916-926 | FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality | J.A. Fantes, E. Boland, J. Ramsay, D. Donnai, M. Splitt, J.A. Goodship, H. Stewart, M. Whiteford, P. Gautier, L. Harewood, S. Holloway, F. Sharkey, E. Maher, V. van Heyningen, J. Clayton-Smith, D.R. Fitzpatrick, G.C.M. Black |
| 927-936 | Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort | Julia Baptista, Catherine Mercer, Elena Prigmore, Susan M. Gribble, Nigel P. Carter, Viv Maloney, N. Simon Thomas, Patricia A. Jacobs, John A. Crolla |
| 937-948 | Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 | Antonis C. Antoniou, Amanda B. Spurdle, Olga M. Sinilnikova, Sue Healey, Karen A. Pooley, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Wera Hofmann, Christian Sutter, Dieter Niederacher, Helmut Deissler, Trinidad Caldes, Kati Kämpjärvi, Heli Nevanlinna, Jacques Simard, Jonathan Beesley, Xiaoqing Chen the Kathleen Cuningham Consortium for Research into Familial Breast Cancer, et al. | |
| 949-958 | Walking the Interactome for Prioritization of Candidate Disease Genes | Sebastian Köhler, Sebastian Bauer, Denise Horn, Peter N. Robinson |
| 959-970 | Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia | Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Jan Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kränzlin, Gudrun Nürnberg, Christian Becker, Tiemo Grimm, Gundula Girschick, Sally A. Lynch, Peter Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, et al. | |
| 971-981 | Mapping of Small RNAs in the Human ENCODE Regions | Christelle Borel, Maryline Gagnebin, Corinne Gehrig, Evgenia V. Kriventseva, Evgeny M. Zdobnov, Stylianos E. Antonarakis |
| 982-991 | A Mutation in HOXA2 | Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati, Mohammad Farhadi, Elliot Stollar, Thomas Somers, Guy Van Camp |
| 992-1002 | Identification of the SPG15 | Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin |
| 1003-1010 | SLC9A6 | Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins, et al. | |
| 1011-1018 | CC2D2A | Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub |
| 1019 | FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality | J.A. Fantes, E. Boland, J. Ramsay, D. Donnai, M. Splitt, J.A. Goodship, H. Stewart, M. Whiteford, P. Gautier, L. Harewood, S. Holloway, F. Sharkey, E. Maher, V. van Heyningen, J. Clayton-Smith, D.R. Fitzpatrick, G.C.M. Black |
| 1020-1022 | Employment Opportunities | |
| 1023-1024 | This Month in the Journal | Robin E. Williamson |
| 1025-1026 | This Month in Genetics | Kathryn B. Garber |
| 1027-1028 | Awards and Addresses Summary | |
| 1029-1031 | ASHG Presidential Address: Who Is under the Umbrella—and Why Are We Here? | Wylie Burke |
| 1032-1033 | Allan Award Introduction: Arthur L. Beaudet | James R. Lupski |
| 1034-1038 | Allan Award Lecture: Rare Patients Leading to Epigenetics and Back to Genetics | Arthur L. Beaudet |
| 1039-1050 | Linkage Disequilibrium between STRPs and SNPs across the Human Genome | Bret A. Payseur, Michael Place, James L. Weber |
| 1051-1063 | Consistently Replicating Locus Linked to Migraine on 10q22-q23 | Verneri Anttila, Dale R. Nyholt, Mikko Kallela, Ville Artto, Salli Vepsäläinen, Eveliina Jakkula, Annika Wennerström, Päivi Tikka-Kleemola, Mari A. Kaunisto, Eija Hämäläinen, Elisabeth Widén, Joseph Terwilliger, Kathleen Merikangas, Grant W. Montgomery, Nicholas G. Martin, Mark Daly, Jaakko Kaprio, Leena Peltonen, Markus Färkkilä, Maija Wessman, et al. | |
| 1064-1074 | Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach | Arpita Ghosh, Fei Zou, Fred A. Wright |
| 1075-1083 | Evidence for Natural Selection on Leukocyte Immunoglobulin-like Receptors for HLA Class I in Northeast Asians | Kouyuki Hirayasu, Jun Ohashi, Hidenori Tanaka, Koichi Kashiwase, Atsuko Ogawa, Minoko Takanashi, Masahiro Satake, Guan Jun Jia, Nyam-Osor Chimge, Elena W. Sideltseva, Katsushi Tokunaga, Toshio Yabe |
| 1084-1100 | Mitochondrial Genome Diversity in Arctic Siberians, with Particular Reference to the Evolutionary History of Beringia and Pleistocenic Peopling of the Americas | Natalia V. Volodko, Elena B. Starikovskaya, Ilya O. Mazunin, Nikolai P. Eltsov, Polina V. Naidenko, Douglas C. Wallace, Rem I. Sukernik |
| 1101-1113 | Genetic Architecture of Transcript-Level Variation in Humans | Shiwei Duan, R. Stephanie Huang, Wei Zhang, Wasim K. Bleibel, Cheryl A. Roe, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, Nancy J. Cox, M. Eileen Dolan |
| 1114-1121 | Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis | Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A. van Steensel, Peter M. Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalevand, Eli Sprecher |
| 1122-1129 | A Functional Polymorphism in THBS2 | Yuichiro Hirose, Kazuhiro Chiba, Tatsuki Karasugi, Masahiro Nakajima, Yoshiharu Kawaguchi, Yasuo Mikami, Tatsuya Furuichi, Futoshi Mio, Atsushi Miyake, Takeshi Miyamoto, Kouichi Ozaki, Atsushi Takahashi, Hiroshi Mizuta, Toshikazu Kubo, Tomoatsu Kimura, Toshihiro Tanaka, Yoshiaki Toyama, Shiro Ikegawa |
| 1130-1140 | The Dawn of Human Matrilineal Diversity | Doron M. Behar, Richard Villems, Himla Soodyall, Jason Blue-Smith, Luisa Pereira, Ene Metspalu, Rosaria Scozzari, Heeran Makkan, Shay Tzur, David Comas, Jaume Bertranpetit, Lluis Quintana-Murci, Chris Tyler-Smith, R. Spencer Wells, Saharon Rosset and The Genographic Consortium |
| 1141-1149 | Differential Expression of PTEN | Marcus G. Pezzolesi, Petra Platzer, Kristin A. Waite, Charis Eng |
| 1150-1157 | Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation | Florence Molinari, François Foulquier, Patrick S. Tarpey, Willy Morelle, Sarah Boissel, Jon Teague, Sarah Edkins, P. Andrew Futreal, Michael R. Stratton, Gillian Turner, Gert Matthijs, Jozef Gecz, Arnold Munnich, Laurence Colleaux |
| 1158-1164 | A Defect in the TUSC3 | Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana Kariminejad, Farkhondeh Behjati, Andreas Tzschach, Hossein Najmabadi, Hans Hilger Ropers, Andreas Walter Kuss |
| 1165-1170 | Truncation of the Down Syndrome Candidate Gene DYRK1A | Rikke S. Møller, Sabine Kübart, Maria Hoeltzenbein, Babett Heye, Ida Vogel, Christian P. Hansen, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer |
| 1171-1177 | TFAP2A | Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin |
| 1178-1184 | Mutation in the Human Homeobox Gene NKX5-3 | Daniel F. Schorderet, Olivia Nichini, Gaëlle Boisset, Bozena Polok, Leila Tiab, Hélène Mayeur, Bahija Raji, Gauillaume de la Houssaye, Marc M. Abitbol, Francis L. Munier |
| 1185-1192 | Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, | Paul M. Ridker, Guillaume Pare, Alex Parker, Robert Y.L. Zee, Jacqueline S. Danik, Julie E. Buring, David Kwiatkowski, Nancy R. Cook, Joseph P. Miletich, Daniel I. Chasman |
| 1193-1201 | Polymorphisms of the HNF1A | Alexander P. Reiner, Mathew J. Barber, Yongtao Guan, Paul M. Ridker, Leslie A. Lange, Daniel I. Chasman, Jeremy D. Walston, Gregory M. Cooper, Nancy S. Jenny, Mark J. Rieder, J. Peter Durda, Joshua D. Smith, John Novembre, Russell P. Tracy, Jerome I. Rotter, Matthew Stephens, Deborah A. Nickerson, Ronald M. Krauss |
| 1202-1210 | Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 | Alexandra Zhernakova, Eleanora M. Festen, Lude Franke, Gosia Trynka, Cleo C. van Diemen, Alienke J. Monsuur, Marianna Bevova, Rian M. Nijmeijer, Ruben van ‘t Slot, Roel Heijmans, H. Marike Boezen, David A. van Heel, Adriaan A. van Bodegraven, Pieter C.F. Stokkers, Cisca Wijmenga, J. Bart A. Crusius, Rinse K. Weersma |
| 1211-1216 | Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ | Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis, Gal Finer, Hanah Shalev, Ahmad Nasasra, Ann Saada, Ohad S. Birk |
| 1217-1222 | Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome | Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf, Elon Pras |
| 1223 | Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations | Wei Zhang, Shiwei Duan, Emily O. Kistner, Wasim K. Bleibel, R. Stephanie Huang, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, Nancy J. Cox, M. Eileen Dolan |
| 1224 | Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach | Arpita Ghosh, Fei Zou, Fred A. Wright |
| 1225-1226 | Employment Opportunities and Fellowship | |
| 1227-1228 | This Month in the Journal | Robin E. Williamson |
| 1229-1230 | This Month in Genetics | Kathryn B. Garber |
| 1231-1240 | Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis | Ana M. Valdes, John Loughlin, Kirsten M. Timms, Joyce J.B. van Meurs, Lorraine Southam, Scott G. Wilson, Sally Doherty, Rik J. Lories, Frank P. Luyten, Alexander Gutin, Victor Abkevich, Dongliang Ge, Albert Hofman, André G. Uitterlinden, Deborah J. Hart, Feng Zhang, Guangju Zhai, Rainer J. Egli, Michael Doherty, Jerry Lanchbury, et al. | |
| 1241-1248 | Two CES1 | Hao-Jie Zhu, Kennerly S. Patrick, Hong-Jie Yuan, Jun-Sheng Wang, Jennifer L. Donovan, C. Lindsay DeVane, Robert Malcolm, Julie A. Johnson, Geri L. Youngblood, Douglas H. Sweet, Taimour Y. Langaee, John S. Markowitz |
| 1249-1261 | Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 | Miyabi Tanaka, Richard W. Olsen, Marco T. Medina, Emily Schwartz, Maria Elisa Alonso, Reyna M. Duron, Ramon Castro-Ortega, Iris E. Martinez-Juarez, Ignacio Pascual-Castroviejo, Jesus Machado-Salas, Rene Silva, Julia N. Bailey, Dongsheng Bai, Adriana Ochoa, Aurelio Jara-Prado, Gregorio Pineda, Robert L. Macdonald, Antonio V. Delgado-Escueta |
| 1262-1269 | Identification of a Role for the ARHGEF3 | Ben H. Mullin, Richard L. Prince, Ian M. Dick, Deborah J. Hart, Tim D. Spector, Frank Dudbridge, Scott G. Wilson |
| 1270-1280 | Phosphodiesterase 8B | Lisette Arnaud-Lopez, Gianluca Usala, Graziano Ceresini, Braxton D. Mitchell, Maria Grazia Pilia, Maria Grazia Piras, Natascia Sestu, Andrea Maschio, Fabio Busonero, Giuseppe Albai, Mariano Dei, Sandra Lai, Antonella Mulas, Laura Crisponi, Toshiko Tanaka, Stefania Bandinelli, Jack M. Guralnik, Angela Loi, Lenuta Balaci, Gabriella Sole, et al. | |
| 1281-1289 | Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase | Valeria Massa, Erika Fernandez-Vizarra, Saad Alshahwan, Eman Bakhsh, Paola Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D'Adamo, Paolo Gasparini, Massimo Zeviani |
| 1290-1305 | Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 | Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann |
| 1306-1315 | NDUFA2 | Saskia J.G. Hoefs, Cindy E.J. Dieteren, Felix Distelmaier, Rolf J.R.J. Janssen, Andrea Epplen, Herman G.P. Swarts, Marleen Forkink, Richard J. Rodenburg, Leo G. Nijtmans, Peter H. Willems, Jan A.M. Smeitink, Lambert P. van den Heuvel |
| 1316-1333 | Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays | Lude Franke, Carolien G.F. de Kovel, Yurii S. Aulchenko, Gosia Trynka, Alexandra Zhernakova, Karen A. Hunt, Hylke M. Blauw, Leonard H. van den Berg, Roel Ophoff, Panagiotis Deloukas, David A. van Heel, Cisca Wijmenga |
| 1334-1341 | Mutations in the MESP2 | Alberto S. Cornier, Karen Staehling-Hampton, Kym M. Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E. Carlo, Jose Torres, John B. Emans, Peter D. Turnpenny, Olivier Pourquié |
| 1342-1348 | Transcription Factor FIGLA | Han Zhao, Zi-Jiang Chen, Yingying Qin, Yuhua Shi, Shan Wang, Youngsok Choi, Joe Leigh Simpson, Aleksandar Rajkovic |
| 1349-1356 | A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications | Veronica J. Vieland, Yungui Huang, Christopher Bartlett, Terry F. Davies, Yaron Tomer |
| 1357-1360 | Monozygotic Twins Reveal Germline Contribution to Allelic Expression Differences | Vivian G. Cheung, Alan Bruzel, Joshua T. Burdick, Michael Morley, James L. Devlin, Richard S. Spielman |
| 1361-1367 | Identification of CC2D2A | Jonna Tallila, Eveliina Jakkula, Leena Peltonen, Riitta Salonen, Marjo Kestilä |
| 1368-1374 | Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis | Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen Spranger, Bernhard Zabel, Andrea Superti-Furga |
| 1375-1384 | Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays | Seyedmehdi Shojaee, Farzad Sina, Setareh Sadat Banihosseini, Mohammad Hossein Kazemi, Reza Kalhor, Gholam-Ali Shahidi, Hossein Fakhrai-Rad, Mostafa Ronaghi, Elahe Elahi |
| 1385 | Disruption of Contactin 4 | Thomas Fernandez, Thomas Morgan, Nicole Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P. Lifton, Matthew W. State |
| 1386 | Employment Opportunities | |
| 1-2 | This Month in The Journal | Robin E. Williamson |
| 3-4 | This Month in Genetics | Kathryn B. Garber |
| 5-17 | Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability | Søren W. Gersting, Kristina F. Kemter, Michael Staudigl, Dunja D. Messing, Marta K. Danecka, Florian B. Lagler, Christian P. Sommerhoff, Adelbert A. Roscher, Ania C. Muntau |
| 18-29 | Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly | Erich Roessler, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W. Belmont, Jeffrey A. Towbin, Elizabeth Goldmuntz, Benjamin Feldman, Maximilian Muenke |
| 30-42 | Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy | Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel |
| 43-52 | Fragile X-Related Proteins Regulate Mammalian Circadian Behavioral Rhythms | Jing Zhang, Zhe Fang, Corinne Jud, Mariska J. Vansteensel, Krista Kaasik, Cheng Chi Lee, Urs Albrecht, Filippo Tamanini, Johanna H. Meijer, Ben A. Oostra, David L. Nelson |
| 53-63 | A Test for Genetic Association that Incorporates Information about Deviation from Hardy-Weinberg Proportions in Cases | Jian Wang, Sanjay Shete |
| 64-76 | Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A | Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani, Mario Abinun, Sara S. Kilic, Alessandra Pangrazio, Daniele Moratto, Evelina Mazzolari, Jill Clayton-Smith, Paul Orchard, Fraser P. Coxon, Miep H. Helfrich, Julie C. Crockett, David Mellis, Ashok Vellodi, Ilhan Tezcan, Luigi D. Notarangelo, Michael J. Rogers, Paolo Vezzoni, Anna Villa, et al. | |
| 77-88 | Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing | Marco Baralle, Tibor Pastor, Erica Bussani, Franco Pagani |
| 89-93 | FOXG1 | Francesca Ariani, Giuseppe Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri |
| 94-98 | Positive Selection in Alternatively Spliced Exons of Human Genes | Vasily E. Ramensky, Ramil N. Nurtdinov, Alexei D. Neverov, Andrei A. Mironov, Mikhail S. Gelfand |
| 99-105 | Neuropsychological Endophenotype Approach to Genome-wide Linkage Analysis Identifies Susceptibility Loci for ADHD on 2q21.1 and 13q12.11 | Nanda N.J. Rommelse, Alejandro Arias-Vásquez, Marieke E. Altink, Cathelijne J.M. Buschgens, Ellen Fliers, Philip Asherson, Stephen V. Faraone, Jan K. Buitelaar, Joseph A. Sergeant, Jaap Oosterlaan, Barbara Franke |
| 106-111 | Infantile Spasms Is Associated with Deletion of the MAGI2 | Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoglu, Sibel Berker-Karauzum, Patrick Edery, Holly H. Hobart, Carolyn B. Mervis, Orsetta Zuffardi, Alexandre Reymond, et al. | |
| 112-119 | Evaluating the Effects of Imputation on the Power, Coverage, and Cost Efficiency of Genome-wide SNP Platforms | Carl A. Anderson, Fredrik H. Pettersson, Jeffrey C. Barrett, Joanna J. Zhuang, Jiannis Ragoussis, Lon R. Cardon, Andrew P. Morris |
| 120-126 | Genotype-Specific Recurrence Risks as Indicators of the Genetic Architecture of Complex Diseases | Montgomery Slatkin |
| 127-128 | The Role of ZFYVE27/Protrudin in Hereditary Spastic Paraplegia | Monica Martignoni, Elena Riano, Elena I. Rugarli |
| 128-130 | Response to Martignoni et al. | Ashraf U. Mannan |
| 130 | Personalized Genetics: A Responsible Approach | Dietrich Stephan, David Agus, Michael Nierenberg, Elana Silver |
| 131 | Reply to Stephan et al. | A. Cecile J.W. Janssens, Marta Gwinn, Linda A. Bradley, Ben A. Oostra, Cornelia M. van Duijn, Muin J. Khoury |
| 132-135 | Long-Range LD Can Confound Genome Scans in Admixed Populations | Alkes L. Price, Michael E. Weale, Nick Patterson, Simon R. Myers, Anna C. Need, Kevin V. Shianna, Dongliang Ge, Jerome I. Rotter, Esther Torres, Kent D. Taylor, David B. Goldstein, David Reich |
| 135-139 | Response to Price et al. | Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodriguez-Cintron, Esteban Gonzalez Burchard, Neil J. Risch |
| 139-140 | East Asian and Melanesian Ancestry in Polynesians | Philip Hedrick |
| 140-142 | Reply to Hedrick | Manfred Kayser, Oscar Lao, Mark Stoneking |
| 142-146 | The Crucial Role of Calibration in Molecular Date Estimates for the Peopling of the Americas | Simon Y.W. Ho, Phillip Endicott |
| 146-147 | Reply to Ho and Endicott | Nelson J.R. Fagundes, Ricardo Kanitz, Sandro L. Bonatto |
| 148-149 | Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy | Marcelo Fernandes Costa, Andre Gustavo Fernandes Oliveira, Claudia Feitosa-Santana, Mayana Zatz, Dora Fix Ventura |
| 150-151 | Employment Opportunities | |
| 153-154 | This Month in The Journal | Robin E. Williamson |
| 155-156 | This Month in Genetics | Kathryn B. Garber |
| 157-169 | An Algorithm for Inferring Complex Haplotypes in a Region of Copy-Number Variation | Mamoru Kato, Yusuke Nakamura, Tatsuhiko Tsunoda |
| 170-179 | Mutations in the Cilia Gene ARL13B | Vincent Cantagrel, Jennifer L. Silhavy, Stephanie L. Bielas, Dominika Swistun, Sarah E. Marsh, Julien Y. Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al-Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian A. Glass, Clare V. Logan, Colin A. Johnson, et al. | |
| 180-192 | WW-Domain-Containing Oxidoreductase Is Associated with Low Plasma HDL-C Levels | Jenny C. Lee, Daphna Weissglas-Volkov, Mira Kyttälä, Zari Dastani, Rita M. Cantor, Eric M. Sobel, Christopher L. Plaisier, James C. Engert, Marleen M.J. van Greevenbroek, John P. Kane, Mary J. Malloy, Clive R. Pullinger, Adriana Huertas-Vazquez, Carlos A. Aguilar-Salinas, Teresa Tusie-Luna, Tjerk W.A. de Bruin, Bradley E. Aouizerat, Carla C.J. van der Kallen, Carlo M. Croce, Rami I. Aqeilan, et al. | |
| 193-199 | Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 | Ortal Barel, Stavit A. Shalev, Rivka Ofir, Asi Cohen, Joel Zlotogora, Zamir Shorer, Galia Mazor, Gal Finer, Shareef Khateeb, Noam Zilberberg, Ohad S. Birk |
| 200-207 | A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart | Kathleen S. Arnos, Katherine O. Welch, Mustafa Tekin, Virginia W. Norris, Susan H. Blanton, Arti Pandya, Walter E. Nance |
| 208-218 | Evolutionary Forces Shape the Human RFPL1,2,3 | Jérôme Bonnefont, Sergey I. Nikolaev, Anselme L. Perrier, Song Guo, Laetitia Cartier, Silvia Sorce, Térèse Laforge, Laetitia Aubry, Philipp Khaitovich, Marc Peschanski, Stylianos E. Antonarakis, Karl-Heinz Krause |
| 219-227 | HLA-DRB1*0401 | Steve Hoffmann, Sabine Cepok, Verena Grummel, Klaus Lehmann-Horn, Jörg Hackermueller, Peter F. Stadler, Hans-Peter Hartung, Achim Berthele, Florian Deisenhammer, Ralf Wasmuth, Bernhard Hemmer |
| 228-242 | Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family | Janet M. Young, RaeLynn M. Endicott, Sean S. Parghi, Megan Walker, Jeffrey M. Kidd, Barbara J. Trask |
| 243-253 | ATM | Denis A. Smirnov, Vivian G. Cheung |
| 254-260 | Pathogenic Mitochondrial DNA Mutations Are Common in the General Population | Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L. Relton, Patrick F. Chinnery |
| 261-268 | Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes | Ying Ni, Kevin M. Zbuk, Tammy Sadler, Attila Patocs, Glenn Lobo, Emily Edelman, Petra Platzer, Mohammed S. Orloff, Kristin A. Waite, Charis Eng |
| 269-277 | Class-Specific Correlations of Gene Expressions: Identification and Their Effects on Clustering Analyses | Jigang Zhang, Jian Li, Hongwen Deng |
| 278-292 | Impairment of SLC17A8 | Jérôme Ruel, Sarah Emery, Régis Nouvian, Tiphaine Bersot, Bénédicte Amilhon, Jana M. Van Rybroek, Guy Rebillard, Marc Lenoir, Michel Eybalin, Benjamin Delprat, Theru A. Sivakumaran, Bruno Giros, Salah El Mestikawy, Tobias Moser, Richard J.H. Smith, Marci M. Lesperance, Jean-Luc Puel |
| 293 | Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis | Pia Hermanns, Sheila Unger, Antonio Rossi, Antonio Perez-Aytes, Hector Cortina, Luisa Bonafé, Loredana Boccone, Valeria Setzu, Michel Dutoit, Luca Sangiorgi, Fabio Pecora, Kerstin Reicherter, Gen Nishimura, Jürgen Spranger, Bernhard Zabel, Andrea Superti-Furga |
| 294 | Neuropsychological Endophenotype Approach to Genome-wide Linkage Analysis Identifies Susceptibility Loci for ADHD on 2q21.1 and 13q12.11 | Nanda N.J. Rommelse, Alejandro Arias-Vásquez, Marieke E. Altink, Cathelijne J.M. Buschgens, Ellen Fliers, Philip Asherson, Stephen V. Faraone, Jan K. Buitelaar, Joseph A. Sergeant, Jaap Oosterlaan, Barbara Franke |
| 295-296 | Announcements | |
| 297-298 | This Month in The Journal | Robin E. Williamson |
| 299-300 | This Month in Genetics | Kathryn B. Garber |
| 301-303 | Victor Almon McKusick, MD, 1921–2008, In Memoriam | David Valle |
| 304-306 | The DNA Wars: Part I | Frederick R. Bieber |
| 307-310 | A Short History of the American Society of Human Genetics | Kurt Hirschhorn |
| 311-321 | Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data | Bingshan Li, Suzanne M. Leal |
| 322-336 | A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery | Shuhua Xu, Li Jin |
| 337-346 | Adaptive Evolution of UGT2B17 | Yali Xue, Donglin Sun, Allan Daly, Fengtang Yang, Xue Zhou, Mengyao Zhao, Ni Huang, Tatiana Zerjal, Charles Lee, Nigel P. Carter, Matthew E. Hurles, Chris Tyler-Smith |
| 347-358 | The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research | Matthew R. Nelson, Katarzyna Bryc, Karen S. King, Amit Indap, Adam R. Boyko, John Novembre, Linda P. Briley, Yuka Maruyama, Dawn M. Waterworth, Gérard Waeber, Peter Vollenweider, Jorge R. Oksenberg, Stephen L. Hauser, Heide A. Stirnadel, Jaspal S. Kooner, John C. Chambers, Brendan Jones, Vincent Mooser, Carlos D. Bustamante, Allen D. Roses, et al. | |
| 359-372 | Runs of Homozygosity in European Populations | Ruth McQuillan, Anne-Louise Leutenegger, Rehab Abdel-Rahman, Christopher S. Franklin, Marijana Pericic, Lovorka Barac-Lauc, Nina Smolej-Narancic, Branka Janicijevic, Ozren Polasek, Albert Tenesa, Andrew K. MacLeod, Susan M. Farrington, Pavao Rudan, Caroline Hayward, Veronique Vitart, Igor Rudan, Sarah H. Wild, Malcolm G. Dunlop, Alan F. Wright, Harry Campbell, et al. | |
| 373-387 | Optimized Allotopic Expression of the Human Mitochondrial ND4 | Sami Ellouze, Sébastien Augustin, Aicha Bouaita, Crystel Bonnet, Manuel Simonutti, Valérie Forster, Serge Picaud, Jose-Alain Sahel, Marisol Corral-Debrinski |
| 388-400 | DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome | Claudia Canzonetta, Claire Mulligan, Samuel Deutsch, Sandra Ruf, Aideen O'Doherty, Robert Lyle, Christelle Borel, Nathalie Lin-Marq, Frederic Delom, Jürgen Groet, Felix Schnappauf, Serena De Vita, Sharon Averill, John V. Priestley, Joanne E. Martin, Janet Shipley, Gareth Denyer, Charles J. Epstein, Cristina Fillat, Xavier Estivill, et al. | |
| 401-407 | Genome-wide SNP-Based Linkage Scan Identifies a Locus on 8q24 for an Age-Related Hearing Impairment Trait | Jeroen R. Huyghe, Lut Van Laer, Jan-Jaap Hendrickx, Erik Fransen, Kelly Demeester, Vedat Topsakal, Sylvia Kunst, Minna Manninen, Mona Jensen, Amanda Bonaconsa, Manuela Mazzoli, Manuela Baur, Samuli Hannula, Elina Mäki-Torkko, Angeles Espeso, Els Van Eyken, Antonia Flaquer, Christian Becker, Dafydd Stephens, Martti Sorri, et al. | |
| 408-414 | C-Terminal Deletions in the ALAS2 | Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, Alexander V. Anstey, Michelle Parker, Anne V. Corrigall, Peter N. Meissner, Richard J. Hift, Joanne T. Marsden, Yun Ma, Giorgina Mieli-Vergani, Jean-Charles Deybach, Hervé Puy |
| 415-423 | FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency | Daniele Ghezzi, Ann Saada, Pio D'Adamo, Erika Fernandez-Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani |
| 424 | A Mutation in HOXA2 | Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati, Mohammad Farhadi, Elliot Stollar, Thomas Somers, Guy Van Camp |
| 424 | A Bayesian Measure of the Probability of False Discovery in Molecular Genetic Epidemiology Studies | Jon Wakefield |
| 425-427 | Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project | Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung-Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. Leach, et al. | |
| 428-429 | Announcements | |
| 431-432 | This Month in The Journal | Robin E. Williamson |
| 433-434 | This Month in Genetics | Kathryn B. Garber |
| 435-444 | Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World | Susannah Baruch, Kathy Hudson |
| 445-456 | Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies | Yumi Yamaguchi-Kabata, Kazuyuki Nakazono, Atsushi Takahashi, Susumu Saito, Naoya Hosono, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani |
| 457-467 | A Combinatorial Approach to Detecting Gene-Gene and Gene-Environment Interactions in Family Studies | Xiang-Yang Lou, Guo-Bo Chen, Lei Yan, Jennie Z. Ma, Jamie E. Mangold, Jun Zhu, Robert C. Elston, Ming D. Li |
| 468-478 | Mutation of C20orf7 | Canny Sugiana, David J. Pagliarini, Matthew McKenzie, Denise M. Kirby, Renato Salemi, Khaled K. Abu-Amero, Hans-Henrik M. Dahl, Wendy M. Hutchison, Katherine A. Vascotto, Stacey M. Smith, Robert F. Newbold, John Christodoulou, Sarah Calvo, Vamsi K. Mootha, Michael T. Ryan, David R. Thorburn |
| 479-488 | Targeting Dyrk1A with AAVshRNA Attenuates Motor Alterations in TgDyrk1A, a Mouse Model of Down Syndrome | Jon Ortiz-Abalia, Ignasi Sahún, Xavier Altafaj, Núria Andreu, Xavier Estivill, Mara Dierssen, Cristina Fillat |
| 489-494 | Mutations in LPIN1 | Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg |
| 495-503 | A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene | Antti M. Salo, Helen Cox, Peter Farndon, Celia Moss, Helen Grindulis, Maija Risteli, Simon P. Robins, Raili Myllylä |
| 504-510 | Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients | Terry Vrijenhoek, Jacobine E. Buizer-Voskamp, Inge van der Stelt, Eric Strengman Genetic Risk and Outcome in Psychosis (GROUP) Consortium, Chiara Sabatti, Ad Geurts van Kessel, Han G. Brunner, Roel A. Ophoff, Joris A. Veltman |
| 511-519 | Mutations in CHD7 | Hyung-Goo Kim, Ingo Kurth, Fei Lan, Irene Meliciani, Wolfgang Wenzel, Soo Hyun Eom, Gil Bu Kang, Georg Rosenberger, Mustafa Tekin, Metin Ozata, David P. Bick, Richard J. Sherins, Steven L. Walker, Yang Shi, James F. Gusella, Lawrence C. Layman |
| 520-528 | Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes | Xin Yuan, Dawn Waterworth, John R.B. Perry, Noha Lim, Kijoung Song, John C. Chambers, Weihua Zhang, Peter Vollenweider, Heide Stirnadel, Toby Johnson, Sven Bergmann, Noam D. Beckmann, Yun Li, Luigi Ferrucci, David Melzer, Dena Hernandez, Andrew Singleton, James Scott, Paul Elliott, Gerard Waeber, et al. | |
| 529-534 | The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 | Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski |
| 535-539 | Comparing Algorithms for Genotype Imputation | Jonathan Marchini, Bryan Howie |
| 539-540 | Reply to Marchini and Howie | D.Y. Lin, Y. Hu |
| 541 | HLA-DRB1*0401 | Steve Hoffmann, Sabine Cepok, Verena Grummel, Klaus Lehmann-Horn, Jörg Hackermüller, Peter F. Stadler, Hans-Peter Hartung, Achim Berthele, Florian Deisenhammer, Ralf Wassmuth, Bernhard Hemmer |
| 542 | Announcements | |
| 543-544 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 545-546 | This Month in Genetics | Kathryn B. Garber |
| 547-558 | DNAI2 | Niki Tomas Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horvath, Manfred Fliegauf, Heiner Kuhl, Gyorgy Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O'Callaghan, Hannah Blau, Laszlo Tiszlavicz, Katarzyna Voelkel, Michal Witt, Ewa Ziętkiewicz, Juergen Neesen, Richard Reinhardt, et al. | |
| 559-571 | CC2D2A | Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Alswaid, Hamit Özyurek, Sel Dibooglu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael Dorschner, et al. | |
| 572-581 | A Homozygous Mutation in Human PRICKLE1 | Alexander G. Bassuk, Robyn H. Wallace, Aimee Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez-Alegre, Hilary L. Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Cirak, Thomas Voit, Matthew P. Scott, Jeffrey D. Axelrod, Christina Gurnett, et al. | |
| 582-593 | The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift | Passorn Wonnapinij, Patrick F. Chinnery, David C. Samuels |
| 594-603 | Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker | Rob W.J. Collin, Karin W. Littink, B. Jeroen Klevering, L. Ingeborgh van den Born, Robert K. Koenekoop, Marijke N. Zonneveld, Ellen A.W. Blokland, Tim M. Strom, Carel B. Hoyng, Anneke I. den Hollander, Frans P.M. Cremers |
| 604-609 | Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 | Eric A. Sherman, Kevin A. Strauss, Silvia Tortorelli, Michael J. Bennett, Ina Knerr, D. Holmes Morton, Erik G. Puffenberger |
| 610-615 | The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease | Peter N. Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos |
| 616-622 | Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 | Christina A. Gurnett, Farhang Alaee, Lisa M. Kruse, David M. Desruisseau, Jacqueline T. Hecht, Carol A. Wise, Anne M. Bowcock, Matthew B. Dobbs |
| 623-632 | Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE | Lars Bertram, Christoph Lange, Kristina Mullin, Michele Parkinson, Monica Hsiao, Meghan F. Hogan, Brit M.M. Schjeide, Basavaraj Hooli, Jason DiVito, Iuliana Ionita, Hongyu Jiang, Nan Laird, Thomas Moscarillo, Kari L. Ohlsen, Kathryn Elliott, Xin Wang, Diane Hu-Lince, Marie Ryder, Amy Murphy, Steven L. Wagner, et al. | |
| 633-642 | Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean | Pierre A. Zalloua, Daniel E. Platt, Mirvat El Sibai, Jade Khalife, Nadine Makhoul, Marc Haber, Yali Xue, Hassan Izaabel, Elena Bosch, Susan M. Adams, Eduardo Arroyo, Ana María López-Parra, Mercedes Aler, Antònia Picornell, Misericordia Ramon, Mark A. Jobling, David Comas, Jaume Bertranpetit, R. Spencer Wells, Chris Tyler-Smith and The Genographic Consortium |
| 643-648 | Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia | Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein, Ann Saada, Orly Elpeleg |
| 649-655 | TBX15 | Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti-Furga |
| 656 | CC2D2A | Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub |
| 657 | ATM | Denis A. Smirnov, Vivian G. Cheung |
| 658 | Runs of Homozygosity in European Populations | Ruth McQuillan, Anne-Louise Leutenegger, Rehab Abdel-Rahman, Christopher S. Franklin, Marijana Pericic, Lovorka Barac-Lauc, Nina Smolej-Narancic, Branka Janicijevic, Ozren Polasek, Albert Tenesa, Andrew K. MacLeod, Susan M. Farrington, Pavao Rudan, Caroline Hayward, Veronique Vitart, Igor Rudan, Sarah H. Wild, Malcolm G. Dunlop, Alan F. Wright, Harry Campbell, et al. | |
| 659-660 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 661-662 | This Month in Genetics | Kathryn B. Garber |
| 663-674 | Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17 | Tie-Lin Yang, Xiang-Ding Chen, Yan Guo, Shu-Feng Lei, Jin-Tang Wang, Qi Zhou, Feng Pan, Yuan Chen, Zhi-Xin Zhang, Shan-Shan Dong, Xiang-Hong Xu, Han Yan, Xiaogang Liu, Chuan Qiu, Xue-Zhen Zhu, Teng Chen, Meng Li, Hong Zhang, Liang Zhang, Betty M. Drees, et al. | |
| 675-683 | Association Mapping and Significance Estimation via the Coalescent | Gad Kimmel, Richard M. Karp, Michael I. Jordan, Eran Halperin |
| 684-691 | Mutations in C2orf37 | Anas M. Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S. Alkuraya |
| 692-702 | No Evidence for a Difference in Neuropsychological Profile among Carriers and Noncarriers of the FMR1 | Jessica Ezzell Hunter, Emily Graves Allen, Ann Abramowitz, Michele Rusin, Mary Leslie, Gloria Novak, Debra Hamilton, Lisa Shubeck, Krista Charen, Stephanie L. Sherman |
| 703-713 | Alterations in CDH15 | Kavita Bhalla, Yue Luo, Tim Buchan, Michael A. Beachem, Gregory F. Guzauskas, Sydney Ladd, Shelly J. Bratcher, Richard J. Schroer, Janne Balsamo, Barbara R. DuPont, Jack Lilien, Anand K. Srivastava |
| 714-724 | Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy | Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, Sandra T. Cooper, Biljana Ilkovski, Kristi J. Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C. Froehner, Kathryn N. North |
| 725-736 | The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula | Susan M. Adams, Elena Bosch, Patricia L. Balaresque, Stéphane J. Ballereau, Andrew C. Lee, Eduardo Arroyo, Ana M. López-Parra, Mercedes Aler, Marina S. Gisbert Grifo, Maria Brion, Angel Carracedo, João Lavinha, Begoña Martínez-Jarreta, Lluis Quintana-Murci, Antònia Picornell, Misericordia Ramon, Karl Skorecki, Doron M. Behar, Francesc Calafell, Mark A. Jobling |
| 737-743 | Divergence between Human Populations Estimated from Linkage Disequilibrium | John A. Sved, Allan F. McRae, Peter M. Visscher |
| 744-751 | Mutations in Glucose Transporter 9 Gene SLC2A9 | Hirotaka Matsuo, Toshinori Chiba, Shushi Nagamori, Akiyoshi Nakayama, Hideharu Domoto, Kanokporn Phetdee, Pattama Wiriyasermkul, Yuichi Kikuchi, Takashi Oda, Junichiro Nishiyama, Takahiro Nakamura, Yuji Morimoto, Keiko Kamakura, Yutaka Sakurai, Shigeaki Nonoyama, Yoshikatsu Kanai, Nariyoshi Shinomiya |
| 752-759 | A Missense Mutation in SLC33A1 | Pengfei Lin, Jianwei Li, Qiji Liu, Fei Mao, Jisheng Li, Rongfang Qiu, Huili Hu, Yang Song, Yang Yang, Guimin Gao, Chuanzhu Yan, Wanling Yang, Changshun Shao, Yaoqin Gong |
| 760-768 | Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation | Yanli Ji, A-Mei Zhang, Xiaoyun Jia, Ya-Ping Zhang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Hans-Jürgen Bandelt, Qingjiong Zhang, Yong-Gang Yao |
| 769-780 | Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients | Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Jan M. Zaucha, Bertil Glader, Charlotte Niemeyer, Joerg J. Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, et al. | |
| 781-786 | PTHR1 | Eva Decker, Angelika Stellzig-Eisenhauer, Britta S. Fiebig, Christiane Rau, Wolfram Kress, Kathrin Saar, Franz Rüschendorf, Norbert Hubner, Tiemo Grimm, Bernhard H.F. Weber |
| 787-794 | The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population | Eveliina Jakkula, Karola Rehnström, Teppo Varilo, Olli P.H. Pietiläinen, Tiina Paunio, Nancy L. Pedersen, Ulf deFaire, Marjo-Riitta Järvelin, Juha Saharinen, Nelson Freimer, Samuli Ripatti, Shaun Purcell, Andrew Collins, Mark J. Daly, Aarno Palotie, Leena Peltonen |
| 795 | Mutations in Glucose Transporter 9 Gene SLC2A9 | Hirotaka Matsuo, Toshinori Chiba, Shushi Nagamori, Akiyoshi Nakayama, Hideharu Domoto, Kanokporn Phetdee, Pattama Wiriyasermkul, Yuichi Kikuchi, Takashi Oda, Junichiro Nishiyama, Takahiro Nakamura, Yuji Morimoto, Keiko Kamakura, Yutaka Sakurai, Shigeaki Nonoyama, Yoshikatsu Kanai, Nariyoshi Shinomiya |
| 1-2 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 3-4 | This Month in Genetics | Kathryn B. Garber |
| 5-13 | Association of Genetic Variants at 3q22 with Nephropathy in Patients with Type 1 Diabetes Mellitus | Bing He, Anne-May Österholm, Anna Hoverfält, Carol Forsblom, Eyrún Edda Hjörleifsdóttir, Ann-Sofie Nilsson, Maikki Parkkonen, Janne Pitkäniemi, Ástrádur Hreidarsson, Cinzia Sarti, Amy Jayne McKnight, A. Peter Maxwell, Jaakko Tuomilehto, Per-Henrik Groop, Karl Tryggvason |
| 14-20 | Mutations of the SYCP3 | Hasbaira Bolor, Terumi Mori, Sachie Nishiyama, Yoshimasa Ito, Eriko Hosoba, Hidehito Inagaki, Hiroshi Kogo, Tamae Ohye, Makiko Tsutsumi, Takema Kato, Maoqing Tong, Haruki Nishizawa, Kanako Pryor-Koishi, Eri Kitaoka, Tomio Sawada, Yukio Nishiyama, Yasuhiro Udagawa, Hiroki Kurahashi |
| 21-34 | Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 | Pei-Lung Chen, Dimitrios Avramopoulos, Virginia K. Lasseter, John A. McGrath, M. Daniele Fallin, Kung-Yee Liang, Gerald Nestadt, Ningping Feng, Gary Steel, Andrew S. Cutting, Paula Wolyniec, Ann E. Pulver, David Valle |
| 35-43 | Genome-wide Association Study Implicates a Chromosome 12 Risk Locus for Late-Onset Alzheimer Disease | Gary W. Beecham, Eden R. Martin, Yi-Ju Li, Michael A. Slifer, John R. Gilbert, Jonathan L. Haines, Margaret A. Pericak-Vance |
| 44-51 | Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 | Derek E. Neilson, Mark D. Adams, Caitlin M.D. Orr, Deborah K. Schelling, Robert M. Eiben, Douglas S. Kerr, Jane Anderson, Alexander G. Bassuk, Ann M. Bye, Anne-Marie Childs, Antonia Clarke, Yanick J. Crow, Maja Di Rocco, Christian Dohna-Schwake, Gregor Dueckers, Alfonso E. Fasano, Artemis D. Gika, Dimitris Gionnis, Mark P. Gorman, Padraic J. Grattan-Smith, et al. | |
| 52-59 | Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer | Yongyu Wang, Phillip J. Kuan, Chao Xing, Jennifer T. Cronkhite, Fernando Torres, Randall L. Rosenblatt, J. Michael DiMaio, Lisa N. Kinch, Nick V. Grishin, Christine Kim Garcia |
| 60-65 | Variants in TF | Beben Benyamin, Allan F. McRae, Gu Zhu, Scott Gordon, Anjali K. Henders, Aarno Palotie, Leena Peltonen, Nicholas G. Martin, Grant W. Montgomery, John B. Whitfield, Peter M. Visscher |
| 66-71 | A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume | Christa Meisinger, Holger Prokisch, Christian Gieger, Nicole Soranzo, Divya Mehta, Dieter Rosskopf, Peter Lichtner, Norman Klopp, Jonathan Stephens, Nicholas A. Watkins, Panos Deloukas, Andreas Greinacher, Wolfgang Koenig, Matthias Nauck, Christian Rimmbach, Henry Völzke, Annette Peters, Thomas Illig, Willem H. Ouwehand, Thomas Meitinger, et al. | |
| 72-79 | A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan | Stuart W. Tompson, Barry Merriman, Vincent A. Funari, Maryline Fresquet, Ralph S. Lachman, David L. Rimoin, Stanley F. Nelson, Michael D. Briggs, Daniel H. Cohn, Deborah Krakow |
| 80-84 | Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications | Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild |
| 85-88 | Deleterious Variants of FIG4 | Clement Y. Chow, John E. Landers, Sarah K. Bergren, Peter C. Sapp, Adrienne E. Grant, Julie M. Jones, Lesley Everett, Guy M. Lenk, Diane M. McKenna-Yasek, Lois S. Weisman, Denise Figlewicz, Robert H. Brown, Miriam H. Meisler |
| 89-92 | Distribution of the Alcohol Dehydrogenase ADH1B*47His | Svetlana Borinskaya, Nina Kal'ina, Andrey Marusin, Gulnaz Faskhutdinova, Irina Morozova, Ildus Kutuev, Vladimir Koshechkin, Elza Khusnutdinova, Vadim Stepanov, Valery Puzyrev, Nick Yankovsky, Evgeny Rogaev |
| 92-94 | Low Allele Frequency of ADH1B*47His | Hui Li, Kenneth K. Kidd |
| 95 | Mutations in LPIN1 | Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg |
| 97-98 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 99-100 | This Month in Genetics | Kathryn B. Garber |
| 101-102 | Awards and Addresses Summary | |
| 103-104 | William Allan Award Introduction: Haig H. Kazazian, Jr. | Stylianos E. Antonarakis |
| 105-114 | Allan Award Lecture: On Jumping Fields and “Jumping Genes” | Haig H. Kazazian Jr. |
| 115-122 | Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci | Juan Manuel Rosa-Rosa, Guillermo Pita, Miguel Urioste, Gemma Llort, Joan Brunet, Conxi Lázaro, Ignacio Blanco, Teresa Ramón y Cajal, Orland Díez, Miguel de la Hoya, Trinidad Caldés, Maria-Isabel Tejada, Anna González-Neira, Javier Benítez |
| 123-133 | Common Variation in the β-Carotene 15,15′-Monooxygenase 1 Gene Affects Circulating Levels of Carotenoids: A Genome-wide Association Study | Luigi Ferrucci, John R.B. Perry, Amy Matteini, Markus Perola, Toshiko Tanaka, Kaisa Silander, Neil Rice, David Melzer, Anna Murray, Christie Cluett, Linda P. Fried, Demetrius Albanes, Anna-Maria Corsi, Antonio Cherubini, Jack Guralnik, Stefania Bandinelli, Andrew Singleton, Jarmo Virtamo, Jeremy Walston, Richard D. Semba, et al. | |
| 134-147 | A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems | Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred B. Martens, David A. Ramsay, C. Anthony Rupar, Victoria Siu, Robert A. Hegele |
| 148-161 | Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease | Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler |
| 162-177 | A Missense Mutation in CASK | Giulio Piluso, Francesca D'Amico, Valentina Saccone, Ettore Bismuto, Ida Luisa Rotundo, Marina Di Domenico, Stefania Aurino, Charles E. Schwartz, Giovanni Neri, Vincenzo Nigro |
| 178-187 | Searching for Genotype-Phenotype Structure: Using Hierarchical Log-Linear Models in Crohn Disease | Juliet M. Chapman, Clive M. Onnie, Natalie J. Prescott, Sheila A. Fisher, John C. Mansfield, Christopher G. Mathew, Cathryn M. Lewis, Claudio J. Verzilli, John C. Whittaker |
| 188-196 | Mutations in SPINT2 | Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, Melanie Schranz, Christian Becker, Franz Rüschendorf, Peter Nürnberg, Bernard Rossier, Mihailo Vujic, Ian W. Booth, Christer Holmberg, Cisca Wijmenga, Giedre Grigelioniene, C. M. Frank Kneepkens, Stefan Rosipal, Martin Mistrik, Matthias Kappler, Laurent Michaud, Ludwig-Christoph Dóczy, Victoria Mok Siu, et al. | |
| 197-209 | Mutations in Radial Spoke Head Protein Genes RSPH9 | Victoria H. Castleman, Leila Romio, Rahul Chodhari, Robert A. Hirst, Sandra C.P. de Castro, Keith A. Parker, Patricia Ybot-Gonzalez, Richard D. Emes, Stephen W. Wilson, Colin Wallis, Colin A. Johnson, Rene J. Herrera, Andrew Rutman, Mellisa Dixon, Amelia Shoemark, Andrew Bush, Claire Hogg, R. Mark Gardiner, Orit Reish, Nicholas D.E. Greene, et al. | |
| 210-223 | A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals | Brian L. Browning, Sharon R. Browning |
| 224-234 | A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs | Bryndis Yngvadottir, Yali Xue, Steve Searle, Sarah Hunt, Marcos Delgado, Jonathan Morrison, Pamela Whittaker, Panos Deloukas, Chris Tyler-Smith |
| 235-250 | Genotype-Imputation Accuracy across Worldwide Human Populations | Lucy Huang, Yun Li, Andrew B. Singleton, John A. Hardy, Gonçalo Abecasis, Noah A. Rosenberg, Paul Scheet |
| 251-258 | Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project | Jane Gitschier |
| 259-265 | Mutations in CNNM4 | Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet |
| 266-273 | Mutations in CNNM4 | David A. Parry, Alan J. Mighell, Walid El-Sayed, Roger C. Shore, Ismail K. Jalili, Hélène Dollfus, Agnes Bloch-Zupan, Roman Carlos, Ian M. Carr, Louise M. Downey, Katharine M. Blain, David C. Mansfield, Mehdi Shahrabi, Mansour Heidari, Parissa Aref, Mohsen Abbasi, Michel Michaelides, Anthony T. Moore, Jennifer Kirkham, Chris F. Inglehearn |
| 274-278 | A Homozygous Mutation in ADAMTSL4 | Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan Chen, Suzanne Leal, Mahmoud Al-Salem, Hatem El-Shanti |
| 279-285 | A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 | Julian E. Asher, Janine A. Lamb, Denise Brocklebank, Jean-Baptiste Cazier, Elena Maestrini, Laura Addis, Mallika Sen, Simon Baron-Cohen, Anthony P. Monaco |
| 286-290 | Mutations in STIL | Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton |
| 291-295 | Tail Strength to Combine Two p Values: Their Correlation Cannot Be Ignored | Yong Zang, Wing K. Fung, Gang Zheng |
| 295-298 | Is the Tail-Strength Measure More Powerful in Tests of Genetic Association? | Shizhong Han, Li Ma, Dawei Li, Bao-Zhu Yang |
| 298-300 | Response to Zang et al. and Han et al. | Jian Wang, Sanjay Shete |
| 301 | TFAP2A | Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin |
| 301 | A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis | Joshua Millstein, David V. Conti, Frank D. Gilliland, W. James Gauderman |
| 303-304 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 305-306 | This Month in Genetics | Kathryn B. Garber |
| 307-315 | Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia | Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn |
| 316-327 | Signatures of Purifying and Local Positive Selection in Human miRNAs | Hélène Quach, Luis B. Barreiro, Guillaume Laval, Nora Zidane, Etienne Patin, Kenneth K. Kidd, Judith R. Kidd, Christiane Bouchier, Michel Veuille, Christophe Antoniewski, Lluís Quintana-Murci |
| 328-338 | A Genome-wide Analysis Identifies Genetic Variants in the RELN | Isabelle Schrauwen, Megan Ealy, Matthew J. Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J. Corneveaux, David W. Craig, Mireille Claustres, Cor W.R.J. Cremers, Ingeborg Dhooge, Paul Van de Heyning, Robert Vincent, Erwin Offeciers, Richard J.H. Smith, Guy Van Camp |
| 339-350 | Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants | Martin F. Arlt, Jennifer G. Mulle, Valerie M. Schaibley, Ryan L. Ragland, Sandra G. Durkin, Stephen T. Warren, Thomas W. Glover |
| 351-366 | CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup | Simon C. Warby, Alexandre Montpetit, Anna R. Hayden, Jeffrey B. Carroll, Stefanie L. Butland, Henk Visscher, Jennifer A. Collins, Alicia Semaka, Thomas J. Hudson, Michael R. Hayden |
| 367-379 | Genome-wide Association Study of Smoking Initiation and Current Smoking | Jacqueline M. Vink, August B. Smit, Eco J.C. de Geus, Patrick Sullivan, Gonneke Willemsen, Jouke-Jan Hottenga, Johannes H. Smit, Witte J. Hoogendijk, Frans G. Zitman, Leena Peltonen, Jaakko Kaprio, Nancy L. Pedersen, Patrik K. Magnusson, Tim D. Spector, Kirsten Ohm Kyvik, Katherine I. Morley, Andrew C. Heath, Nicholas G. Martin, Rudi G.J. Westendorp, P. Eline Slagboom, et al. | |
| 380-387 | Mutations in SPATA7 | Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen |
| 388-398 | Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 | Dong-Hai Xiong, Xiao-Gang Liu, Yan-Fang Guo, Li-Jun Tan, Liang Wang, Bao-Yong Sha, Zi-Hui Tang, Feng Pan, Tie-Lin Yang, Xiang-Ding Chen, Shu-Feng Lei, Laura M. Yerges, Xue-Zen Zhu, Victor W. Wheeler, Alan L. Patrick, ClareAnn H. Bunker, Yan Guo, Han Yan, Yu-Fang Pei, Yin-Pin Zhang, et al. | |
| 399-405 | Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease | Kai Wang, Haitao Zhang, Subra Kugathasan, Vito Annese, Jonathan P. Bradfield, Richard K. Russell, Patrick M.A. Sleiman, Marcin Imielinski, Joseph Glessner, Cuiping Hou, David C. Wilson, Thomas Walters, Cecilia Kim, Edward C. Frackelton, Paolo Lionetti, Arrigo Barabino, Johan Van Limbergen, Stephen Guthery, Lee Denson, David Piccoli, et al. | |
| 406-411 | Mutations in BMP4 | Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper, Nobutomo Miwa, Anne Hing, Astanand Jugessur, Nagato Natsume, Kazuo Shimozato, Naofumi Ohbayashi, Yasushi Suzuki, Teruyuki Niimi, Katsuhiro Minami, Masahiko Yamamoto, Tserendorj J. Altannamar, Tudevdorj Erkhembaatar, Hiroo Furukawa, Sandra Daack-Hirsch, Jamie L'Heureux, Carla A. Brandon, Seth M. Weinberg, et al. | |
| 412-417 | Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 | Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg |
| 418-423 | Genome-wide Association and Replication Studies Identified TRHR | Xiao-Gang Liu, Li-Jun Tan, Shu-Feng Lei, Yong-Jun Liu, Hui Shen, Liang Wang, Han Yan, Yan-Fang Guo, Dong-Hai Xiong, Xiang-Ding Chen, Feng Pan, Tie-Lin Yang, Yin-Ping Zhang, Yan Guo, Nelson L. Tang, Xue-Zhen Zhu, Hong-Yi Deng, Shawn Levy, Robert R. Recker, Christopher J. Papasian, et al. | |
| 425-426 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 427-428 | This Month in Genetics | Kathryn B. Garber |
| 429-430 | Revisiting Race in a Genomic Age | Newton E. Morton |
| 431-444 | Association Test for X-Linked QTL in Family-Based Designs | Li Zhang, Eden R. Martin, Richard W. Morris, Yi-Ju Li |
| 445-458 | Genetic Control of Human Brain Transcript Expression in Alzheimer Disease | Jennifer A. Webster, J. Raphael Gibbs, Jennifer Clarke, Monika Ray, Weixiong Zhang, Peter Holmans, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem, Donald S. McCorquodale III, Cindy Cuello, Doris Leung, Leslie Bryden, Priti Nath, Victoria L. Zismann, Keta Joshipura, Matthew J. Huentelman, Diane Hu-Lince, Keith D. Coon, et al. | |
| 459-467 | IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response | Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño, Christian Weirich and, Karl-Heinz Grzeschik |
| 468-476 | Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 | Marielle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Connie R. Bezzina, Arthur A.M. Wilde |
| 477-482 | Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations | Toshiko Tanaka, Paul Scheet, Betti Giusti, Stefania Bandinelli, Maria Grazia Piras, Gianluca Usala, Sandra Lai, Antonella Mulas, Anna Maria Corsi, Anna Vestrini, Francesco Sofi, Anna Maria Gori, Rosanna Abbate, Jack Guralnik, Andrew Singleton, Goncalo R. Abecasis, David Schlessinger, Manuela Uda, Luigi Ferrucci |
| 483-492 | Duplications Involving a Conserved Regulatory Element Downstream of BMP2 | Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos |
| 493-498 | TMEM126A | Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre, Dominique Chretien, Nathalie Delphin, Lucas Fares-Taie, Sahran Lachheb, Agnès Rotig, Françoise Meire, Arnold Munnich, Jean-Louis Dufier, Josseline Kaplan, Jean-Michel Rozet |
| 499-504 | Genome-wide Linkage Screen in Familial Parkinson Disease Identifies Loci on Chromosomes 3 and 18 | Xiaoyi Gao, Eden R. Martin, Yutao Liu, Gregory Mayhew, Jeffery M. Vance, William K. Scott |
| 505-510 | Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein | Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C. Meyer, Luke L.H. Smith, Kimia Kahrizi, Hossein Najmabadi, Richard J.H. Smith |
| 511-518 | Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 | Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte, Peter Hedera, Kristy Crooks, Carsten Bergmann, Sabine Rudnik-Schöneborn, Klaus Zerres, Hanns Lochmüller, Eric Seboun, Joachim Weis, et al. | |
| 519-523 | Oligodontia Is Caused by Mutation in LTBP3 | Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija Orlic, Muhammad Arshad Rafiq, Mahwish Khalid, Mahmood Nasir Malik, Muhammad Ayub, Benjamin Alman, John B. Vincent |
| 524-533 | DECIPHER: D | Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter |
| 534-541 | Winter Temperature and UV Are Tightly Linked to Genetic Changes in the p53 Tumor Suppressor Pathway in Eastern Asia | Hong Shi, Si-jie Tan, Hua Zhong, Wenwei Hu, Arnold Levine, Chun-jie Xiao, Yi Peng, Xue-bin Qi, Wei-hua Shou, Run-lin Z. Ma, Yi Li, Bing Su, Xin Lu |
| 542-549 | Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome | Amy E. Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T. Sebald, Vincent A. Funari, Matthew J. Schibler, Marc H. Firestein, Zachary A. Cohn, Mary Ann Priore, Alicia K. Thompson, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn, Deborah Krakow |
| 550-551 | Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease | Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler |
| 553-554 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 555-556 | This Month in Genetics | Kathryn B. Garber |
| 557 | Genetic Effects on Environmental Vulnerability to Disease | Heather M. Ochs-Balcom |
| 558-566 | A Nonsense Mutation in COQ9 | Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, Shamima Rahman |
| 567-580 | Multilocus Bayesian Meta-Analysis of Gene-Disease Associations | Paul J. Newcombe, Claudio Verzilli, Juan P. Casas, Aroon D. Hingorani, Liam Smeeth, John C. Whittaker |
| 581-593 | Genome-wide Association Analysis Identifies PDE4D | Blanca E. Himes, Gary M. Hunninghake, James W. Baurley, Nicholas M. Rafaels, Patrick Sleiman, David P. Strachan, Jemma B. Wilk, Saffron A.G. Willis-Owen, Barbara Klanderman, Jessica Lasky-Su, Ross Lazarus, Amy J. Murphy, Manuel E. Soto-Quiros, Lydiana Avila, Terri Beaty, Rasika A. Mathias, Ingo Ruczinski, Kathleen C. Barnes, Juan C. Celedón, William O.C. Cookson, et al. | |
| 594-604 | The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency | Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, Elisa Fassone, Marco Tigano, Costanza Lamperti, Stefania Corti, Andreina Bordoni, Francesco Fortunato, Monica Nizzardo, Laura Napoli, Chiara Donadoni, Sabrina Salani, Francesca Saladino, Maurizio Moggio, Nereo Bresolin, Iliana Ferrero, Giacomo P. Comi |
| 605-616 | Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder | Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W. Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F. Lavin, Detlev Schindler, Thilo Dörk |
| 617-627 | Mutations in Smooth Muscle Alpha-Actin (ACTA2 | Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N. Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric A. Boerwinkle, Lorraine Q. Frazier, Scott A. LeMaire, Joseph S. Coselli, Anthony L. Estrera, et al. | |
| 628-640 | The Diversity Present in 5140 Human Mitochondrial Genomes | Luísa Pereira, Fernando Freitas, Verónica Fernandes, Joana B. Pereira, Marta D. Costa, Stephanie Costa, Valdemar Máximo, Vincent Macaulay, Ricardo Rocha, David C. Samuels |
| 641-650 | Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans | Shameek Biswas, Laura B. Scheinfeldt, Joshua M. Akey |
| 651-657 | Mutations of KCNJ10 | Tao Yang, Jose G. Gurrola II, Hao Wu, Sui M. Chiu, Philine Wangemann, Peter M. Snyder, Richard J.H. Smith |
| 658-663 | Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 | Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, Eugen J. Schoenle |
| 664-671 | Null Mutations in LTBP2 | Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, Payal Jain, S. Amer Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine Towns, Anna-Louise Murphy, Dimitar Azmanov, Ivailo Tournev, Sylvia Cherninkova, Hussain Jafri, Yasmin Raashid, Carmel Toomes, Jamie Craig, et al. | |
| 672-677 | Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation | Zhi-Qiang Wang, Lizhen Si, Quan Tang, Debao Lin, Zhangjie Fu, Jing Zhang, Bin Cui, Yufei Zhu, Xianghua Kong, Min Deng, Yu Xia, Heng Xu, Weidong Le, Landian Hu, Xiangyin Kong |
| 678-682 | Significant Linkage Evidence for a Predisposition Gene for Pelvic Floor Disorders on Chromosome 9q21 | Kristina Allen-Brady, Peggy A. Norton, James M. Farnham, Craig Teerlink, Lisa A. Cannon-Albright |
| 683-691 | Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice | David A. Parry, Carmel Toomes, Lina Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca Chance, Steven Swendeman, Lauren L. Daniele, Kelly Springell, Matthew Adams, Colin A. Johnson, Adam P. Booth, Hussain Jafri, Yasmin Rashid, Eyal Banin, et al. | |
| 692-697 | IFRD1 | Zoran Brkanac, David Spencer, Jay Shendure, Peggy D. Robertson, Mark Matsushita, Tiffany Vu, Thomas D. Bird, Maynard V. Olson, Wendy H. Raskind |
| 698-705 | Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 | Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie |
| 706-711 | DYNC2H1 | Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire |
| 712 | Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations | Toshiko Tanaka, Paul Scheet, Betti Giusti, Stefania Bandinelli, Maria Grazia Piras, Gianluca Usala, Sandra Lai, Antonella Mulas, Anna Maria Corsi, Anna Vestrini, Francesco Sofi, Anna Maria Gori, Rosanna Abbate, Jack Guralnik, Andrew Singleton, Goncalo R. Abecasis, David Schlessinger, Manuela Uda, Luigi Ferrucci |
| 713-714 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 715-716 | This Month in Genetics | Kathryn B. Garber |
| 717 | Fixing Sex: Intersex, Medical Authority, and Lived Experience | Claude J. Migeon |
| 718-727 | Mutations in NDUFAF3 | Ann Saada, Rutger O. Vogel, Saskia J. Hoefs, Mariël A. van den Brand, Hans J. Wessels, Peter H. Willems, Hanka Venselaar, Avraham Shaag, Flora Barghuti, Orit Reish, Mordechai Shohat, Martijn A. Huynen, Jan A.M. Smeitink, Lambert P. van den Heuvel, Leo G. Nijtmans |
| 728-739 | Mutation of a Gene Essential for Ribosome Biogenesis, EMG1 | Joy Armistead, Sunita Khatkar, Britta Meyer, Brian L. Mark, Nehal Patel, Gail Coghlan, Ryan E. Lamont, Shuangbo Liu, Jill Wiechert, Peter A. Cattini, Peter Koetter, Klaus Wrogemann, Cheryl R. Greenberg, Karl-Dieter Entian, Teresa Zelinski, Barbara Triggs-Raine |
| 740-759 | Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock | Pedro Soares, Luca Ermini, Noel Thomson, Maru Mormina, Teresa Rito, Arne Röhl, Antonio Salas, Stephen Oppenheimer, Vincent Macaulay, Martin B. Richards |
| 760-770 | Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6 | Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacques S. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafé |
| 771-779 | X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos | Ilse M. van den Berg, Joop S.E. Laven, Mary Stevens, Iris Jonkers, Robert-Jan Galjaard, Joost Gribnau, J. Hikke van Doorninck |
| 780-791 | Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 | Paweł Stankiewicz, Partha Sen, Samarth S. Bhatt, Mekayla Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan Bolivar, Mislen Bauer, Elaine H. Zackai, Donna McDonald-McGinn, Małgorzata M.J. Nowaczyk, Mitzi Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, et al. | |
| 792-800 | Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa | James S. Friedman, Joseph W. Ray, Naushin Waseem, Kory Johnson, Matthew J. Brooks, Therése Hugosson, Debra Breuer, Kari E. Branham, Daniel S. Krauth, Sara J. Bowne, Lori S. Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H. Trager, Linn M. Gieser, Dianna Hughbanks-Wheaton, Radu I. Cojocaru, Noor M. Ghiasvand, Christina F. Chakarova, et al. | |
| 801-806 | The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 | Dan Hanson, Philip G. Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti-Furga, Sue E. Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme C.M. Black, Peter E. Clayton |
| 807-813 | Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia | Miao Sun, Ning Li, Wu Dong, Zugen Chen, Qing Liu, Yiming Xu, Guang He, Yongyong Shi, Xin Li, Jiajie Hao, Yang Luo, Dandan Shang, Dan Lv, Fen Ma, Dai Zhang, Rui Hua, Chaoxia Lu, Yaran Wen, Lihua Cao, Alan D. Irvine, et al. | |
| 814-821 | Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians | Maria Pala, Alessandro Achilli, Anna Olivieri, Baharak Hooshiar Kashani, Ugo A. Perego, Daria Sanna, Ene Metspalu, Kristiina Tambets, Erika Tamm, Matteo Accetturo, Valeria Carossa, Hovirag Lancioni, Fausto Panara, Bettina Zimmermann, Gabriela Huber, Nadia Al-Zahery, Francesca Brisighelli, Scott R. Woodward, Paolo Francalacci, Walther Parson, et al. | |
| 822 | A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems | Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred B. Martens, David A. Ramsay, C. Anthony Rupar, Victoria Siu, Robert A. Hegele |
| 1-2 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 3-5 | This Month in Genetics | Kathryn B. Garber |
| 6-12 | Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public | Michael J. Dougherty |
| 13-24 | Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder | Peter Holmans, Elaine K. Green, Jaspreet Singh Pahwa, Manuel A.R. Ferreira, Shaun M. Purcell, Pamela Sklar The Wellcome Trust Case-Control Consortium, Michael J. Owen, Michael C. O'Donovan, Nick Craddock |
| 25-39 | Noncoding Mutations of HGF | Julie M. Schultz, Shaheen N. Khan, Zubair M. Ahmed, Saima Riazuddin, Ali M. Waryah, Dhananjay Chhatre, Matthew F. Starost, Barbara Ploplis, Stephanie Buckley, David Velásquez, Madhulika Kabra, Kwanghyuk Lee, Muhammad J. Hassan, Ghazanfar Ali, Muhammad Ansar, Manju Ghosh, Edward R. Wilcox, Wasim Ahmad, Glenn Merlino, Suzanne M. Leal, et al. | |
| 40-52 | Mutation in the AP4M1 | Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M. Bertoli-Avella, Maarten H. Lequin, Jeroen Dudink, Paul Govaert, A.L. van Zwol, Jennifer Hirst, Marja W. Wessels, Coriene Catsman-Berrevoets, Frans W. Verheijen, Esther de Graaff, Irenaeus F.M. de Coo, Johan M. Kros, Rob Willemsen, Patrick J. Willems, Peter J. van der Spek, et al. | |
| 53-63 | Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 | Xiao-lin Wu, Ming-min Gu, Lei Huang, Xue-song Liu, Hong-xin Zhang, Xiao-yi Ding, Jian-qiang Xu, Bin Cui, Long Wang, Shun-yuan Lu, Xiao-yi Chen, Hai-guo Zhang, Wei Huang, Wen-tao Yuan, Jiang-ming Yang, Qun Gu, Jian Fei, Zhu Chen, Zhi-min Yuan, Zhu-gang Wang |
| 64-75 | Diverse Evolutionary Histories for β-adrenoreceptor Genes in Humans | Rachele Cagliani, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Giacomo P. Comi, Federica Torri, Fabio Macciardi, Nereo Bresolin, Manuela Sironi |
| 76-86 | Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies | Dirk J. Lefeber, Johannes Schönberger, Eva Morava, Mailys Guillard, Karin M. Huyben, Kiek Verrijp, Olga Grafakou, Athanasios Evangeliou, Frank W. Preijers, Panagiota Manta, Jef Yildiz, Stephanie Grünewald, Martha Spilioti, Christa van den Elzen, Dominique Klein, Daniel Hess, Hisashi Ashida, Jan Hofsteenge, Yusuke Maeda, Lambert van den Heuvel, et al. | |
| 87-96 | PRKCA | Amy Murphy, Kelan G. Tantisira, Manuel E. Soto-Quirós, Lydiana Avila, Barbara J. Klanderman, Stephen Lake, Scott T. Weiss, Juan C. Celedón |
| 97-105 | WNT10A | Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia Haase, Kerstin Spree, Ute Hehr, Mandy Hoffmann, Susanne Ledig, Saadettin Sel, Peter Wieacker, Albrecht Röpke |
| 106-111 | Loss-of-Function Mutation in the Dioxygenase-Encoding FTO | Sarah Boissel, Orit Reish, Karine Proulx, Hiroko Kawagoe-Takaki, Barbara Sedgwick, Giles S.H. Yeo, David Meyre, Christelle Golzio, Florence Molinari, Noman Kadhom, Heather C. Etchevers, Vladimir Saudek, I. Sadaf Farooqi, Philippe Froguel, Tomas Lindahl, Stephen O'Rahilly, Arnold Munnich, Laurence Colleaux |
| 112-119 | Genome-wide Study of Families with Absolute Pitch Reveals Linkage to 8q24.21 and Locus Heterogeneity | Elizabeth Theusch, Analabha Basu, Jane Gitschier |
| 120-129 | Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 | Duane L. Guernsey, Haiyan Jiang, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Mathew Nightingale, Andrea L. Rideout, Sylvie Provost, Karen Bedard, Andrew Orr, Marie-Pierre Dubé, Mark Ludman, Mark E. Samuels |
| 130-134 | Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot | Zoë H. Rosser, Patricia Balaresque, Mark A. Jobling |
| 135-136 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 137-139 | This Month in Genetics | Kathryn B. Garber |
| 140-141 | The Ethics of Protocells—Moral and Social Implications of Creating Life in the Laboratory | Patrick L. Taylor |
| 142-154 | Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine | Tracy Tucker, Marco Marra, Jan M. Friedman |
| 155-167 | Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function | Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier, Evelyne Goillot, Karen Gaudon, Asma Ben Ammar, Annie Chaboud, Isabelle Grosjean, Heba-Aude Lecuyer, Véronique Bernard, Andrée Rouche, Nektaria Alexandri, Thierry Kuntzer, Michel Fardeau, Emmanuel Fournier, Andrea Brancaccio, Markus A. Rüegg, Jeanine Koenig, Bruno Eymard, et al. | |
| 168-178 | Mutations in MMP9 | Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel |
| 179-193 | Skewed X Chromosome Inactivation and Trisomic Spontaneous Abortion: No Association | Dorothy Warburton, Jennie Kline, Ann Kinney, Chih-yu Yu, Bruce Levin, Stephen Brown |
| 194-203 | Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3 | Ka-Po Tse, Wen-Hui Su, Kai-Ping Chang, Ngan-Ming Tsang, Chia-Jung Yu, Petrus Tang, Lee-Chu See, Chuen Hsueh, Min-Lee Yang, Sheng-Po Hao, Hong-Yi Li, Ming-Hsi Wang, Li-Ping Liao, Lih-Chyang Chen, Sheue-Rong Lin, Timothy J. Jorgensen, Yu-Sun Chang, Yin Yao Shugart |
| 204-213 | Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure | Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vylet'al, Marie Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, Jan Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean-Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, et al. | |
| 214-227 | A Genome-wide In Vitro Bacterial-Infection Screen Reveals Human Variation in the Host Response Associated with Inflammatory Disease | Dennis C. Ko, Kajal P. Shukla, Christine Fong, Michael Wasnick, Mitchell J. Brittnacher, Mark M. Wurfel, Tarah D. Holden, Grant E. O'Keefe, Brian Van Yserloo, Joshua M. Akey, Samuel I. Miller |
| 228-239 | X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women | Roman A. Siddiqui, Ulrike Sauermann, Janine Altmüller, Elfriede Fritzer, Michael Nothnagel, Nina Dalibor, Jacques Fellay, Franz-Josef Kaup, Christiane Stahl-Hennig, Peter Nürnberg, Michael Krawczak, Matthias Platzer |
| 240-247 | Homozygosity Mapping Reveals PDE6C | Alberta A.H.J. Thiadens, Anneke I. den Hollander, Susanne Roosing, Sander B. Nabuurs, Renate C. Zekveld-Vroon, Rob W.J. Collin, Elfride De Baere, Robert K. Koenekoop, Mary J. van Schooneveld, Tim M. Strom, Janneke J.C. van Lith-Verhoeven, Andrew J. Lotery, Norka van Moll-Ramirez, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Frans P.M. Cremers, Caroline C.W. Klaver |
| 248-253 | Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome | Joakim Klar, Martina Schweiger, Robert Zimmerman, Rudolf Zechner, Hao Li, Hans Törmä, Anders Vahlquist, Bakar Bouadjar, Niklas Dahl, Judith Fischer |
| 254-263 | RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome | Lina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs-Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak-Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Reuven Bergman, Mia Horowitz, Akemi Ishida-Yamamoto, et al. | |
| 264-272 | CMIP | Dianne F. Newbury, Laura Winchester, Laura Addis, Silvia Paracchini, Lyn-Louise Buckingham, Ann Clark, Wendy Cohen, Hilary Cowie, Katharina Dworzynski, Andrea Everitt, Ian M. Goodyer, Elizabeth Hennessy, A. David Kindley, Laura L. Miller, Jamal Nasir, Anne O'Hare, Duncan Shaw, Zoe Simkin, Emily Simonoff, Vicky Slonims, et al. | |
| 273-280 | Molecular Basis of DFNB73: Mutations of BSND | Saima Riazuddin, Saima Anwar, Martin Fischer, Zubair M. Ahmed, Shahid Y. Khan, Audrey G.H. Janssen, Ahmad U. Zafar, Ute Scholl, Tayyab Husnain, Inna A. Belyantseva, Penelope L. Friedman, Sheikh Riazuddin, Thomas B. Friedman, Christoph Fahlke |
| 281-289 | Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 | Paul Renbaum, Efrat Kellerman, Ranit Jaron, Dan Geiger, Reeval Segel, Ming Lee, Mary Claire King, Ephrat Levy-Lahad |
| 290-295 | A Heterozygous Truncating Mutation in RRM2B | Henna Tyynismaa, Emil Ylikallio, Mehul Patel, Maria J. Molnar, Ronald G. Haller, Anu Suomalainen |
| 296-301 | IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice | Vinicia Assunta Polito, Maria Pia Cosma |
| 302 | PRKCA | Amy Murphy, Kelan G. Tantisira, Manuel E. Soto-Quirós, Lydiana Avila, Barbara J. Klanderman, Stephen Lake, Scott T. Weiss, Juan C. Celedón |
| 303-304 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 305-307 | This Month in Genetics | Kathryn B. Garber |
| 308 | Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine | Shawn E. McCandless |
| 309-320 | Epistasis and Its Implications for Personal Genetics | Jason H. Moore, Scott M. Williams |
| 321-327 | The Editors' Recollections on the Occasion of the 60th Anniversary of The American Journal of Human Genetics | |
| 328-337 | Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans | Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller |
| 338-353 | Mutations of the FHL1 | Lucie Gueneau, Anne T. Bertrand, Jean-Philippe Jais, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacene, Norma B. Romero, Simon Heath, Diana Zelenika, Thomas Voit, Bruno Eymard, Rabah Ben Yaou, Gisèle Bonne |
| 354-363 | Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism | Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso, Jutta Gärtner |
| 364-376 | A Generalized Family-Based Association Test for Dichotomous Traits | Wei-Min Chen, Ani Manichaikul, Stephen S. Rich |
| 377-393 | Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 | Dominique J. Verlaan, Soizik Berlivet, Gary M. Hunninghake, Anne-Marie Madore, Mathieu Larivière, Sanny Moussette, Elin Grundberg, Tony Kwan, Manon Ouimet, Bing Ge, Rose Hoberman, Marcin Swiatek, Joana Dias, Kevin C.L. Lam, Vonda Koka, Eef Harmsen, Manuel Soto-Quiros, Lydiana Avila, Juan C. Celedón, Scott T. Weiss, et al. | |
| 394-400 | Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females | Roberto Giorda, M. Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Di Benedetto, Sebastiano A. Musumeci, Girolamo A. Vitello, Pinella Failla, Santina Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, et al. | |
| 401-407 | Acute Infantile Liver Failure Due to Mutations in the TRMU | Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpeleg |
| 408-413 | A Positive Modifier of Spinal Muscular Atrophy in the SMN2 | Thomas W. Prior, Adrian R. Krainer, Yimin Hua, Kathryn J. Swoboda, Pamela C. Snyder, Scott J. Bridgeman, Arthur H.M. Burghes, John T. Kissel |
| 414-418 | FREM1 | Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya |
| 419 | Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females | Roberto Giorda, M. Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Di Benedetto, Sebastiano A. Musumeci, Girolamo A. Vitello, Pinella Failla, Santina Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, et al. | |
| 420 | Mutations in MMP9 | Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel |
| 421-422 | This Month in The Journal | Robin E. Williamson |
| 423-425 | This Month in Genetics | Kathryn B. Garber |
| 426 | Ethics and Newborn Genetic Screening: New Technologies, New Challenges | Fiona Alice Miller |
| 427-446 | Rare, Evolutionarily Unlikely Missense Substitutions in ATM | Sean V. Tavtigian, Peter J. Oefner, Davit Babikyan, Anne Hartmann, Sue Healey, Florence Le Calvez-Kelm, Fabienne Lesueur, Graham B. Byrnes, Shu-Chun Chuang, Nathalie Forey, Corinna Feuchtinger, Lydie Gioia, Janet Hall, Mia Hashibe, Barbara Herte, Sandrine McKay-Chopin, Alun Thomas, Maxime P. Vallée, Catherine Voegele, Penelope M. Webb, et al. | |
| 447-456 | Heterozygous NTF4 | Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin, Heinrich Sticht, Johann H. Brandstätter, Karin Michels-Rautenstrauss, Nicole Weisschuh, Eugen Gramer, Wishal D. Ramdas, Leonieke M.E. van Koolwijk, Caroline C.W. Klaver, Johannes R. Vingerling, Bernhard H.F. Weber, Friedrich E. Kruse, Bernd Rautenstrauss, Yves-Alain Barde, André Reis |
| 457-464 | Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies | Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E. Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson |
| 465-481 | OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5 | Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer |
| 482-492 | Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11 | Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauß, Brigitte Kasper, Gudrun Nürnberg, Christian Becker, Andrea Maul-Pavicic, Karin Beutel, Gritta Janka, Gillian Griffiths, Stephan Ehl, Hans Christian Hennies |
| 493-502 | Integration of Genomic and Genetic Approaches Implicates IREB2 | Dawn L. DeMeo, Thomas Mariani, Soumyaroop Bhattacharya, Sorachai Srisuma, Christoph Lange, Augusto Litonjua, Raphael Bueno, Sreekumar G. Pillai, David A. Lomas, David Sparrow, Steven D. Shapiro, Gerard J. Criner, Hong P. Kim, Zhihua Chen, Augustine M.K. Choi, John Reilly, Edwin K. Silverman |
| 503-514 | Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 | Bradford Coffee, Krayton Keith, Igor Albizua, Tamika Malone, Julie Mowrey, Stephanie L. Sherman, Stephen T.Warren |
| 515-520 | A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3 | Muhammad Ayub, Sulman Basit, Musharraf Jelani, Fazal Ur Rehman, Muhammad Iqbal, Masoom Yasinzai, Wasim Ahmad |
| 521-527 | PPIB | Fleur S. van Dijk, Isabel M. Nesbitt, Eline H. Zwikstra, Peter G.J. Nikkels, Sander R. Piersma, Silvina A. Fratantoni, Connie R. Jimenez, Margriet Huizer, Alice C. Morsman, Jan M. Cobben, Mirjam H.H. van Roij, Mariet W. Elting, Jonathan I.M.L. Verbeke, Liliane C.D. Wijnaendts, Nick J. Shaw, Wolfgang Högler, Carole McKeown, Erik A. Sistermans, Ann Dalton, Hanne Meijers-Heijboer, et al. | |
| 528-535 | A Common Variation in EDAR | Ryosuke Kimura, Tetsutaro Yamaguchi, Mayako Takeda, Osamu Kondo, Takashi Toma, Kuniaki Haneji, Tsunehiko Hanihara, Hirotaka Matsukusa, Shoji Kawamura, Koutaro Maki, Motoki Osawa, Hajime Ishida, Hiroki Oota |
| 536 | Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function | Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier, Evelyne Goillot, Karen Gaudon, Asma Ben Ammar, Annie Chaboud, Isabelle Grosjean, Heba-Aude Lecuyer, Véronique Bernard, Andrée Rouche, Nektaria Alexandri, Thierry Kuntzer, Michel Fardeau, Emmanuel Fournier, Andrea Brancaccio, Markus A. Rüegg, Jeanine Koenig, Bruno Eymard, et al. | |
| 537 | Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 | Pawel Stankiewicz, Partha Sen, Samarth S. Bhatt, Mekayla Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan Bolivar, Mislen Bauer, Elaine H. Zackai, Donna McDonald-McGinn, Malgorzata M.J. Nowaczyk, Mitzi Murray, Virginia Hustead, Kristin Mascotti, Regina Schultz, Lavinia Hallam, et al. | |
| 539-540 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 541-543 | This Month in Genetics | Kathryn B. Garber |
| 544-557 | Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n | Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M. Flanigan, Sawa Iwasaki, Fumitoshi Ishino, Yuko Saito, Shigeo Murayama, Mari Yoshida, Yoshio Hashizume, Yuji Takahashi, Shoji Tsuji, Nobuyoshi Shimizu, Tatsushi Toda, Kinya Ishikawa, et al. | |
| 558-568 | Homozygous Mutations in ADAMTS10 | Jose Morales, Latifa Al-Sharif, Dania S. Khalil, Jameela M.A. Shinwari, Prashant Bavi, Rahima A. Al-Mahrouqi, Ali Al-Rajhi, Fowzan S. Alkuraya, Brian F. Meyer, Nada Al Tassan |
| 569-580 | Use of a Modified α-N | Youichi Tajima, Ikuo Kawashima, Takahiro Tsukimura, Kanako Sugawara, Mayuko Kuroda, Toshihiro Suzuki, Tadayasu Togawa, Yasunori Chiba, Yoshifumi Jigami, Kazuki Ohno, Tomoko Fukushige, Takuro Kanekura, Kohji Itoh, Toya Ohashi, Hitoshi Sakuraba |
| 581-592 | Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa | Alice E. Davidson, Ian D. Millar, Jill E. Urquhart, Rosemary Burgess-Mullan, Yusrah Shweikh, Neil Parry, James O'Sullivan, Geoffrey J. Maher, Martin McKibbin, Susan M. Downes, Andrew J. Lotery, Samuel G. Jacobson, Peter D. Brown, Graeme C.M. Black, Forbes D.C. Manson |
| 593-605 | Mutations in LTBP4 | Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W. Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis |
| 606-616 | A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 | Anja Naumann, Norbert Hochstein, Stefanie Weber, Ellen Fanning, Walter Doerfler |
| 617-627 | Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200 | Chen Zhao, Deepti L. Bellur, Shasha Lu, Feng Zhao, Michael A. Grassi, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Li Jia Chen, Chi Pui Pang, Kanxing Zhao, Jonathan P. Staley, Catharina Larsson |
| 628-642 | Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip | Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, et al. | |
| 643-654 | Public Opinion about the Importance of Privacy in Biobank Research | David J. Kaufman, Juli Murphy-Bollinger, Joan Scott, Kathy L. Hudson |
| 655-666 | CNTNAP2 | Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian B. Ousager, Amanda L. Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch |
| 667-678 | ATRIUM: Testing Untyped SNPs in Case-Control Association Studies with Related Individuals | Zuoheng Wang, Mary Sara McPeek |
| 679-691 | A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma | Maria Teresa Landi, Nilanjan Chatterjee, Kai Yu, Lynn R. Goldin, Alisa M. Goldstein, Melissa Rotunno, Lisa Mirabello, Kevin Jacobs, William Wheeler, Meredith Yeager, Andrew W. Bergen, Qizhai Li, Dario Consonni, Angela C. Pesatori, Sholom Wacholder, Michael Thun, Ryan Diver, Martin Oken, Jarmo Virtamo, Demetrius Albanes, et al. | |
| 692-698 | The Relationship between Imputation Error and Statistical Power in Genetic Association Studies in Diverse Populations | Lucy Huang, Chaolong Wang, Noah A. Rosenberg |
| 699-705 | Mutations in the Beta Propeller WDR72 | Walid El-Sayed, David A. Parry, Roger C. Shore, Mushtaq Ahmed, Hussain Jafri, Yasmin Rashid, Suhaila Al-Bahlani, Sharifa Al Harasi, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell |
| 706-710 | Identification of CANT1 | Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti-Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Munnich, et al. | |
| 711-719 | Recessive Mutations of the Gene TRPM1 | Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides, Donna S. Mackay, Genevieve A. Wright, Sophie Devery, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Andrew R. Webster |
| 720-729 | TRPM1 | Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, et al. | |
| 730-736 | Mutations in TRPM1 | Maria M. van Genderen, Mieke M.C. Bijveld, Yvonne B. Claassen, Ralph J. Florijn, Jillian N. Pearring, Francoise M. Meire, Maureen A. McCall, Frans C.C. Riemslag, Ronald G. Gregg, Arthur A.B. Bergen, Maarten Kamermans |
| 737-744 | Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia | Mohammad R. Abdollahi, Ewan Morrison, Tamara Sirey, Zoltan Molnar, Bruce E. Hayward, Ian M. Carr, Kelly Springell, C. Geoff Woods, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Daniela T. Pilz, Neil Stoodley, Yanick Crow, Graham R. Taylor, David T. Bonthron, Eamonn Sheridan |
| 745-749 | Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume | Manuel A.R. Ferreira, Jouke-Jan Hottenga, Nicole M. Warrington, Sarah E. Medland, Gonneke Willemsen, Robert W. Lawrence, Scott Gordon, Eco J.C. de Geus, Anjali K. Henders, Johannes H. Smit, Megan J. Campbell, Leanne Wallace, David M. Evans, Margaret J. Wright, Dale R. Nyholt, Alan L. James, John P. Beilby, Brenda W. Penninx, Lyle J. Palmer, Ian H. Frazer, et al. | |
| 750-755 | Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans | Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P. McEvoy, Allan F. McRae, Gu Zhu, Scott D. Gordon, Manuel A.R. Ferreira, Margaret J. Wright, Anjali K. Henders, Megan J. Campbell, David L. Duffy, Narelle K. Hansell, Stuart Macgregor, Wendy S. Slutske, Andrew C. Heath, Grant W. Montgomery, Nicholas G. Martin |
| 756 | FREM1 | Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya |
| 757-758 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 759-761 | This Month in Genetics | Kathryn B. Garber |
| 762-774 | Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies | Shuhua Xu, Xianyong Yin, Shilin Li, Wenfei Jin, Haiyi Lou, Ling Yang, Xiaohong Gong, Hongyan Wang, Yiping Shen, Xuedong Pan, Yungang He, Yajun Yang, Yi Wang, Wenqing Fu, Yu An, Jiucun Wang, Jingze Tan, Ji Qian, Xiaoli Chen, Xin Zhang, et al. | |
| 775-785 | Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation | Jieming Chen, Houfeng Zheng, Jin-Xin Bei, Liangdan Sun, Wei-hua Jia, Tao Li, Furen Zhang, Mark Seielstad, Yi-Xin Zeng, Xuejun Zhang, Jianjun Liu |
| 786-800 | Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty | Quanhe Yang, W. Dana Flanders, Ramal Moonesinghe, John P.A. Ioannidis, Idris Guessous, Muin J. Khoury |
| 801-808 | The Biological Coherence of Human Phenome Databases | Martin Oti, Martijn A. Huynen, Han G. Brunner |
| 809-822 | Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination | Joke Vandewalle, Hilde Van Esch, Karen Govaerts, Jelle Verbeeck, Christiane Zweier, Irene Madrigal, Montserrat Mila, Elly Pijkels, Isabel Fernandez, Jürgen Kohlhase, Christiane Spaich, Anita Rauch, Jean-Pierre Fryns, Peter Marynen, Guy Froyen |
| 823-832 | Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging | Mary Armanios, Jonathan K. Alder, Erin M. Parry, Baktiar Karim, Margaret A. Strong, Carol W. Greider |
| 833-846 | A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 | Helen M. Knight, Benjamin S. Pickard, Alan Maclean, Mary P. Malloy, Dinesh C. Soares, Allan F. McRae, Alison Condie, Angela White, William Hawkins, Kevin McGhee, Margaret van Beck, Donald J. MacIntyre, John M. Starr, Ian J. Deary, Peter M. Visscher, David J. Porteous, Ronald E. Cannon, David St Clair, Walter J. Muir, Douglas H.R. Blackwood |
| 847-861 | Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies | Brian L. Browning, Zhaoxia Yu |
| 862-872 | Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects | Dan-Yu Lin, Patrick F. Sullivan |
| 873-882 | Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome | Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke |
| 883-889 | Deletions and Point Mutations of LRRC50 | Niki Tomas Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, Hanswalter Zentgraf, Horst Seithe, Gudrun Nürnberg, Peter Nürnberg, Richard Reinhardt, Heymut Omran |
| 890-896 | Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 | Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, Judy Freshour, Anne-Marie Bridoux, André Coste, Antoine Deschildre, Jacques de Blic, Marie Legendre, Guy Montantin, Henrique Tenreiro, Anne-Marie Vojtek, Céline Loussert, Annick Clément, Denise Escalier, Philippe Bastin, David R. Mitchell, Serge Amselem |
| 897-902 | A Truncating Mutation of TRAPPC9 | Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh |
| 903-908 | Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation | Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Colleaux |
| 909-915 | Identification of Mutations in TRAPPC9 | Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuss, Gisele E. Ishak, Dan Doherty, H. Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent |
| 916-922 | Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga, Geert Mortier |
| 923-928 | Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection | Steve Rozen, Janet D. Marszalek, Raaji K. Alagappan, Helen Skaletsky, David C. Page |
| 929-933 | mtDNA Data Mining in GenBank Needs Surveying | Yong-Gang Yao, Antonio Salas, Ian Logan, Hans-Jürgen Bandelt |
| 933 | Response to Yao et al. | Luísa Pereira, David C. Samuels |
| 934-937 | Genetic Landscape of Eurasia and “Admixture” in Uyghurs | Hui Li, Kelly Cho, Judith R. Kidd, Kenneth K. Kidd |
| 937-939 | Response to Li et al. | Shuhua Xu, Li Jin |
| 939-942 | Haplotype Background, Repeat Length Evolution, and Huntington's Disease | Daniel Falush |
| 942-945 | Response to Falush: A Role for cis | Simon C. Warby, Henk Visscher, Stefanie Butland, Christopher E. Pearson, Michael R. Hayden |
| 1-2 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 3-5 | This Month in Genetics | Kathryn B. Garber |
| 6-22 | Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application | Rita M. Cantor, Kenneth Lange, Janet S. Sinsheimer |
| 23-33 | Leveraging Genetic Variability across Populations for the Identification of Causal Variants | Noah Zaitlen, Bogdan Paşaniuc, Tom Gur, Elad Ziv, Eran Halperin |
| 34-44 | Highly Punctuated Patterns of Population Structure on the X Chromosome and Implications for African Evolutionary History | Charla A. Lambert, Caitlin F. Connelly, Jennifer Madeoy, Ruolan Qiu, Maynard V. Olson, Joshua M. Akey |
| 45-53 | Missense Mutations in TCF8 | S. Amer Riazuddin, Norann A. Zaghloul, Amr Al-Saif, Lisa Davey, Bill H. Diplas, Danielle N. Meadows, Allen O. Eghrari, Mollie A. Minear, Yi-Ju Li, Gordon K. Klintworth, Natalie Afshari, Simon G. Gregory, John D. Gottsch, Nicholas Katsanis |
| 54-64 | Identification of KCNJ15 | Koji Okamoto, Naoko Iwasaki, Chisa Nishimura, Kent Doi, Eisei Noiri, Shinko Nakamura, Miho Takizawa, Makiko Ogata, Risa Fujimaki, Niels Grarup, Charlotta Pisinger, Knut Borch-Johnsen, Torsten Lauritzen, Annelli Sandbaek, Torben Hansen, Kazuki Yasuda, Haruhiko Osawa, Kishio Nanjo, Takashi Kadowaki, Masato Kasuga, et al. | |
| 65-71 | Loss-of-Function Mutations in the PRPS1 | Xuezhong Liu, Dongyi Han, Jianzhong Li, Bing Han, Xiaomei Ouyang, Jing Cheng, Xu Li, Zhanguo Jin, Youqin Wang, Maria Bitner-Glindzicz, Xiangyin Kong, Heng Xu, Albena Kantardzhieva, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman, Li L. Du, Zheng-Yi Chen, Pu Dai, Maikun Teng, et al. | |
| 72-76 | Targeted Next-Generation Sequencing Appoints C16orf57 | Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabio Macciardi, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza |
| 77-82 | A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease | Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson |
| 83-87 | Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene | Silke Appenzeller, Anja Schirmacher, Hartmut Halfter, Sebastian Bäumer, Manuela Pendziwiat, Vincent Timmerman, Peter De Jonghe, Klára Fekete, Florian Stögbauer, Peter Lüdemann, Margret Hund, Elgar Susanne Quabius, E. Bernd Ringelstein, Gregor Kuhlenbäumer |
| 88-92 | Quantitative Trait Loci for CD4:CD8 Lymphocyte Ratio Are Associated with Risk of Type 1 Diabetes and HIV-1 Immune Control | Manuel A.R. Ferreira, Massimo Mangino, Chanson J. Brumme, Zhen Zhen Zhao, Sarah E. Medland, Margaret J. Wright, Dale R. Nyholt, Scott Gordon, Megan Campbell, Brian P. McEvoy, Anjali Henders, David M. Evans, Jerry S. Lanchbury, Florencia Pereyra International HIV Controllers Study, Bruce D. Walker, David W. Haas, Nicole Soranzo, Tim D. Spector, Paul I.W. de Bakker, Ian H. Frazer, et al. | |
| 93-97 | Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 | Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg |
| 98-100 | A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 | Anja Naumann, Norbert Hochstein, Stefanie Weber, Ellen Fanning, Walter Doerfler |
| 101-102 | Announcements | |
| 103-104 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 105-107 | This Month in Genetics | Kathryn B. Garber |
| 108 | Genetic Dilemmas and the Right to an Open Future | Annelien Bredenoord |
| 109-112 | Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS | Benjamin Tycko |
| 113-125 | Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability | Dina Ruano, Gonçalo R. Abecasis, Beate Glaser, Esther S. Lips, L. Niels Cornelisse, Arthur P.H. de Jong, David M. Evans, George Davey Smith, Nicolas J. Timpson, August B. Smit, Peter Heutink, Matthijs Verhage, Danielle Posthuma |
| 126-137 | A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans | Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Önnerfjord, Björn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl, Dick Heinegård, Anders Aspberg |
| 138-147 | Homozygosity Mapping Reveals Mutations of GRXCR1 | Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, Patrick L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W.R.J. Cremers, Henricus P.M. Kunst, Wasim Ahmad, Ronald J.C. Admiraal, Suzanne M. Leal, Hannie Kremer |
| 148-160 | Mutations in Grxcr1 | Hana Odeh, Kristina L. Hunker, Inna A. Belyantseva, Hela Azaiez, Matthew R. Avenarius, Lili Zheng, Linda M. Peters, Leona H. Gagnon, Nobuko Hagiwara, Michael J. Skynner, Murray H. Brilliant, Nicholas D. Allen, Saima Riazuddin, Kenneth R. Johnson, Yehoash Raphael, Hossein Najmabadi, Thomas B. Friedman, James R. Bartles, Richard J.H. Smith, David C. Kohrman |
| 161-171 | The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans | Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, Syed Qasim Mehdi, Sylvester L.B. Kajuna, Csaba Barta, Selemani Kungulilo, N.J. Karoma, Ru-Band Lu, Olga V. Zhukova, Jong-Jin Kim, David Comas, Marcello Siniscalco, Maria New, Peining Li, Hui Li, Vangelis G. Manolopoulos, William C. Speed, Haseena Rajeevan, et al. | |
| 172-184 | ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure | Timothy Thornton, Mary Sara McPeek |
| 185-195 | Mutations in the Small GTPase Gene RAB39B | Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza, Hans-Hilger Ropers, Andreas Tzschach, Vera Kalscheuer, Barbara Oehl-Jaschkowitz, Cindy Skinner, Charles E. Schwartz, Jozef Gecz, Hilde Van Esch, Martine Raynaud, Jamel Chelly, et al. | |
| 196-212 | Allelic Skewing of DNA Methylation Is Widespread across the Genome | Leonard C. Schalkwyk, Emma L. Meaburn, Rebecca Smith, Emma L. Dempster, Aaron R. Jeffries, Matthew N. Davies, Robert Plomin, Jonathan Mill |
| 213-221 | Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies | Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, Ibrahim Mahjneh, Marianne de Visser, Rumaisa Bashir, Bernard Brais |
| 222-228 | Ribosomal Protein Genes RPS10 | Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Robert J. Arceci, Jason E. Farrar, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Hanna T. Gazda |
| 229-239 | Association of JAG1 | Annie W.C. Kung, Su-Mei Xiao, Stacey Cherny, Gloria H.Y. Li, Yi Gao, Gloria Tso, Kam S. Lau, Keith D.K. Luk, Jian-min Liu, Bin Cui, Min-Jia Zhang, Zhen-lin Zhang, Jin-wei He, Hua Yue, Wia-bo Xia, Lian-mei Luo, Shu-li He, Douglas P. Kiel, David Karasik, Yi-Hsiang Hsu, et al. | |
| 240-247 | Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 | Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C. Erik van Nouhuys, F. Nienke Boonstra, Ellen A.W. Blokland, Peer Arts, Nienke Wieskamp, Tim M. Strom, Carmen Ayuso, Mauk A.D. Tilanus, Sanne Bouwhuis, Arijit Mukhopadhyay, Hans Scheffer, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Rob W.J. Collin |
| 248-253 | Mutations in TSPAN12 | James A. Poulter, Manir Ali, David F. Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A. Mackey, Lisa S. Kearns, Jonathan B. Ruddle, Jamie E. Craig, Eric A. Pierce, Louise M. Downey, Moin D. Mohamed, Alexander F. Markham, Chris F. Inglehearn, Carmel Toomes |
| 254-261 | Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B | Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz-Lozano, M. Cecilia Scimia, James D. Lindsey, Robert Weinreb, Beate Albrecht, Andre Megarbane, Yasemin Alanay, Ziva Ben-Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luis Millán, Raoul Hennekam, Ben Hamel, et al. | |
| 262-266 | Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 | Petra van der Lelij, Krystyna H. Chrzanowska, Barbara C. Godthelp, Martin A. Rooimans, Anneke B. Oostra, Markus Stumm, Małgorzata Z. Zdzienicka, Hans Joenje, Johan P. de Winter |
| 267-272 | Loss-of-Function ENPP1 | Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom |
| 273-278 | Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 | Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, Ruti Parvari |
| 279-284 | Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 | Reinhard Schneppenheim, Michael C. Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vater, Reiner Siebert |
| 285-291 | Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 | Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, Teppo Varilo, Suvi Kallio, Anu Kemppinen, Shaun Purcell, Keijo Koivisto, Pentti Tienari, Marja-Liisa Sumelahti, Irina Elovaara, Tuula Pirttilä, Mauri Reunanen, Arpo Aromaa, Annette Bang Oturai, Helle Bach Søndergaard, Hanne F. Harbo, Inger-Lise Mero, Stacey B. Gabriel, Daniel B. Mirel, et al. | |
| 292 | No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation | Aimee S. Payne |
| 292 | Response to Payne | Wasim Ahmad |
| 293 | Mutations in SPATA7 | Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Emad B. Abboud, Ali A. Al-Rajhi, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen |
| 294 | Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 | Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg |
| 295 | Acute Infantile Liver Failure Due to Mutations in the TRMU | Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpeleg |
| 296 | Announcement | |
| 297-298 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 299-301 | This Month in Genetics | Kathryn B. Garber |
| 302-308 | 2008 Presidential Address: Principia Genetica | Aravinda Chakravarti |
| 309-310 | 2009 ASHG Awards and Addresses | |
| 311-315 | 2009 Presidential Address: Beyond Darwin? Evolution, Coevolution, and the American Society of Human Genetics | Edward R.B. McCabe |
| 316-317 | 2009 William Allan Award Introduction: Huntington F. Willard | Terry Hassold |
| 318-327 | 2009 William Allan Award Address: Life in The Sandbox: Unfinished Business | Huntington F. Willard |
| 328-330 | Regulation of Gene Expression by Small RNAs | Zohreh Talebizadeh |
| 331-342 | Using Principal Components of Genetic Variation for Robust and Powerful Detection of Gene-Gene Interactions in Case-Control and Case-Only Studies | Samsiddhi Bhattacharjee, Zhaoming Wang, Julia Ciampa, Peter Kraft, Stephen Chanock, Kai Yu, Nilanjan Chatterjee |
| 343-352 | Missense Mutations in the Copper Transporter Gene ATP7A | Marina L. Kennerson, Garth A. Nicholson, Stephen G. Kaler, Bartosz Kowalski, Julian F.B. Mercer, Jingrong Tang, Roxana M. Llanos, Shannon Chu, Reinaldo I. Takata, Carlos E. Speck-Martins, Jonathan Baets, Leonardo Almeida-Souza, Dirk Fischer, Vincent Timmerman, Philip E. Taylor, Steven S. Scherer, Toby A. Ferguson, Thomas D. Bird, Peter De Jonghe, Shawna M.E. Feely, et al. | |
| 353-363 | Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations | Damian Labuda, Jean-François Lefebvre, Philippe Nadeau, Marie-Hélène Roy-Gagnon |
| 364-377 | Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution | Richard J.L.F. Lemmers, Patrick J. van der Vliet, Kristiaan J. van der Gaag, Sofia Zuniga, Rune R. Frants, Peter de Knijff, Silvère M. van der Maarel |
| 378-388 | Targeted Capture and Next-Generation Sequencing Identifies C9orf75 | Atteeq Ur Rehman, Robert J. Morell, Inna A. Belyantseva, Shahid Y. Khan, Erich T. Boger, Mohsin Shahzad, Zubair M. Ahmed, Saima Riazuddin, Shaheen N. Khan, Sheikh Riazuddin, Thomas B. Friedman |
| 389-398 | Homozygosity for a Missense Mutation in SERPINH1 | Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman AlSwaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie G. Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers |
| 399-410 | Systems Genetics Analysis of Gene-by-Environment Interactions in Human Cells | Casey E. Romanoski, Sangderk Lee, Michelle J. Kim, Leslie Ingram-Drake, Christopher L. Plaisier, Roumyana Yordanova, Charles Tilford, Bo Guan, Aiqing He, Peter S. Gargalovic, Todd G. Kirchgessner, Judith A. Berliner, Aldons J. Lusis |
| 411-419 | Genetic Control of Individual Differences in Gene-Specific Methylation in Human Brain | Dandan Zhang, Lijun Cheng, Judith A. Badner, Chao Chen, Qi Chen, Wei Luo, David W. Craig, Margot Redman, Elliot S. Gershon, Chunyu Liu |
| 420-433 | DNA Methylome of Familial Breast Cancer Identifies Distinct Profiles Defined by Mutation Status | James M. Flanagan, Sibylle Cocciardi, Nic Waddell, Cameron N. Johnstone, Anna Marsh, Stephen Henderson, Peter Simpson, Leonard da Silva kConFab Investigators, Kumkum Khanna, Sunil Lakhani, Chris Boshoff, Georgia Chenevix-Trench |
| 434-439 | Deletion and Point Mutations of PTHLH | Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline Blom, Yves Gillerot, Johannes F.W. Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos |
| 440-446 | A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 | Chao Xing, Jonathan C. Cohen, Eric Boerwinkle |
| 447-453 | Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease | Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres-Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe R. Chikwava, Oscar W. Cummings, D. Holmes Morton, Erik G. Puffenberger |
| 454-461 | Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities | Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie Gastier-Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane, Wendy E. Smith, Valerie Banks, William B. Gallentine, Pamela Brock, M. Katharine Rudd, Margaret P. Adam, Julia A. Keene, John A. Phillips III, Jean P. Pfotenhauer, et al. | |
| 462-470 | Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS | Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie A. Withers, James R. Lupski |
| 471-478 | Mutations in FLVCR2 | Esther Meyer, Christopher Ricketts, Neil V. Morgan, Mark R. Morris, Shanaz Pasha, Louise J. Tee, Fatimah Rahman, Anne Bazin, Bettina Bessières, Pierre Déchelotte, Mohamed T. Yacoubi, Mudher Al-Adnani, Tamas Marton, David Tannahill, Richard C. Trembath, Catherine Fallet-Bianco, Phillip Cox, Denise Williams, Eamonn R. Maher |
| 479-484 | Mutations in TPRN | Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik |
| 485-489 | Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 | Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova |
| 490-493 | Evolutionary History of the ADRB2 | Richard H. Wilson, Colin N. Moran, John J. Cole, Yannis P. Pitsiladis, Mark E.S. Bailey |
| 493-495 | Response to Wilson et al. | Matteo Fumagalli, Rachele Cagliani, Uberto Pozzoli, Manuela Sironi |
| 495-497 | About the X-to-Y Gene Conversion Rate | Fulvio Cruciani, Beniamino Trombetta, Vincent Macaulay, Rosaria Scozzari |
| 497-498 | Response to Cruciani et al. | Zoë H. Rosser, Patricia Balaresque, Mark A. Jobling |
| 498-499 | No Evidence of Association of Heterozygous NTF4 Mutations in Patients with Primary Open-Angle Glaucoma | Yutao Liu, Wenjing Liu, Kristy Crooks, Silke Schmidt, R. Rand Allingham, Michael A. Hauser |
| 500 | Response to Liu et al. | Francesca Pasutto, André Reis |
| 501-502 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 503-505 | This Month in Genetics | Kathryn B. Garber |
| 506-518 | PRPS1 | Arjan P.M. de Brouwer, Hans van Bokhoven, Sander B. Nabuurs, Willem Frans Arts, John Christodoulou, John Duley |
| 519-525 | A Variant in LIN28B | Sarah E. Medland, Tetyana Zayats, Beate Glaser, Dale R. Nyholt, Scott D. Gordon, Margaret J. Wright, Grant W. Montgomery, Megan J. Campbell, Anjali K. Henders, Nicholas J. Timpson, Leena Peltonen, Dieter Wolke, Susan M. Ring, Panos Deloukas, Nicholas G. Martin, George Davey Smith, David M. Evans |
| 526-539 | High-Resolution Detection of Identity by Descent in Unrelated Individuals | Sharon R. Browning, Brian L. Browning |
| 540-550 | Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans | Passorn Wonnapinij, Patrick F. Chinnery, David C. Samuels |
| 551-559 | Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta | Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, et al. | |
| 560-572 | Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record | Marylyn D. Ritchie, Joshua C. Denny, Dana C. Crawford, Andrea H. Ramirez, Justin B. Weiner, Jill M. Pulley, Melissa A. Basford, Kristin Brown-Gentry, Jeffrey R. Balser, Daniel R. Masys, Jonathan L. Haines, Dan M. Roden |
| 573-580 | On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls | Jessica Lasky-Su, Sungho Won, Eric Mick, Richard J.L. Anney, Barbara Franke, Benjamin Neale, Joseph Biederman, Susan L. Smalley, Sandra K. Loo, Alexandre Todorov, Stephen V. Faraone, Scott T. Weiss, Christoph Lange |
| 581-591 | Integrating Pathway Analysis and Genetics of Gene Expression for Genome-wide Association Studies | Hua Zhong, Xia Yang, Lee M. Kaplan, Cliona Molony, Eric E. Schadt |
| 592-595 | A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1 | Pierre-Emmanuel Morange, Irene Bezemer, Noémie Saut, Lance Bare, Gwenaelle Burgos, Jessy Brocheton, Hervé Durand, Christine Biron-Andreani, Jean-Francois Schved, Gilles Pernod, Pilar Galan, Ludovic Drouet, Diana Zelenika, Marine Germain, Viviane Nicaud, Simon Heath, Ewa Ninio, Aurélien Delluc, Thomas Münzel, Tanja Zeller, et al. | |
| 596-603 | A Single-Nucleotide Deletion in the POMP | Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl |
| 604-610 | Mutations in PTPRQ | Margit Schraders, Jaap Oostrik, Patrick L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P.M. Kunst, Lies H. Hoefsloot, Cor W.R.J. Cremers, Ronald J.C. Admiraal, Hannie Kremer |
| 611-620 | Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture | Lluis Quintana-Murci, Christine Harmant, Hélène Quach, Oleg Balanovsky, Valery Zaporozhchenko, Connie Bormans, Paul D. van Helden, Eileen G. Hoal, Doron M. Behar |
| 621-625 | Evidence for Polygenic Susceptibility to Multiple Sclerosis—The Shape of Things to Come | The International Multiple Sclerosis Genetics Consortium (IMSGC) |
| 626-631 | Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time | Lorna M. Houlihan, Gail Davies, Albert Tenesa, Sarah E. Harris, Michelle Luciano, Alan J. Gow, Kevin A. McGhee, David C. Liewald, David J. Porteous, John M. Starr, Gordon D. Lowe, Peter M. Visscher, Ian J. Deary |
| 632-638 | Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74 | Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Mazen Kurban, Angela M. Christiano |
| 639-649 | Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor | Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani |
| 650-652 | The LCR at the IKBKG | Francesca Fusco, Michele D'Urso, Maria Giuseppina Miano, Matilde Valeria Ursini |
| 652-653 | Response to Fusco et al. | Guy Froyen |
| 654 | Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture | Lluis Quintana-Murci, Christine Harmant, Hélène Quach, Oleg Balanovsky, Valery Zaporozhchenko, Connie Bormans, Paul D. van Helden, Eileen G. Hoal, Doron M. Behar |
| 655 | A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1 | Pierre-Emmanuel Morange, Irene Bezemer, Noémie Saut, Lance Bare, Gwenaelle Burgos, Jessy Brocheton, Hervé Durand, Christine Biron-Andreani, Jean-Francois Schved, Gilles Pernod, Pilar Galan, Ludovic Drouet, Diana Zelenika, Marine Germain, Viviane Nicaud, Simon Heath, Ewa Ninio, Aurélien Delluc, Thomas Münzel, Tanja Zeller, et al. | |
| 655 | A Single-Nucleotide Deletion in the POMP | Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl |
| 655-656 | Ribosomal Protein Genes RPS10 | Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Robert J. Arceci, Jason E. Farrar, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Hanna T. Gazda |
| 657-658 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 659-660 | This Month in Genetics | Kathryn B. Garber |
| 661-673 | Inferring Genetic Ancestry: Opportunities, Challenges, and Implications | Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B. Goldstein, Jeffrey C. Long, Michael J. Bamshad, Andrew G. Clark |
| 674-685 | Detecting Coevolution through Allelic Association between Physically Unlinked Loci | Rori V. Rohlfs, Willie J. Swanson, Bruce S. Weir |
| 686-695 | Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 | Darryl Y. Nishimura, Lisa M. Baye, Rahat Perveen, Charles C. Searby, Almudena Avila-Fernandez, Ines Pereiro, Carmen Ayuso, Diana Valverde, Paul N. Bishop, Forbes D.C. Manson, Jill Urquhart, Edwin M. Stone, Diane C. Slusarski, Graeme C.M. Black, Val C. Sheffield |
| 696-706 | LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome | Yun Li, Barbara Pawlik, Nursel Elcioglu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, Ferda Percin, Frances Goodman, Gudrun Nürnberg, Asim Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayca D. Aslanger, Christian Becker, Christian Netzer, Pete Scambler, Wafaa Eyaid, Hanan Hamamy, et al. | |
| 707-718 | Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes | Erin L. Heinzen, Rodney A. Radtke, Thomas J. Urban, Gianpiero L. Cavalleri, Chantal Depondt, Anna C. Need, Nicole M. Walley, Paola Nicoletti, Dongliang Ge, Claudia B. Catarino, John S. Duncan, Dalia Kasperavičiūte˙, Sarah K. Tate, Luis O. Caboclo, Josemir W. Sander, Lisa Clayton, Kristen N. Linney, Kevin V. Shianna, Curtis E. Gumbs, Jason Smith, et al. | |
| 719-729 | Gene Expression and Genetic Variation in Response to Endoplasmic Reticulum Stress in Human Cells | Beth A. Dombroski, Renuka R. Nayak, Kathryn G. Ewens, Wendy Ankener, Vivian G. Cheung, Richard S. Spielman |
| 730-742 | Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies | Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hakon Hakonarson |
| 743-748 | Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 | Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Stacie K. Loftus NIH Intramural Sequencing Center, Karen Chong, James C. Mullikin, Leslie G. Biesecker |
| 749-764 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, et al. | |
| 765-772 | Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability | Dean A. Regier, Jan M. Friedman, Carlo A. Marra |
| 773-782 | Distinct Variants at LIN28B | Elisabeth Widén, Samuli Ripatti, Diana L. Cousminer, Ida Surakka, Tuuli Lappalainen, Marjo-Riitta Järvelin, Johan G. Eriksson, Olli Raitakari, Veikko Salomaa, Ulla Sovio, Anna-Liisa Hartikainen, Anneli Pouta, Mark I. McCarthy, Clive Osmond, Eero Kajantie, Terho Lehtimäki, Jorma Viikari, Mika Kähönen, Chris Tyler-Smith, Nelson Freimer, et al. | |
| 783-788 | Mutations in C2ORF71 | Rob W.J. Collin, Christine Safieh, Karin W. Littink, Stavit A. Shalev, Hanna J. Garzozi, Leah Rizel, Anan H. Abbasi, Frans P.M. Cremers, Anneke I. den Hollander, B. Jeroen Klevering, Tamar Ben-Yosef |
| 789-796 | Disruption of ALX1 | Elif Uz, Yasemin Alanay, Dilek Aktas, Ibrahim Vargel, Safak Gucer, Gokhan Tuncbilek, Ferdinand von Eggeling, Engin Yilmaz, Ozgur Deren, Nicole Posorski, Hilal Ozdag, Thomas Liehr, Sevim Balci, Mehmet Alikasifoglu, Bernd Wollnik, Nurten A. Akarsu |
| 797-804 | A Truncating Mutation in SERPINB6 | Aslı Sırmacı, Seyra Erbek, Justin Price, Mingqian Huang, Duygu Duman, F. Başak Cengiz, Güney Bademci, Suna Tokgöz-Yılmaz, Burcu Hişmi, Hilal Özdağ, Banu Öztürk, Sevsen Kulaksızoğlu, Erkan Yıldırım, Haris Kokotas, Maria Grigoriadou, Michael B. Petersen, Hashem Shahin, Moien Kanaan, Mary-Claire King, Zheng-Yi Chen, et al. | |
| 805-812 | A Splice-Site Mutation in a Retina-Specific Exon of BBS8 | S. Amer Riazuddin, Muhammad Iqbal, Yue Wang, Tomohiro Masuda, Yuhng Chen, Sara Bowne, Lori S. Sullivan, Naushin H. Waseem, Shomi Bhattacharya, Stephen P. Daiger, Kang Zhang, Shaheen N. Khan, Sheikh Riazuddin, J. Fielding Hejtmancik, Paul A. Sieving, Donald J. Zack, Nicholas Katsanis |
| 813-818 | The Number of Markers in the HapMap Project: Some Notes on Chi-Square and Exact Tests for Hardy-Weinberg Equilibrium | Jan Graffelman |
| 818-819 | Response to Graffelman: Tests of Hardy-Weinberg Equilibrium | David J. Cutler, Gonçalo R. Abecasis |
| 819-822 | Tuba8 | Andreas Braun, Martin Breuss, Marion C. Salzer, Jonathan Flint, Nicholas J. Cowan, David A. Keays |
| 822-823 | Response to Braun et al. | Eamonn Sheridan, David T. Bonthron, Mohammad R. Abdollahi |
| 825-826 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 827-829 | This Month in Genetics | Kathryn B. Garber |
| 830-831 | The Woman Who Walked into the Sea: Huntington's and the Making of a Genetic Disease | Wendy R. Uhlmann |
| 832-838 | Pooled Association Tests for Rare Variants in Exon-Resequencing Studies | Alkes L. Price, Gregory V. Kryukov, Paul I.W. de Bakker, Shaun M. Purcell, Jeff Staples, Lee-Jen Wei, Shamil R. Sunyaev |
| 839-849 | Haploinsufficiency of TAB2 | Bernard Thienpont, Litu Zhang, Alex V. Postma, Jeroen Breckpot, Léon-Charles Tranchevent, Peter Van Loo, Kjeld Møllgård, Niels Tommerup, Iben Bache, Zeynep Tümer, Klaartje van Engelen, Björn Menten, Geert Mortier, Darrel Waggoner, Marc Gewillig, Yves Moreau, Koen Devriendt, Lars Allan Larsen |
| 850-859 | Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry | Gil Atzmon, Li Hao, Itsik Pe'er, Christopher Velez, Alexander Pearlman, Pier Francesco Palamara, Bernice Morrow, Eitan Friedman, Carole Oddoux, Edward Burns, Harry Ostrer |
| 860-871 | Insights into Colon Cancer Etiology via a Regularized Approach to Gene Set Analysis of GWAS Data | Lin S. Chen, Carolyn M. Hutter, John D. Potter, Yan Liu, Ross L. Prentice, Ulrike Peters, Li Hsu |
| 872-880 | Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome | Yanzong Yang, Yiqing Yang, Bo Liang, Jinqiu Liu, Jun Li, Morten Grunnet, Søren-Peter Olesen, Hanne B. Rasmussen, Patrick T. Ellinor, Lianjun Gao, Xiaoping Lin, Li Li, Lei Wang, Junjie Xiao, Yi Liu, Ying Liu, Shulong Zhang, Dandan Liang, Luying Peng, Thomas Jespersen, et al. | |
| 881-891 | Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay | Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, et al. | |
| 892-903 | Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability | Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A.J. Weterman, Claudia Gonzaga-Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski |
| 904-917 | Principal-Component Analysis for Assessment of Population Stratification in Mitochondrial Medical Genetics | Alessandro Biffi, Christopher D. Anderson, Michael A. Nalls, Rosanna Rahman, Akshata Sonni, Lynelle Cortellini, Natalia S. Rost, Mar Matarin, Dena G. Hernandez, Anna Plourde, Paul I.W. de Bakker, Owen A. Ross, Steven M. Greenberg, Karen L. Furie, James F. Meschia, Andrew B. Singleton, Richa Saxena, Jonathan Rosand |
| 918-928 | A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events | Yoji Kukita, Koji Yahara, Tomoko Tahira, Koichiro Higasa, Miki Sonoda, Ken Yamamoto, Kiyoko Kato, Norio Wake, Kenshi Hayashi |
| 929-942 | Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies | Michael C. Wu, Peter Kraft, Michael P. Epstein, Deanne M. Taylor, Stephen J. Chanock, David J. Hunter, Xihong Lin |
| 943-948 | GJC2 | Robert E. Ferrell, Catherine J. Baty, Mark A. Kimak, Jenny M. Karlsson, Elizabeth C. Lawrence, Marlise Franke-Snyder, Stephen D. Meriney, Eleanor Feingold, David N. Finegold |
| 949-956 | Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 | Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W. Kuss |
| 957-962 | Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome | Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins-Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie-Antoinette Voelckel, Weikuan Gu, Wen-Cheng Xiong, Lin Mei, Jin-Xiong She, Cong-Yi Wang |
| 963-969 | Mutations in HPSE2 | Sarah B. Daly, Jill E. Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen Stuart, Dian Donnai, David A. Long, Berk Burgu, Ozgu Aydogdu, Murat Derbent, Sixto Garcia-Minaur, Willie Reardon, Blanca Gener, Stavit Shalev, Rupert Smith, Adrian S. Woolf, Graeme C. Black, et al. | |
| 970-977 | Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection | Alexandra Zhernakova, Clara C. Elbers, Bart Ferwerda, Jihane Romanos, Gosia Trynka, Patrick C. Dubois, Carolien G.F. de Kovel, Lude Franke, Marije Oosting, Donatella Barisani, Maria Teresa Bardella Finnish Celiac Disease Study Group, Leo A.B. Joosten, Paivi Saavalainen, David A. van Heel, Carlo Catassi, Mihai G. Netea, Cisca Wijmenga |
| 978-980 | Sex-Averaged Recombination and Mutation Rates on the X Chromosome: A Comment on Labuda et al. | Kirk E. Lohmueller, Jeremiah D. Degenhardt, Alon Keinan |
| 980-981 | Response to Lohmueller et al. | Damian Labuda, Jean-François Lefebvre, Marie-Hélène Roy-Gagnon |
| 982 | Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations | Damian Labuda, Jean-Francois Lefebvre, Phillipe Nadeau, Marie-Helene Roy-Gagnon |
| 982 | Pooled Association Tests for Rare Variants in Exon-Resequencing Studies | Alkes L. Price, Gregory V. Kryukov, Paul I.W. de Bakker, Shaun M. Purcell, Jeff Staples, Lee-Jen Wei, Shamil R. Sunyaev |
| 1-2 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 3-5 | This Month in Genetics | Kathryn B. Garber |
| 6-16 | IRF4 | David L. Duffy, Mark M. Iles, Dan Glass, Gu Zhu, Jennifer H. Barrett, Veronica Höiom, Zhen Z. Zhao, Richard A. Sturm, Nicole Soranzo, Chris Hammond, Marina Kvaskoff, David C. Whiteman, Massimo Mangino, Johan Hansson, Julia A. Newton-Bishop GenoMEL, Veronique Bataille, Nicholas K. Hayward, Nicholas G. Martin, D. Timothy Bishop, Timothy D. Spector, et al. | |
| 17-25 | Population Genetic Structure of the People of Qatar | Haley Hunter-Zinck, Shaila Musharoff, Jacqueline Salit, Khalid A. Al-Ali, Lotfi Chouchane, Abeer Gohar, Rebecca Matthews, Marcus W. Butler, Jennifer Fuller, Neil R. Hackett, Ronald G. Crystal, Andrew G. Clark |
| 26-39 | X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins | Jessica C. Gardner, Tom R. Webb, Naheed Kanuga, Anthony G. Robson, Graham E. Holder, Andrew Stockman, Caterina Ripamonti, Neil D. Ebenezer, Olufunmilola Ogun, Sophie Devery, Genevieve A. Wright, Eamonn R. Maher, Michael E. Cheetham, Anthony T. Moore, Michel Michaelides, Alison J. Hardcastle |
| 40-51 | Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 | Duane L. Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Scott Perry, Tina Babineau-Sturk, Jill Beis, Nadine Dumas, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Lysanne Patry, Andrea L. Rideout, Aidan Thomas, Andrew Orr, Ingrid Hoffmann, Jacques L. Michaud, et al. | |
| 52-59 | Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2 | Lisa G. Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T. Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou |
| 60-74 | Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability | Eileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth A. Grice, Francesca Lantieri, Jeanne Amiel, Grzegorz Burzynski, Raquel M. Fernandez, Li Hao, Carl Kashuk, Kristen West, Xiaoping Miao, Paul K.H. Tam, Paola Griseri, Isabella Ceccherini, Anna Pelet, Anne-Sophie Jannot, Loic de Pontual, Alexandra Henrion-Caude, Stanislas Lyonnet, Joke B.G.M. Verheij, et al. | |
| 75-89 | Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 | Jun Mitsui, Yuji Takahashi, Jun Goto, Hiroyuki Tomiyama, Shunpei Ishikawa, Hiroyo Yoshino, Narihiro Minami, David I. Smith, Suzanne Lesage, Hiroyuki Aburatani, Ichizo Nishino, Alexis Brice, Nobutaka Hattori, Shoji Tsuji |
| 90-94 | Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82 | Tom Walsh, Hashem Shahin, Tal Elkan-Miller, Ming K. Lee, Anne M. Thornton, Wendy Roeb, Amal Abu Rayyan, Suheir Loulus, Karen B. Avraham, Mary-Claire King, Moien Kanaan |
| 95-100 | Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 | Bertrand Isidor, Olivier Pichon, Richard Redon, Debra Day-Salvatore, Antoine Hamel, Karolina A. Siwicka, Maria Bitner-Glindzicz, Dominique Heymann, Lena Kjellén, Cornelia Kraus, Jules G. Leroy, Geert R. Mortier, Anita Rauch, Alain Verloes, Albert David, Cédric Le Caignec |
| 101-109 | Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51 | Tom Walsh, Sarah B. Pierce, Danielle R. Lenz, Zippora Brownstein, Orit Dagan-Rosenfeld, Hashem Shahin, Wendy Roeb, Shane McCarthy, Alex S. Nord, Carlos R. Gordon, Ziva Ben-Neriah, Jonathan Sebat, Moien Kanaan, Ming K. Lee, Moshe Frydman, Mary-Claire King, Karen B. Avraham |
| 110-114 | Identification of a Frameshift Mutation in Osterix | Pablo Lapunzina, Mona Aglan, Samia Temtamy, José A. Caparrós-Martín, Maria Valencia, Rocío Letón, Victor Martínez-Glez, Rasha Elhossini, Khalda Amr, Nuria Vilaboa, Victor L. Ruiz-Perez |
| 115-122 | Mutations in C12orf65 | Hana Antonicka, Elsebet Østergaard, Florin Sasarman, Woranontee Weraarpachai, Flemming Wibrand, Anne Marie B. Pedersen, Richard J. Rodenburg, Marjo S. van der Knaap, Jan A.M. Smeitink, Zofia M. Chrzanowska-Lightowlers, Eric A. Shoubridge |
| 123-128 | Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping | Anna Pluzhnikov, Jennifer E. Below, Anuar Konkashbaev, Anna Tikhomirov, Emily Kistner-Griffin, Cheryl A. Roe, Dan L. Nicolae, Nancy J. Cox |
| 129-138 | Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome | Benjamín Rodríguez-Santiago, Núria Malats, Nathaniel Rothman, Lluís Armengol, Montse Garcia-Closas, Manolis Kogevinas, Olaya Villa, Amy Hutchinson, Julie Earl, Gaëlle Marenne, Kevin Jacobs, Daniel Rico, Adonina Tardón, Alfredo Carrato, Gilles Thomas, Alfonso Valencia, Debra Silverman, Francisco X. Real, Stephen J. Chanock, Luis A. Pérez-Jurado |
| 139-145 | A Versatile Gene-Based Test for Genome-wide Association Studies | Jimmy Z. Liu, Allan F. Mcrae, Dale R. Nyholt, Sarah E. Medland, Naomi R. Wray, Kevin M. Brown AMFS Investigators, Nicholas K. Hayward, Grant W. Montgomery, Peter M. Visscher, Nicholas G. Martin, Stuart Macgregor |
| 146-153 | Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA | Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyurek, Johan T. den Dunnen, Martijn H. Breuning |
| 154-160 | Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4 | David M. Alvarado, Hyuliya Aferol, Kevin McCall, Jason B. Huang, Matthew Techy, Jillian Buchan, Janet Cady, Patrick R. Gonzales, Matthew B. Dobbs, Christina A. Gurnett |
| 161 | Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells | Qing Cheng, Cheng Cheng, Kristine R. Crews, Raul C. Ribeiro, Ching-Hon Pui, Mary V. Relling, William E. Evans |
| 161 | Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome | Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins-Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie-Antoinette Voelckel, Richard B. Fisher, Weikuan Gu, Wen-Cheng Xiong, Lin Mei, Jin-Xiong She, Cong-Yi Wang |
| 163-164 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 165-167 | This Month in Genetics | Kathryn B. Garber |
| 168-172 | Genetic Self Knowledge and the Future of Epidemiologic Confounding | Tyler Vander Weele |
| 173-188 | Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability | Annabel C. Whibley, Vincent Plagnol, Patrick S. Tarpey, Fatima Abidi, Tod Fullston, Maja K. Choma, Catherine A. Boucher, Lorraine Shepherd, Lionel Willatt, Georgina Parkin, Raffaella Smith, P. Andrew Futreal, Marie Shaw, Jackie Boyle, Andrea Licata, Cindy Skinner, Roger E. Stevenson, Gillian Turner, Michael Field, Anna Hackett, et al. | |
| 189-198 | Distinct Effects of Allelic NFIX | Valérie Malan, Diana Rajan, Sophie Thomas, Adam C. Shaw, Hélène Louis dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai-Mallet, Nigel P. Carter, Michel Vekemans, Arnold Munnich, Raoul C. Hennekam, Laurence Colleaux, Valérie Cormier-Daire |
| 199-208 | Mutations in IMPG2 | Dikla Bandah-Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L.M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad I. Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C.W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, et al. | |
| 209-218 | A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) | Molly B. Sheridan, Takema Kato, Chad Haldeman-Englert, G. Reza Jalali, Jeff M. Milunsky, Ying Zou, Ruediger Klaes, Georgio Gimelli, Stefania Gimelli, Robert M. Gemmill, Harry A. Drabkin, April M. Hacker, Julia Brown, David Tomkins, Tamim H. Shaikh, Hiroki Kurahashi, Elaine H. Zackai, Beverly S. Emanuel |
| 219-228 | Haploinsufficiency of HDAC4 | Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea |
| 229-236 | Microdeletions of 3q29 Confer High Risk for Schizophrenia | Jennifer Gladys Mulle, Anne F. Dodd, John A. McGrath, Paula S. Wolyniec, Adele A. Mitchell, Amol C. Shetty, Nara L. Sobreira, David Valle, M. Katharine Rudd, Glen Satten, David J. Cutler, Ann E. Pulver, Stephen T. Warren |
| 237-249 | Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes | Mingkun Li, Anna Schönberg, Michael Schaefer, Roland Schroeder, Ivane Nasidze, Mark Stoneking |
| 250-257 | Heterozygous Germline Mutations in the CBL | Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, Maria C. Digilio, Maria L. Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni B. Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, et al. | |
| 258-264 | Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G | Liron Dvir, Gassoub Srour, Rasmi Abu-Ras, Benjamin Miller, Stavit A. Shalev, Tamar Ben-Yosef |
| 265-273 | Mutations in PVRL4 | Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, Omar Boudghene-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, Amina Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola |
| 274-281 | Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease | Vinzenz Oji, Katja-Martina Eckl, Karin Aufenvenne, Marc Nätebus, Tatjana Tarinski, Katharina Ackermann, Natalia Seller, Dieter Metze, Gudrun Nürnberg, Regina Fölster-Holst, Monika Schäfer-Korting, Ingrid Hausser, Heiko Traupe, Hans Christian Hennies |
| 282-288 | Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome | Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne M. Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy-Lahad, Rachel E. Klevit, Mary-Claire King |
| 289-296 | Homozygous Nonsense Mutations in TWIST2 | Turgut Tukel, Dražen Šošić, Lihadh I. Al-Gazali, Mónica Erazo, Jose Casasnovas, Hector L. Franco, James A. Richardson, Eric N. Olson, Carmen L. Cadilla, Robert J. Desnick |
| 297-305 | Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry | Brian P. McEvoy, Joanne M. Lind, Eric T. Wang, Robert K. Moyzis, Peter M. Visscher, Sheila M. van Holst Pellekaan, Alan N. Wilton |
| 306-307 | FKBP10 | Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S. Alzayed, Fowzan S. Alkuraya |
| 308 | Response to Shaheen et al. | Yasemin Alanay, Deborah Krakow |
| 309 | Mutations in HPSE2 | Sarah B. Daly, Jill E. Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen Stuart, Dian Donnai, David A. Long, Berk Burgu, Ozgu Aydogdu, Murat Derbent, Sixto Garcia-Minaur, Willie Reardon, Blanca Gener, Stavit Shalev, Rupert Smith, Adrian S. Woolf, Graeme C. Black, et al. | |
| 310 | Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record | Marylyn D. Ritchie, Joshua C. Denny, Dana C. Crawford, Andrea H. Ramirez, Justin B. Weiner, Jill M. Pulley, Melissa A. Basford, Kristin Brown-Gentry, Jeffrey R. Balser, Daniel R. Masys, Jonathan L. Haines, Dan M. Roden |
| 311-312 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 313-314 | This Month in Genetics | Kathryn B. Garber |
| 315 | A Guide to Genetic Counseling, 2nd Edition | Michelle Fox |
| 316-324 | Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts | Philip Awadalla, Julie Gauthier, Rachel A. Myers, Ferran Casals, Fadi F. Hamdan, Alexander R. Griffing, Mélanie Côté, Edouard Henrion, Dan Spiegelman, Julien Tarabeux, Amélie Piton, Yan Yang, Adam Boyko, Carlos Bustamante, Lan Xiong, Judith L. Rapoport, Anjené M. Addington, J. Lynn E. DeLisi, Marie-Odile Krebs, Ridha Joober, et al. | |
| 325-340 | BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies | Xiang Wan, Can Yang, Qiang Yang, Hong Xue, Xiaodan Fan, Nelson L.S. Tang, Weichuan Yu |
| 341-353 | Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications | Kaye N. Ballantyne, Miriam Goedbloed, Rixun Fang, Onno Schaap, Oscar Lao, Andreas Wollstein, Ying Choi, Kate van Duijn, Mark Vermeulen, Silke Brauer, Ronny Decorte, Micaela Poetsch, Nicole von Wurmb-Schwark, Peter de Knijff, Damian Labuda, Hélène Vézina, Hans Knoblauch, Rüdiger Lessig, Lutz Roewer, Rafal Ploski, et al. | |
| 354-364 | Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria | Mary C. O'Driscoll, Sarah B. Daly, Jill E. Urquhart, Graeme C.M. Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada Abdel-Salam, Maha Zaki, Nicole I. Wolf, Roger L. Ladda, Susan Sell, Stefano D'Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow |
| 365-370 | TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy | Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola Vanni, Francesca Madia, Davide De Pietri Tonelli, Fabrizio A. de Falco, Pasquale Striano, Franca Dagna Bricarelli, Carlo Minetti, Fabio Benfenati, Anna Fassio, Federico Zara |
| 371-375 | A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 | Mark A. Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E. Gardner, Karen L. Oliver, Stanley Tan, Amy Coffey, John C. Mulley, Leanne M. Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gecz |
| 376-381 | Nonsense Mutations in FAM161A | Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, Heidi Stöhr, Nela S. Maksimovic, Joseph C. Corbo, Agnes B. Renner, Eberhart Zrenner, Govindasamy Kumaramanickavel, Marcus Karlstetter, Yvan Arsenijevic, Bernhard H.F. Weber, Andreas Gal, Carlo Rivolta |
| 382-391 | Homozygosity Mapping Reveals Null Mutations in FAM161A | Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe'er, Saul Merin, Tamar Ben-Yosef, Ruth Ashery-Padan, Eyal Banin, Dror Sharon |
| 392-399 | Mutations in DHDPSL | Ruth Belostotsky, Eric Seboun, Gregory H. Idelson, Dawn S. Milliner, Rachel Becker-Cohen, Choni Rinat, Carla G. Monico, Sofia Feinstein, Efrat Ben-Shalom, Daniella Magen, Irith Weissman, Celine Charon, Yaacov Frishberg |
| 400-409 | A Mutation in ZNF513 | Lin Li, Naoki Nakaya, Venkata R.M. Chavali, Zhiwei Ma, Xiaodong Jiao, Paul A. Sieving, Sheikh Riazuddin, Stanislav I. Tomarev, Radha Ayyagari, S. Amer Riazuddin, J. Fielding Hejtmancik |
| 410-417 | Mutations in ABHD12 | Torunn Fiskerstrand, Dorra H'mida-Ben Brahim, Stefan Johansson, Abderrahim M'zahem, Bjørn Ivar Haukanes, Nathalie Drouot, Julian Zimmermann, Andrew J. Cole, Christian Vedeler, Cecilie Bredrup, Mirna Assoum, Meriem Tazir, Thomas Klockgether, Abdelmadjid Hamri, Vidar M. Steen, Helge Boman, Laurence A. Bindoff, Michel Koenig, Per M. Knappskog |
| 418-423 | Exome Sequencing Identifies WDR35 | Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner |
| 424-429 | Dominant Mutations in RP1L1 | Masakazu Akahori, Kazushige Tsunoda, Yozo Miyake, Yoko Fukuda, Hiroyuki Ishiura, Shoji Tsuji, Tomoaki Usui, Tetsuhisa Hatase, Makoto Nakamura, Hisao Ohde, Takeshi Itabashi, Haru Okamoto, Yuichiro Takada, Takeshi Iwata |
| 430-435 | A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study | Vijay Panicker, Scott G. Wilson, John P. Walsh, J. Brent Richards, Suzanne J. Brown, John P. Beilby, Alexandra P. Bremner, Gabriela L. Surdulescu, Emad Qweitin, Irina Gillham-Nasenya, Nicole Soranzo, Ee M. Lim, Stephen J. Fletcher, Tim D. Spector |
| 436-444 | Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans | Audrey C. Au, Paolo A. Hernandez, Ernest Lieber, Ali M. Nadroo, Yu-Ming Shen, Kevin A. Kelley, Bruce D. Gelb, George A. Diaz |
| 445 | Targeted Next-Generation Sequencing Appoints C16orf57 | Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabio Macciardi, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza |
| 446 | Genetic Self Knowledge and the Future of Epidemiologic Confounding | Tyler J. VanderWeele |
| 447-448 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 449-450 | This Month in Genetics | Kathryn B. Garber |
| 451-456 | Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law | Jennifer K. Wagner |
| 457-464 | Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III | Trevor J. Pemberton, Chaolong Wang, Jun Z. Li, Noah A. Rosenberg |
| 465-479 | WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome | Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, Reinhard Ullmann, Hyun-Taek Kim, Anita Kulharya, Kyung-Soo Ha, Yasuhide Itokawa, Irene Meliciani, Wolfgang Wenzel, Deresa Lee, Georg Rosenberger, Metin Ozata, David P. Bick, Richard J. Sherins, Takahiro Nagase, Mustafa Tekin, Soo-Hyun Kim, Cheol-Hee Kim, Hans-Hilger Ropers, et al. | |
| 480-493 | Correct mRNA Processing at a Mutant TT Splice Donor in FANCC | Linda Hartmann, Kornelia Neveling, Stephanie Borkens, Hildegard Schneider, Marcel Freund, Elke Grassman, Stephan Theiss, Angela Wawer, Stefan Burdach, Arleen D. Auerbach, Detlev Schindler, Helmut Hanenberg, Heiner Schaal |
| 494-504 | Identification of Copy Number Variation Hotspots in Human Populations | Wenqing Fu, Feng Zhang, Yi Wang, Xun Gu, Li Jin |
| 505-512 | Human Male Infertility Associated with Mutations in NR5A1 | Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radhakrishna, Hassan Rouba, Celia Ravel, Jacob Seeler, John C. Achermann, Ken McElreavey |
| 513-522 | Mutations in the SPTLC2 | Annelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida-Souza, Kim Van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter-Weigel, Wolfgang Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman |
| 523-531 | A Mutation in SLC24A1 | S. Amer Riazuddin, Amber Shahzadi, Christina Zeitz, Zubair M. Ahmed, Radha Ayyagari, Venkata R.M. Chavali, Virgilio G. Ponferrada, Isabelle Audo, Christelle Michiels, Marie-Elise Lancelot, Idrees A. Nasir, Ahmad U. Zafar, Shaheen N. Khan, Tayyab Husnain, Xiaodong Jiao, Ian M. MacDonald, Sheikh Riazuddin, Paul A. Sieving, Nicholas Katsanis, J. Fielding Hejtmancik |
| 532-537 | BMPER | Vincent A. Funari, Deborah Krakow, Lisette Nevarez, Zugen Chen, Tara L. Funari, Nithiwat Vatanavicharn, William R. Wilcox, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn |
| 538-544 | Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy | Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky-Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman-Sagie, Ohad S. Birk |
| 545-552 | Adiponectin Concentrations: A Genome-wide Association Study | Sun Ha Jee, Jae Woong Sull, Jong-Eun Lee, Chol Shin, Jongkeun Park, Heejin Kimm, Eun-Young Cho, Eun-Soon Shin, Ji Eun Yun, Ji Wan Park, Sang Yeun Kim, Sun Ju Lee, Eun Jung Jee, Inkyung Baik, Linda Kao, Sungjoo Kim Yoon, Yangsoo Jang, Terri H. Beaty |
| 553-559 | Mutations in SCARF2 | Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska |
| 560-566 | Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy | Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehlivan, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, James C. Mullikin NISC Comparative Sequencing Program, Leslie G. Biesecker, Thomas E. Wilson, Victor Ionasescu, Garth Nicholson, Charles Searby, Kevin Talbot, Jeffrey M. Vance, Stephan Züchner, Kinga Szigeti, et al. | |
| 567-569 | Exome Sequencing in Brown-Vialetto-Van Laere Syndrome | Janel O. Johnson, J. Raphael Gibbs, Lionel Van Maldergem, Henry Houlden, Andrew B. Singleton |
| 569-570 | Response to Johnson et al. | Dragana Josifova, Matthew Wiseman, Peter Green |
| 571 | FKBP10 | Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S. Alzayed, Fowzan S. Alkuraya |
| 572-573 | Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta | Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, et al. | |
| 575-576 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 577-579 | This Month in Genetics | Kathryn B. Garber |
| 580-592 | Recollections from 60 ASHG Meetings | Bronya J.B. Keats, Terry J. Hassold |
| 593-603 | Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 | Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. Van de Warrenburg, Roman A. Zubarev, Berry Kremer, Pamela E. Knapp, Kurt F. Hauser, Cisca Wijmenga, Fred Nyberg, Richard J. Sinke, Dineke S. Verbeek |
| 604-617 | Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes | Matthew Zawistowski, Shyam Gopalakrishnan, Jun Ding, Yun Li, Sara Grimm, Sebastian Zöllner |
| 618-630 | Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia | Daniel Moreno-De-Luca SGENE Consortium, Jennifer G. Mulle Simons Simplex Collection Genetics Consortium, Erin B. Kaminsky, Stephan J. Sanders GeneSTAR, Scott M. Myers, Margaret P. Adam, Amy T. Pakula, Nancy J. Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie E. Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie A. Demmer, Eva W.C. Chow, Urvashi Surti, Swaroop Aradhya, et al. | |
| 631-642 | A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes | Adam Shlien, Berivan Baskin, Maria Isabel W. Achatz, Dimitrios J. Stavropoulos, Kim E. Nichols, Louanne Hudgins, Chantal F. Morel, Margaret P. Adam, Nataliya Zhukova, Lianne Rotin, Ana Novokmet, Harriet Druker, Mary Shago, Peter N. Ray, Pierre Hainaut, David Malkin |
| 643-654 | Mutations in FLVCR1 | Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Z. Xiang, Maria L. Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. Weleber, Joseph J. Higgins |
| 655-660 | Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia | Andrew H. Crosby, Heema Patel, Barry A. Chioza, Christos Proukakis, Kay Gurtz, Michael A. Patton, Reza Sharifi, Gaurav Harlalka, Michael A. Simpson, Katherine Dick, Johanna A. Reed, Ali Al-Memar, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Robert N. Lightowlers |
| 661-666 | A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases | Joseph T. Glessner, Jonathan P. Bradfield, Kai Wang, Nagahide Takahashi, Haitao Zhang, Patrick M. Sleiman, Frank D. Mentch, Cecilia E. Kim, Cuiping Hou, Kelly A. Thomas, Maria L. Garris, Sandra Deliard, Edward C. Frackelton, F. George Otieno, Jianhua Zhao, Rosetta M. Chiavacci, Mingyao Li, Joseph D. Buxbaum, Robert I. Berkowitz, Hakon Hakonarson, et al. | |
| 667-670 | Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex | Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal-Valevski, Bruria Ben-Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch, William B. Dobyns, Simon Edvardson, Ophry Pines, Orly Elpeleg |
| 671-678 | De Novo Mutations in FOXP1 | Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Ronald G. Lafrenière, Jean-Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H. Beauchamp, Michael S. Phillips, Eric Fombonne, Guy A. Rouleau, Jacques L. Michaud |
| 679-686 | MASP1 | Asli Sirmaci, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezit Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary-Claire King, Mustafa Tekin |
| 687-693 | Mutations in NEXN | Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao Zou, Xiaojian Wang, Xuan Liu, Rutai Hui, Yuxin Fan |
| 694-700 | SOBP | Efrat Birk, Adi Har-Zahav, Chiara M. Manzini, Metsada Pasmanik-Chor, Liora Kornreich, Christopher A. Walsh, Konrad Noben-Trauth, Adi Albin, Amos J. Simon, Laurence Colleaux, Yair Morad, Limor Rainshtein, David J. Tischfield, Peter Wang, Nurit Magal, Idit Maya, Noa Shoshani, Gideon Rechavi, Doron Gothelf, Gal Maydan, et al. | |
| 701-707 | Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections | Li Wang, Dong-chuan Guo, Jiumei Cao, Limin Gong, Kristine E. Kamm, Ellen Regalado, Li Li, Sanjay Shete, Wei-Qi He, Min-Sheng Zhu, Stephan Offermanns, Dawna Gilchrist, John Elefteriades, James T. Stull, Dianna M. Milewicz |
| 708-712 | Fibrochondrogenesis Results from Mutations in the COL11A1 | Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn |
| 713-720 | Hyperchlorhidrosis Caused by Homozygous Mutation in CA12 | Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak Marcus, Daniela Vullo, Hila Romi, Rivka Ofir, Daniel Landau, Sara Sivan, Claudiu T. Supuran, Ohad S. Birk |
| 721-727 | A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia | Lionel Arnaud, Carole Saison, Virginie Helias, Nicole Lucien, Dominique Steschenko, Marie-Catherine Giarratana, Claude Prehu, Bernard Foliguet, Lory Montout, Alexandre G. de Brevern, Alain Francina, Pierre Ripoche, Odile Fenneteau, Lydie Da Costa, Thierry Peyrard, Gail Coghlan, Niels Illum, Henrik Birgens, Hannah Tamary, Achille Iolascon, et al. | |
| 728-735 | To Identify Associations with Rare Variants, Just WHaIT: W | Yun Li, Andrea E. Byrnes, Mingyao Li |
| 736 | Human Male Infertility Associated with Mutations in NR5A1 | Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radhakrishna, Hassan Rouba, Celia Ravel, Jacob Seeler, John C. Achermann, Ken McElreavey |
| 736 | Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 | Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. Van de Warrenburg, Roman A. Zubarev, Berry Kremer, Pamela E. Knapp, Kurt F. Hauser, Cisca Wijmenga, Fred Nyberg, Richard J. Sinke, Dineke S. Verbeek |
| 737-738 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 739-741 | This Month in Genetics | Kathryn B. Garber |
| 742 | The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine | Mark A. DePristo |
| 743-756 | Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections | Siddharth K. Prakash, Scott A. LeMaire, Dong-Chuan Guo, Ludivine Russell, Ellen S. Regalado, Hossein Golabbakhsh, Ralph J. Johnson, Hazim J. Safi, Anthony L. Estrera, Joseph S. Coselli, Molly S. Bray, Suzanne M. Leal, Dianna M. Milewicz, John W. Belmont |
| 757-767 | Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling | Yun Li, Kathrin Laue, Samia Temtamy, Mona Aglan, L. Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma L. Wakeling, Oliver W. Quarrell, Ingelore Baessmann, Matthew B. Lanktree, Mustafa Yilmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloglu, Matthias Hammerschmidt, et al. | |
| 768-778 | Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling | Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F. Nelson, Simon Cool, Osama H. Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade |
| 779-789 | Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis | Jun Ding, Johann E. Gudjonsson, Liming Liang, Philip E. Stuart, Yun Li, Wei Chen, Michael Weichenthal, Eva Ellinghaus, Andre Franke, William Cookson, Rajan P. Nair, James T. Elder, Gonçalo R. Abecasis |
| 790-801 | Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing | Dajiang J. Liu, Suzanne M. Leal |
| 802-812 | Somatic Mutations throughout the Entire Mitochondrial Genome Are Associated with Elevated PSA Levels in Prostate Cancer Patients | Anita Kloss-Brandstätter, Georg Schäfer, Gertraud Erhart, Alexander Hüttenhofer, Stefan Coassin, Christof Seifarth, Monika Summerer, Jasmin Bektic, Helmut Klocker, Florian Kronenberg |
| 813-819 | Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 | Sascha Vermeer, Alexander Hoischen, Rowdy P.P. Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Koenig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, Slobodanka Todorovic, Vedrana Milic-Rasic, Hanns Lochmüller, Giovanni Stevanin, Cyril Goizet, Albert David, Alexandra Durr, Alexis Brice, Berry Kremer, et al. | |
| 820-828 | Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation | Miora Feinstein, Barak Markus, Iris Noyman, Hannah Shalev, Hagit Flusser, Ilan Shelef, Keren Liani-Leibson, Zamir Shorer, Idan Cohen, Shareef Khateeb, Sara Sivan, Ohad S. Birk |
| 829-833 | Population Differences in the Rate of Proliferation of International HapMap Cell Lines | Amy L. Stark, Wei Zhang, Tong Zhou, Peter H. O'Donnell, Christine M. Beiswanger, R. Stephanie Huang, Nancy J. Cox, M. Eileen Dolan |
| 834-841 | Mutation in Exon 1f of PLEC | Hulya Gundesli, Beril Talim, Petek Korkusuz, Burcu Balci-Hayta, Sebahattin Cirak, Nurten A. Akarsu, Haluk Topaloglu, Pervin Dincer |
| 842-847 | Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores | Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, Rachael M. Duff, Munkhuu Bayarsaikhan, Shajia Lu, Laura Gonzalez-Mera, Padma Sivadorai, Kristen J. Nowak, Gianina Ravenscroft, Frank L. Mastaglia, Kathryn N. North, Biljana Ilkovski, Hannie Kremer, Martin Lammens, Baziel G.M. van Engelen, Vicki Fabian, Phillipa Lamont, Mark R. Davis, Nigel G. Laing, et al. | |
| 848-856 | Estimators of the Human Effective Sex Ratio Detect Sex Biases on Different Timescales | Leslie S. Emery, Joseph Felsenstein, Joshua M. Akey |
| 857-865 | Recurrent Distal 7q11.23 Deletion Including HIP1 | Melissa B. Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, Katarzyna E. Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodriguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak-Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda P. Cohen, James McGrath, Elizabeth Roeder, Jennifer Mueller, et al. | |
| 866-872 | PSMB8 | Anil K. Agarwal, Chao Xing, George N. DeMartino, Dario Mizrachi, Maria Dolores Hernandez, Ana Berta Sousa, Laura Martínez de Villarreal, Heloísa G. dos Santos, Abhimanyu Garg |
| 873-881 | Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency | Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frédéric Rieux-Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton, Jean-Laurent Casanova |
| 882-889 | A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts | Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam Ali, Lihadh Al-Gazali, Christopher A. Walsh |
| 890-897 | Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma | Minerva M. Carrasquillo, Alexandra M. Nicholson, NiCole Finch, J. Raphael Gibbs, Matt Baker, Nicola J. Rutherford, Talisha A. Hunter, Mariely DeJesus-Hernandez, Gina D. Bisceglio, Ian R. Mackenzie, Andrew Singleton, Mark R. Cookson, Julia E. Crook, Allissa Dillman, Dena Hernandez, Ronald C. Petersen, Neill R. Graff-Radford, Steven G. Younkin, Rosa Rademakers |
| 898-904 | Mutations in MAP3K1 | Alexander Pearlman, Johnny Loke, Cedric Le Caignec, Stefan White, Lisa Chin, Andrew Friedman, Nicholas Warr, John Willan, David Brauer, Charles Farmer, Eric Brooks, Carole Oddoux, Bridget Riley, Shahin Shajahan, Giovanna Camerino, Tessa Homfray, Andrew H. Crosby, Jenny Couper, Albert David, Andy Greenfield, et al. | |
| 905-914 | Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome | Keith W. McLarren, Tesa M. Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, et al. | |
| 1-2 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 3-5 | This Month in Genetics | Kathryn B. Garber |
| 6-18 | Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height | Matthew B. Lanktree, Yiran Guo, Muhammed Murtaza, Joseph T. Glessner, Swneke D. Bailey, N. Charlotte Onland-Moret, Guillaume Lettre, Halit Ongen, Ramakrishnan Rajagopalan, Toby Johnson, Haiqing Shen, Christopher P. Nelson, Norman Klopp, Jens Baumert, Sandosh Padmanabhan, Nathan Pankratz, James S. Pankow, Sonia Shah, Kira Taylor, John Barnard, et al. | |
| 19-29 | Functional Null Mutations of MSRB3 | Zubair M. Ahmed, Rizwan Yousaf, Byung Cheon Lee, Shaheen N. Khan, Sue Lee, Kwanghyuk Lee, Tayyab Husnain, Atteeq Ur Rehman, Sarah Bonneux, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal, Vadim N. Gladyshev, Inna A. Belyantseva, Guy Van Camp, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin |
| 30-41 | SMOC1 | Ippei Okada, Haruka Hamanoue, Koji Terada, Takaya Tohma, Andre Megarbane, Eliane Chouery, Joelle Abou-Ghoch, Nadine Jalkh, Ozgur Cogulu, Ferda Ozkinay, Kyoji Horie, Junji Takeda, Tatsuya Furuichi, Shiro Ikegawa, Kiyomi Nishiyama, Satoko Miyatake, Akira Nishimura, Takeshi Mizuguchi, Norio Niikawa, Fumiki Hirahara, et al. | |
| 42-56 | A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands | Min-Han Tan, Jessica Mester, Charissa Peterson, Yiran Yang, Jin-Lian Chen, Lisa A. Rybicki, Kresimira Milas, Holly Pederson, Berna Remzi, Mohammed S. Orloff, Charis Eng |
| 57-69 | Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records | Fina Kurreeman, Katherine Liao, Lori Chibnik, Brendan Hickey, Eli Stahl, Vivian Gainer, Gang Li, Lynn Bry, Scott Mahan, Kristin Ardlie, Brian Thomson, Peter Szolovits, Susanne Churchill, Shawn N. Murphy, Tianxi Cai, Soumya Raychaudhuri, Isaac Kohane, Elizabeth Karlson, Robert M. Plenge |
| 70-75 | Copy-Number Variations Involving the IHH | Eva Klopocki, Silke Lohan, Francesco Brancati, Randi Koll, Anja Brehm, Petra Seemann, Katarina Dathe, Sigmar Stricker, Jochen Hecht, Kristin Bosse, Regina C. Betz, Francesco Giuseppe Garaci, Bruno Dallapiccola, Mahim Jain, Maximilian Muenke, Vivian C.W. Ng, Wilson Chan, Danny Chan, Stefan Mundlos |
| 76-82 | GCTA: A Tool for Genome-wide Complex Trait Analysis | Jian Yang, S. Hong Lee, Michael E. Goddard, Peter M. Visscher |
| 83-91 | Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX | Christopher J. Lessard, Indra Adrianto, Jennifer A. Kelly, Kenneth M. Kaufman, Kiely M. Grundahl, Adam Adler, Adrienne H. Williams, Caroline J. Gallant Marta E. Alarcón-Riquelme on behalf of the BIOLUPUS and GENLES Networks, Juan-Manuel Anaya, Sang-Cheol Bae, Susan A. Boackle, Elizabeth E. Brown, Deh-Ming Chang, Lindsey A. Criswell, Jeffrey C. Edberg, Barry I. Freedman, Peter K. Gregersen, Gary S. Gilkeson, Chaim O. Jacob, Judith A. James, et al. | |
| 92-98 | Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1 | Hana Abouzeid, Gaëlle Boisset, Tatiana Favez, Mohamed Youssef, Iman Marzouk, Nihal Shakankiry, Nader Bayoumi, Patrick Descombes, Céline Agosti, Francis L. Munier, Daniel F. Schorderet |
| 99-105 | Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 | Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas R. Janecke, Craig Blackstone, Michaela Auer-Grumbach |
| 106-114 | NEK1 | Christian Thiel, Kristin Kessler, Andreas Giessl, Arno Dimmler, Stavit A. Shalev, Sigrun von der Haar, Martin Zenker, Diana Zahnleiter, Hartmut Stöss, Ernst Beinder, Rami Abou Jamra, Arif B. Ekici, Nadja Schröder-Kreß, Thomas Aigner, Thomas Kirchner, André Reis, Johann H. Brandstätter, Anita Rauch |
| 115-120 | Mutations in the 5′ UTR of ANKRD26, | Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol-Moix, Patrizia Noris, Giovanni Castegnaro, Alessandro Pecci, Chiara Gnan, Francesca Punzo, Caterina Marconi, Samuele Gherardi, Giuseppe Loffredo, Daniela De Rocco, Saverio Scianguetta, Serena Barozzi, Pamela Magini, Valeria Bozzi, Luca Dezzani, Mariateresa Di Stazio, Marcella Ferraro, et al. | |
| 121 | Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia | Daniel Moreno-De-Luca SGENE Consortium, Jennifer G. Mulle Simons Simplex Collection Genetics Consortium, Erin B. Kaminsky, Stephan J. Sanders GeneSTAR, Scott M. Myers, Margaret P. Adam, Amy T. Pakula, Nancy J. Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie E. Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie A. Demmer, Eva W.C. Chow, Urvashi Surti, Swaroop Aradhya, et al. | |
| 122 | Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores | Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, Rachael M. Duff, Munkhuu Bayarsaikhan, Shajia Lu, Laura Gonzalez-Mera, Padma Sivadorai, Kristen J. Nowak, Gianina Ravenscroft, Frank L. Mastaglia, Kathryn N. North, Biljana Ilkovski, Hannie Kremer, Martin Lammens, Baziel G.M. van Engelen, Vicki Fabian, Phillipa Lamont, Mark R. Davis, Nigel G. Laing, et al. | |
| 122 | To Identify Associations with Rare Variants, Just WHaIT: W | Yun Li, Andrea E. Byrnes, Mingyao Li |
| 123-124 | This Month in The Journal | Kathryn D. Bungartz, Robin E. Williamson |
| 125-126 | This Month in Genetics | Kathryn B. Garber |
| 127-137 | Loss-of-Function Mutations of ILDR1 | Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S. Shaikh, Rana A. Ali, et al. | |
| 138-149 | Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans | Hirotaka Tao, J. Robert Manak, Levi Sowers, Xue Mei, Hiroshi Kiyonari, Takaya Abe, Nader S. Dahdaleh, Tian Yang, Shu Wu, Shan Chen, Mark H. Fox, Christina Gurnett, Thomas Montine, Thomas Bird, Lisa G. Shaffer, Jill A. Rosenfeld, Juliann McConnell, Suneeta Madan-Khetarpal, Elizabeth Berry-Kravis, Hilary Griesbach, et al. | |
| 150-161 | FAF1, | Michella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, Filip Claes, Odile Boute, Bénédicte Bayet, Philippe Pellerin, Karlien Hermans, Liesbeth Backx, Maria Adela Mansilla, Sandra Imoehl, Stefanie Nowak, Kerstin U. Ludwig, Carlotta Baluardo, Melissa Ferrian, Peter A. Mossey, Markus Noethen, Mieke Dewerchin, Geneviève François, Nicole Revencu, et al. | |
| 162-172 | Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect | Jan Senderek, Juliane S. Müller, Marina Dusl, Tim M. Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H. Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J. Vilchez, Jaume Colomer, Cecilia Jimenez Mallebrera, Andres Nascimento, Shahriar Nafissi, Ariana Kariminejad, Yalda Nilipour, Bita Bozorgmehr, Hossein Najmabadi, et al. | |
| 173-182 | A Fast, Powerful Method for Detecting Identity by Descent | Brian L. Browning, Sharon R. Browning |
| 183-192 | Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy | Daniel M. Jordan, Adam Kiezun, Samantha M. Baxter, Vineeta Agarwala, Robert C. Green, Michael F. Murray, Trevor Pugh, Matthew S. Lebo, Heidi L. Rehm, Birgit H. Funke, Shamil R. Sunyaev |
| 193-200 | Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome | Ruth Belostotsky, Efrat Ben-Shalom, Choni Rinat, Rachel Becker-Cohen, Sofia Feinstein, Sharon Zeligson, Reeval Segel, Orly Elpeleg, Suheir Nassar, Yaacov Frishberg |
| 201-206 | Whole-Exome Sequencing Links a Variant in DHDDS | Stephan Züchner, Julia Dallman, Rong Wen, Gary Beecham, Adam Naj, Amjad Farooq, Martin A. Kohli, Patrice L. Whitehead, William Hulme, Ioanna Konidari, Yvonne J.K. Edwards, Guiqing Cai, Inga Peter, David Seo, Joseph D. Buxbaum, Jonathan L. Haines, Susan Blanton, Juan Young, Eduardo Alfonso, Jeffery M. Vance, et al. | |
| 207-215 | A Missense Mutation in DHDDS | Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi-Meissonnier, Avigail Beryozkin, Dikla Bandah-Rozenfeld, Shahar Frenkel, Tamar Ben-Yosef, Saul Merin, Sharon B. Schwartz, Artur V. Cideciyan, Samuel G. Jacobson, Dror Sharon |
| 216-225 | Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency | Siddharth Banka, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian I. Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman |
| 226-231 | Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR | Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo Smulders, Klaus Schwarz |
| 232-238 | Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila | Joshua M. Shulman, Portia Chipendo, Lori B. Chibnik, Cristin Aubin, Dong Tran, Brendan T. Keenan, Patricia L. Kramer, Julie A. Schneider, David A. Bennett, Mel B. Feany, Philip L. De Jager |
| 239-247 | Ancient Voyaging and Polynesian Origins | Pedro Soares, Teresa Rito, Jean Trejaut, Maru Mormina, Catherine Hill, Emma Tinkler-Hundal, Michelle Braid, Douglas J. Clarke, Jun-Hun Loo, Noel Thomson, Tim Denham, Mark Donohue, Vincent Macaulay, Marie Lin, Stephen Oppenheimer, Martin B. Richards |