AJHG Preprints

Preprints of Recently Accepted Manuscripts
Preprints are unedited versions of articles accepted for publication; they are likely to differ from the final, published versions. Preprints are made available only with the consent of the authors.
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All available preprints (60 articles)
Highly sensitive method for genome-wide detection of allelic composition in non-paired, primary tumor specimens using Affymetrix(R) SNP 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, and Seishi Ogawa
Accepted April 12, 2007
» Preprint PDF (717 Kb)
Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signalling
Mark O’Driscoll, William B. Dobyns, Johanna M. van Hagen and Penny A. Jeggo
Accepted April 5, 2007
» Preprint PDF (568 Kb)
Identification of Risk-related Haplotypes Using Multiple SNPs from Nuclear Families
Min Shi, PhD, David M. Umbach, PhD, Clarice R. Weinberg, PhD
Accepted April 3, 2007
» Preprint PDF (660 Kb)
Evidence for 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 and Willie J. Swanson
Accepted April 2, 2007
» Preprint PDF (391 Kb)
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state
Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter and Evgeny I. Rogaev
Accepted March 30, 2007
» Preprint PDF (896 Kb)
Correlation of Intergenerational Family Sizes Suggests a Genetic Component to Reproductive Fitness
Anna Pluzhnikov, Daniel K. Nolan, Zhiqiang Tan, Mary Sara McPeek, and Carole Ober
Accepted March 27, 2007
» Preprint PDF (246 Kb)
A genome-wide screen for late onset Alzheimer’s 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
Accepted March 27, 2007
» Preprint PDF (1.9 Mb)
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, Klaus Zerres, Vincent Timmerman, João B. Relvas, Jan Senderek
Accepted March 26, 2007
» Preprint PDF (709 Kb)
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
Accepted March 23, 2007
» Preprint PDF (724 Kb)
Defining the cause of skewed X chromosome inactivation in X-linked mental retardation using 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 and Richard J. Gibbons
Accepted March 22, 2007
» Preprint PDF (473 Kb)
Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals
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 and Timothy M. Frayling
Accepted March 22, 2007
» Preprint PDF (254 Kb)
A common haplotype in the G-protein coupled receptor GPR74 is associated with leanness and increased lipolysis
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
Accepted March 21, 2007
» Preprint PDF (318 Kb)
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, and Ming D. Li
Accepted March 21, 2007
» Preprint PDF (332 Kb)
Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia
Neil J Risch PhD, Susan B Bressman MD, Geetha Senthil PhD, Laurie J Ozelius PhD
Accepted March 21, 2007
» Preprint PDF (186 Kb)
IRAK-M is involved in the pathogenesis of early-onset persistent asthma
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, Enrico Giua, Natalina Graziella Cadeddu, Roberto Atzeni, Umberto Pelosi, Adriano Corrias, Roberto Perra, Pier Luigi Torrazza, Pietro Pirina, Francesco Ginesu, Silvano Marcias, Maria Grazia Schintu, Gennaro Sergio Del Giacco, Paolo Emilio Manconi, Giovanni Malerba, Andrea Bisognin, Elisabetta Trabetti, Attilio Boner, Lydia Pescollderungg, Pier Franco Pignatti, David Schlessinger, Antonio Cao and Giuseppe Pilia
Accepted March 20, 2007
» Preprint PDF (966 Kb)
A mutation in CCDC50, a gene encoding an effector of EGF-mediated cell signalling, causes progressive hearing loss
Silvia Modamio-Høybjør, Ángeles Mencía, Richard Goodyear, Ignacio del Castillo, Guy Richardson, Felipe Moreno, and Miguel Ángel Moreno-Pelayo
Accepted March 16, 2007
» Preprint PDF (2.7 Mb)
The Homozygosity haplotype allows a genome-wide search for the autosomal segments shared among disease patients
Hitoshi Miyazawa, Masaaki Kato, Takuya Awata, Masakazu Kohda, Hiroyasu Iwasa, Nobuyuki Koyama, Tomoaki Tanaka, Huqun, Shunei Kyo, Yasushi Okazaki and Koichi Hagiwara
Accepted March 16, 2007
» Preprint PDF (1018 Kb)
Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Non-syndromic Enlargement of Vestibular Aqueduct (DFNB4)
Tao Yang, Hilmar Vidarsson, Sandra Rodrigo-Blomqvist, Sally S. Rosengren, Sven Enerbäck, and Richard J.H. Smith
Accepted March 15, 2007
» Preprint PDF (653 Kb)
Mutations in FGD4 encoding the Rho GDP/GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
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 and Nicolas Lévy
Accepted March 15, 2007
» Preprint PDF (854 Kb)
RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity
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, and Andrew O. M. Wilkie
Accepted March 8, 2007
» Preprint PDF (2.0 Mb)
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, High Copy Number Is a Protective Factor against, European American SLE Disease Susceptibility
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. Roubey, Jennifer M. Grossman, Betty P. Tsao, Daniel J. Birmingham, Brad H. Rovin, Lee A. Hebert, and C. Yung Yu
Accepted March 7, 2007
» Preprint PDF (706 Kb)
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
Accepted February 7, 2007
» Preprint PDF (321 Kb)
A Genome-Wide SNP 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, and Michael F. Seldin
Accepted February 2, 2007
» Preprint PDF (291 Kb)
Erratum to "Seemingly neutral polymorphic variants may confer immunity to splicing inactivating mutations - a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer" published in: Am J Hum Genet 80(3)
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 and Brage Storstein Andresen
Accepted February 1, 2007
» Preprint PDF (58 Kb)
Admixture mapping of an allele affecting soluble IL6 receptor and IL6 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 Y. Kwok, Tamara Harris, Joseph M. Zmuda and Elad Ziv for the Health ABC Study
Accepted January 29, 2007
» Preprint PDF (676 Kb)
Germline mutation of INI1/SMARCB1 in familial schwannomatosis
Theo J.M. Hulsebos, Astrid S. Plomp, Ruud A. Wolterman, Els C. Robanus-Maandag, Frank Baas, and Pieter Wesseling
Accepted January 29, 2007
» Preprint PDF (396 Kb)
The Transcription Factor SIX5 is Mutated in Patients with Branchio-Oto-Renal Syndrome
Bethan E. Hoskins, Carl H. Cramer II, 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
Accepted January 25, 2007
» Preprint PDF (244 Kb)
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
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 PVM de Jong, Sally A Feather, Adrian S Woolf, Yi Rao, James R Lupski, Michael R. Eccles, Bradley J Quade, James F Gusella, Cynthia C Morton and Richard L Maas
Accepted January 15, 2007
» Preprint PDF (1.2 Mb)
Efficient Association Mapping of Quantitative Trait Loci With Selective Genotyping
B. E. Huang and D. Y. Lin
Accepted January 9, 2007
» Preprint PDF (207 Kb)
On the Use of Inferred Haplotypes in Downstream Analyses
D. Y. Lin and B. E. Huang
Accepted December 21, 2006
» Preprint PDF (69 Kb)
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1 - not all null alleles are alike
Jiong Yan, Weimin Bi, James R. Lupski
Accepted December 19, 2006
» Preprint PDF (256 Kb)
Seemingly neutral polymorphic variants may confer immunity to splicing inactivating mutations - a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
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 and Brage Storstein Andresen
Accepted December 19, 2006
» Preprint PDF (1.1 Mb)
Human TBX1 missense mutations cause gain-of-function resulting in the same phenotype as 22q11.2 deletions
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E. Campbell, Anita Rauch
Accepted December 18, 2006
» Preprint PDF (395 Kb)
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 Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz
Accepted December 13, 2006
» Preprint PDF (4.0 Mb)
Mutations in CUL4B, encoding a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus and tremor
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, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Susan Holder, Sarah F Smithson, Jane A Hurst, Jill Clayton-Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F. Easton, Richard Wooster, Martin Bobrow, Anand K. Srivastava, Roger E. Stevenson, Charles E. Schwartz, Gillian Turner, Jozef Gecz, P Andrew Futreal, Michael R Stratton, Michael Partington
Accepted November 20, 2006
» Preprint PDF (494 Kb)
Associating mitochondrial DNA variation with complex traits
Joanna L Elson, Kari Majamaa, Neil Howell, Patrick F. Chinnery
Accepted November 14, 2006
» Preprint PDF (301 Kb)
Identification of the genetic basis for complex disorders using pooling-based genome-wide SNP association studies
John V. Pearson, Matthew J. Huentelman, Rebecca F. Halperin, Waibhav D. Tembe, Stacey Melquist, Nils Homer, Marcel Brun, Szabolics 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, Andreas Papassotiropoulos, Michael L. Hutton, Dietrich A. Stephan, David W. Craig
Accepted November 7, 2006
» Preprint PDF (631 Kb)
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
Accepted October 31, 2006
» Preprint PDF (289 Kb)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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 and Tania Attié-Bitach
Accepted October 30, 2006
» Preprint PDF (902 Kb)
An Evaluation of Power and Type I Error of Single SNP Transmission Disequilibrium Based Statistical Methods under Varying Family Structures, Missing Parental Data and Population Stratification
Kristin K. Nicodemus, Augustin Luna, Yin Yao Shugart
Accepted October 25, 2006
» Preprint PDF (131 Kb)
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
Accepted October 25, 2006
» Preprint PDF (545 Kb)
Infantile encephalopathy and defective mtDNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EF-Tu
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
Accepted October 25, 2006
» Preprint PDF (962 Kb)
Deletions in CCM2 are a common cause of cerebral cavernous malformations
Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk
Accepted October 25, 2006
» Preprint PDF (370 Kb)
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, and John Blangero
Accepted October 24, 2006
» Preprint PDF (267 Kb)
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
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 and Alan H. Beggs
Accepted October 23, 2006
» Preprint PDF (1.3 Mb)
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
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 JL de Ravel, Richard Alan Lewis, Christelle Thibault, Jean-Marc Danse, Alain Verloes, Dominique Bonneau, Nicholas Katsanis, Olivier Poch, Jean-Louis Mandel and Hélène Dollfus
Accepted October 17, 2006
» Preprint PDF (732 Kb)
Functional variants in the promoter region of chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia
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, David St. Clair and Lin He
Accepted October 17, 2006
» Preprint PDF (329 Kb)
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, Bert Glader, Karen Backer, Carolyn Wong, David G. Nathan, Alan H. Beggs and Colin A. Sieff
Accepted October 6, 2006
» Preprint PDF (1.2 Mb)
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
Luis Carlos López, Markus Schuelke, Catarina M. Quinzii, Tomotake Kanki, Richard J.T. Rodenburg, Ali Naini, Salvatore DiMauro, and Michio Hirano
Accepted October 6, 2006
» Preprint PDF (337 Kb)
Powerful multi-locus tests for genetic association in the presence of gene-gene and gene-environment interactions
Nilanjan Chatterjee, Zeynep Kalaylioglu, Roxana Moslehi, Ulrike Peters, Sholom Wacholder
Accepted September 22, 2006
» Preprint PDF (287 Kb)
Mutations in the desmosomal gene desmocollin-2 associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy
Petros Syrris, Deirdre Ward, Alison Evans, Angeliki Asimaki, Estelle Gandjbakhch, Srijita Sen-Chowdhry, and William J. McKenna
Accepted September 6, 2006
» Preprint PDF (242 Kb)
Mutation Positive and Mutation Negative Cowden and Bannayan-Riley-Ruvalcaba Syndrome Patients Associated with Distinct 10q-Haplotypes
Marcus G. Pezzolesi, Yan Li, Xiao-Ping Zhou, Robert Pilarski, Lei Shen, and Charis Eng
Accepted September 5, 2006
» Preprint PDF (502 Kb)
Mutation in the Auxiliary Calcium Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy
K. A. Wycisk, C. Zeitz, S. Feil, M. Wittmer, U. Forster, J. Neidhardt, Bernd Wissinger, E. Zrenner, R. Wilke, S. Kohl, W. Berger
Accepted September 5, 2006
» Preprint PDF (456 Kb)
Absence of a paternally-inherited FOXP2 gene in Developmental Verbal Dyspraxia
Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Malgorzata 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, Juha Kere, Stephen W. Scherer, and Katariina Hannula-Jouppi
Accepted September 4, 2006
» Preprint PDF (295 Kb)
Mapping Trait Loci using Inferred Ancestral Recombination Graphs
Mark J. Minichiello and Richard Durbin
Accepted September 1, 2006
» Preprint PDF (307 Kb)
Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations to schizophrenia
Mousumi Mutsuddi, Derek W. Morris, Skye G. Waggoner, Mark J. Daly, Edward M. Scolnick, Pamela Sklar
Accepted August 30, 2006
» Preprint PDF (1013 Kb)
What is FASEB, anyway?
Joann A. Boughman, PhD
Accepted August 29, 2006
» Preprint PDF (62 Kb)
A chromosomal rearrangement hotspot can be identified from population genetic variation, and is co-incident with a hotspot for allelic recombination
Sarah J. Lindsay, Mehrdad Khajavi, James R. Lupski, Matthew E. Hurles
Accepted August 22, 2006
» Preprint PDF (612 Kb)
Erratum to "Peters’ Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase" published in: Am J Hum Genet 79(3):562-566
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
Accepted August 15, 2006
» Preprint PDF (58 Kb)
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Reha M. Toydemir, Anna E. Brassington, Pinar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, & Michael J. Bamshad
Accepted August 10, 2006
» Preprint PDF (916 Kb)



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