Latest Articles
The American Journal of Human Genetics publishes articles here prior to final publication in an issue. The articles have been copyedited and incorporate the authors final corrections. Please cite articles using the format: authors, (year), title, journal, DOI.
Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
Yimin Hua, Timothy A. Vickers, Hazeem L. Okunola, C. Frank Bennett, Adrian R. Krainer
10.1016/j.ajhg.2008.01.014
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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
10.1016/j.ajhg.2008.02.007
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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
10.1016/j.ajhg.2008.02.012
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Walking the Interactome for Prioritization of Candidate Disease Genes
Sebastian Kohler, Sebastian Bauer, Denise Horn, Peter N. Robinson
10.1016/j.ajhg.2008.02.013
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A Bayesian Evaluation of Human Mitochondrial Substitution Rates
Phillip Endicott, Simon Y.W. Ho
10.1016/j.ajhg.2008.01.019
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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, The Genographic Consortium
10.1016/j.ajhg.2008.01.020
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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 Bruchle, Valeska Frank, Heike Olbrich, Jan Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kranzlin, Gudrun Nurnberg, Christian Becker, Tiemo Grimm, Gundula Girschick, Sally A. Lynch, Peter Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, Peter Nurnberg, Norbert Gretz, Cecilia Lo, Soeren Lienkamp, Tobias Schafer, Gerd Walz, Thomas Benzing, Klaus Zerres, Heymut Omran
10.1016/j.ajhg.2008.02.017
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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Marten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjoholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins, Jozef Gecz, Gillian Turner, F. Lucy Raymond, Charles Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Stromme
10.1016/j.ajhg.2008.01.013
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Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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 Kampjarvi, Heli Nevanlinna, Jacques Simard, Jonathan Beesley, Xiaoqing Chen, Susan L. Neuhausen, Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Claudine Isaacs, Jeffrey Weitzel, Patricia A. Ganz, Mary B. Daly, Gail Tomlinson, Olufunmilayo I. Olopade, Joanne L. Blum, Fergus J. Couch, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Paolo Radice, Csilla I. Szabo, Lutecia H. Mateus Pereira, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Ofra Barnett-Griness, Irene L. Andrulis, Hilmi Ozcelik, Anne-Marie Gerdes, Maria A. Caligo, Yael Laitman, Bella Kaufman, Roni Milgrom, Eitan Friedman, Susan M. Domchek, Katherine L. Nathanson, Ana Osorio, Gemma Llort, Roger L. Milne, Javier Benitez, Ute Hamann, Frans B.L. Hogervorst, Peggy Manders, Marjolijn J.L. Ligtenberg, Ans M.W. van den Ouweland, Susan Peock, Margaret Cook, Radka Platte, D. Gareth Evans, Rosalind Eeles, Gabriella Pichert, Carol Chu, Diana Eccles, Rosemarie Davidson, Fiona Douglas, Andrew K. Godwin, Laure Barjhoux, Sylvie Mazoyer, Hagay Sobol, Violaine Bourdon, Francois Eisinger, Agnes Chompret, Corinne Capoulade, Brigitte Bressac-de Paillerets, Gilbert M. Lenoir, Marion Gauthier-Villars, Claude Houdayer, Dominique Stoppa-Lyonnet, Georgia Chenevix-Trench, Douglas F. Easton
10.1016/j.ajhg.2008.02.008
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SNP Arrays in Heterogeneous Tissue: Highly Accurate Collection of Both Germline and Somatic Genetic Information from Unpaired Single Tumor Samples
Guillaume Assie, Thomas LaFramboise, Petra Platzer, Jerome Bertherat, Constantine A. Stratakis, Charis Eng
10.1016/j.ajhg.2008.01.012
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Analysis of Genomic Admixture in Uyghur and Its Implication in Mapping Strategy
Shuhua Xu, Wei Huang, Ji Qian, Li Jin
10.1016/j.ajhg.2008.01.017
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Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
Corinne Lautier, Stefano Goldwurm, Alexandra Durr, Barbara Giovannone, William G. Tsiaras, Gianni Pezzoli, Alexis Brice, Robert J. Smith
10.1016/j.ajhg.2008.01.015
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