| | Other Issues: previous | next | latest | archiveEditors' Corner This Month in the Journal Robin E. Williamson PMCID: PMC2253969 This Month in Genetics Kathryn B. Garber PMCID: PMC2253981 Book Review Resuscitation and Evolution of a Classic Reed E. Pyeritz PMCID: PMC2253979 Commentary Unraveling Autism Dietrich A. Stephan PMCID: PMC2253980 Perspectives in Human Genetics Canine Behavioral Genetics: Pointing Out the Phenotypes and Herding up the Genes Tyrone C. Spady and Elaine A. Ostrander PMCID: PMC2253978 Articles Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans 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, and Graeme C.M. Black PMCID: PMC2253971 C6ORF66 Is an Assembly Factor of Mitochondrial Complex I Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, and Orly Elpeleg PMCID: PMC2253982 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, and Eli Sprecher PMCID: PMC2253972 A Statistical Method for Predicting Classical HLA Alleles from SNP Data Stephen Leslie, Peter Donnelly, and Gil McVean PMCID: PMC2253983 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, Jesper Troelsen, and Leena Peltonen PMCID: PMC2253962 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, and John A. McGrath PMCID: PMC2253984 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, and Elad Ziv PMCID: PMC2253985 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, and Stefan Quasthoff PMCID: PMC2253986 Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms Ivan P. Gorlov, Olga Y. Gorlova, Shamil R. Sunyaev, Margaret R. Spitz, and Christopher I. Amos PMCID: PMC2253956 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, and Hubert de Verneuil PMCID: PMC2253957 Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35 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, Cor W.R.J. Cremers, Ahmet Karaguzel, Wasim Ahmad, Frans P.M. Cremers, Gert Vriend, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, and Hannie Kremer PMCID: PMC2253958 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, Mark J. Caulfield, and Patricia B. Munroe PMCID: PMC2253977 Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene 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, and Daniel H. Geschwind PMCID: PMC2253955 Reports A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism 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., and Aravinda Chakravarti PMCID: PMC2253968 Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders 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, and Matthew W. State PMCID: PMC2253974 Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V. Sergeev, Xiaoyan Ding, Anil K. Sharma, Chi-Chao Chan, Igor Medina, and Albert O. Edwards PMCID: PMC2253967 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, and Joris Robert Vermeesch PMCID: PMC2253954 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, and Lisa Baumbach-Reardon PMCID: PMC2253959 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, and Mark Stoneking PMCID: PMC2253960 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, David L. Pauls, Mark J. Daly, Marcy E. MacDonald, Cynthia C. Morton, Bradley J. Quade, and James F. Gusella PMCID: PMC2253961 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, and Michio Hirano PMCID: PMC2253963 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, and Ankita Patel PMCID: PMC2253964 Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, and Eamonn R. Maher PMCID: PMC2253973 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, and Douglass M. Turnbull PMCID: PMC2253975 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, and Richard Villems PMCID: PMC2253976 Announcement Am J Hum Genet. 2008 January 10; 82(1): 252–255. Published online 2008 January 4. doi: 10.1016/j.ajhg.2007.12.006.PMCID: PMC2253966 Errata Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan, Julian Solway, James E. Gern, Robert F. Lemanske, Dan Nicolae, and Carole Ober PMCID: PMC2253970 Corrects:Zheng Tan, et al. Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma. Am J Hum Genet. 2008 January 10; 82(1): 252–255. 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, and Alexander P. Reiner PMCID: PMC2253965 Corrects:Christopher S. Carlson, et al. Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels. Am J Hum Genet. 2008 January 10; 82(1): 252–255. |
