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Editors' Corner This Month in The Journal Kathryn D. Bungartz and Robin E. Williamson Am J Hum Genet. 2010 February 12; 86(2): 103–104. doi: 10.1016/j.ajhg.2010.01.018.PMCID: PMC2820175 This Month in Genetics Kathryn B. Garber Am J Hum Genet. 2010 February 12; 86(2): 105–107. doi: 10.1016/j.ajhg.2010.01.019.PMCID: PMC2820180 Book Review Genetic Dilemmas and the Right to an Open Future Annelien Bredenoord Am J Hum Genet. 2010 February 12; 86(2): 108. doi: 10.1016/j.ajhg.2010.01.004.PMCID: PMC2820191 Commentary Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS Benjamin Tycko Am J Hum Genet. 2010 February 12; 86(2): 109–112. doi: 10.1016/j.ajhg.2010.01.021.PMCID: PMC2820186 Articles 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, and Danielle Posthuma Am J Hum Genet. 2010 February 12; 86(2): 113–125. doi: 10.1016/j.ajhg.2009.12.006.PMCID: PMC2820181 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, and Anders Aspberg Am J Hum Genet. 2010 February 12; 86(2): 126–137. doi: 10.1016/j.ajhg.2009.12.018.PMCID: PMC2820178 Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment 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, and Hannie Kremer Am J Hum Genet. 2010 February 12; 86(2): 138–147. doi: 10.1016/j.ajhg.2009.12.017.PMCID: PMC2820176 Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse 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, and David C. Kohrman Am J Hum Genet. 2010 February 12; 86(2): 148–160. doi: 10.1016/j.ajhg.2010.01.016.PMCID: PMC2820167 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, Andrew J. Pakstis, Judith R. Kidd, and Kenneth K. Kidd Am J Hum Genet. 2010 February 12; 86(2): 161–171. doi: 10.1016/j.ajhg.2010.01.007.PMCID: PMC2820164 ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure Timothy Thornton and Mary Sara McPeek Am J Hum Genet. 2010 February 12; 86(2): 172–184. doi: 10.1016/j.ajhg.2010.01.001.PMCID: PMC2820184 Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly 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, Arjan P.M. de Brouwer, Daniela Toniolo, and Patrizia D'Adamo Am J Hum Genet. 2010 February 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011.PMCID: PMC2820185 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, and Jonathan Mill Am J Hum Genet. 2010 February 12; 86(2): 196–212. doi: 10.1016/j.ajhg.2010.01.014.PMCID: PMC2820163 Reports 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, and Bernard Brais Am J Hum Genet. 2010 February 12; 86(2): 213–221. doi: 10.1016/j.ajhg.2009.12.013.PMCID: PMC2820170 Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia 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, and Hanna T. Gazda Am J Hum Genet. 2010 February 12; 86(2): 222–228. doi: 10.1016/j.ajhg.2009.12.015.PMCID: PMC2820177 Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies 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, L. Adrienne Cupples, Serkalem Demissie, Unnur Styrkarsdottir, Bjarni V. Halldorsson, Gunnar Sigurdsson, Unnur Thorsteinsdottir, Kari Stefansson, J. Brent Richards, Guangju Zhai, Nicole Soranzo, Ana Valdes, Tim D. Spector, and Pak C. Sham Am J Hum Genet. 2010 February 12; 86(2): 229–239. doi: 10.1016/j.ajhg.2009.12.014.PMCID: PMC2820171 Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy 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, and Rob W.J. Collin Am J Hum Genet. 2010 February 12; 86(2): 240–247. doi: 10.1016/j.ajhg.2009.12.016.PMCID: PMC2820179 Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy 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, and Carmel Toomes Am J Hum Genet. 2010 February 12; 86(2): 248–253. doi: 10.1016/j.ajhg.2010.01.012.PMCID: PMC2820188 Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome 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, Sara A. Courtneidge, and Hans van Bokhoven Am J Hum Genet. 2010 February 12; 86(2): 254–261. doi: 10.1016/j.ajhg.2010.01.009.PMCID: PMC2820172 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, and Johan P. de Winter Am J Hum Genet. 2010 February 12; 86(2): 262–266. doi: 10.1016/j.ajhg.2010.01.008.PMCID: PMC2820174 Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, and Tim M. Strom Am J Hum Genet. 2010 February 12; 86(2): 267–272. doi: 10.1016/j.ajhg.2010.01.006.PMCID: PMC2820166 Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, and Ruti Parvari Am J Hum Genet. 2010 February 12; 86(2): 273–278. doi: 10.1016/j.ajhg.2010.01.010.PMCID: PMC2820183 Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome 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, and Reiner Siebert Am J Hum Genet. 2010 February 12; 86(2): 279–284. doi: 10.1016/j.ajhg.2010.01.013.PMCID: PMC2820190 Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene 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, Stephen L. Hauser, Ludwig Kappos, Chris Polman, Philip L. De Jager, David A. Hafler, Mark J. Daly, Aarno Palotie, Janna Saarela, and Leena Peltonen Am J Hum Genet. 2010 February 12; 86(2): 285–291. doi: 10.1016/j.ajhg.2010.01.017.PMCID: PMC2820168 Letters to the Editor No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation Aimee S. Payne Am J Hum Genet. 2010 February 12; 86(2): 292. doi: 10.1016/j.ajhg.2009.09.021.PMCID: PMC2820169 Response to Payne Wasim Ahmad Am J Hum Genet. 2010 February 12; 86(2): 292. doi: 10.1016/j.ajhg.2010.01.015.PMCID: PMC2820173 Announcement Am J Hum Genet. 2010 February 12; 86(2): 296. doi: 10.1016/j.ajhg.2010.01.024.PMCID: PMC2820165 Errata Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa 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, and Rui Chen Am J Hum Genet. 2010 February 12; 86(2): 293. doi: 10.1016/j.ajhg.2010.01.002.PMCID: PMC2820187 Corrects: Hui Wang, et al. Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa. Am J Hum Genet. 2009 March 13; 84(3): 380–387. Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, and Orly Elpeleg Am J Hum Genet. 2010 February 12; 86(2): 294. doi: 10.1016/j.ajhg.2010.01.022.PMCID: PMC2820189 Corrects: Simon Edvardson, et al. Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation. Am J Hum Genet. 2010 January 8; 86(1): 93–97. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene 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, and Orly Elpeleg Am J Hum Genet. 2010 February 12; 86(2): 295. doi: 10.1016/j.ajhg.2010.01.020.PMCID: PMC2820182 Corrects: Avraham Zeharia, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene. Am J Hum Genet. 2009 September 11; 85(3): 401–407.
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