European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 1

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TABLE OF CONTENTS Volume 23, Issue 1 (January 2015) In this issue News and Commentary Letters Review Articles Short Reports Book Review Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe News and Commentary Top A new mutation in GFAP widens the spectrum of Alexander disease Michael Brenner and Albee Messing Eur J Hum Genet 2015 23: 1-2; advance online publication, June 25, 2014; 10.1038/ejhg.2014.99 Full Text Letters Top Possible technical and biological explanations for the ‘parental telomere length inheritance discrepancy’ enigma Tim De Meyer and Dan T A Eisenberg Eur J Hum Genet 2015 23: 3-4; advance online publication, April 23, 2014; 10.1038/ejhg.2014.65 Full Text Parental expression is overvalued in the interpretation of rare inherited variants Gregory Costain Eur J Hum Genet 2015 23: 4-7; advance online publication, April 23, 2014; 10.1038/ejhg.2014.64 Full Text Review Top Measuring informed choice in population-based reproductive genetic screening: a systematic review Alice Grace Ames, Sylvia Ann Metcalfe, Alison Dalton Archibald, Rony Emily Duncan and Jon Emery Eur J Hum Genet 2015 23: 8-21; advance online publication, May 21, 2014; 10.1038/ejhg.2014.89 Abstract | Full Text Articles Top Toward a common language for biobanking Martin N Fransson, Emmanuelle Rial-Sebbag, Mathias Brochhausen and Jan-Eric Litton Eur J Hum Genet 2015 23: 22-28; advance online publication, April 9, 2014; 10.1038/ejhg.2014.45 Abstract | Full Text A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands Stephanie S Weinreich, Astrid Bosma, Lidewij Henneman, Tessel Rigter, Carla MJ Spruijt, Anneliese JEMA Grimbergen, Martijn H Breuning, Eelco JP de Koning, Monique Losekoot and Martina C Cornel Eur J Hum Genet 2015 23: 29-33; advance online publication, April 16, 2014; 10.1038/ejhg.2014.59 Abstract | Full Text Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease Nadine A Kasparian, Alison Rutstein, Ursula M Sansom-Daly, Shab Mireskandari, Janet Tyler, Jessica Duffy and Katherine M Tucker Eur J Hum Genet 2015 23: 34-40; advance online publication, April 2, 2014; 10.1038/ejhg.2014.44 Abstract | Full Text Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Sara Seneca, Kim Vancampenhout, Rudy Van Coster, Joél Smet, Willy Lissens, Arnaud Vanlander, Boel De Paepe, An Jonckheere, Katrien Stouffs and Linda De Meirleir Eur J Hum Genet 2015 23: 41-48; advance online publication, March 26, 2014; 10.1038/ejhg.2014.49 Abstract | Full Text Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, Jean-Marc Laville, Arnold Munnich and Valérie Cormier-Daire Eur J Hum Genet 2015 23: 49-53; advance online publication, April 23, 2014; 10.1038/ejhg.2014.60 Abstract | Full Text Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 Sirisha Peddibhotla, Sandesh CS Nagamani, Ayelet Erez, Jill V Hunter, J Lloyd Holder Jr, Mary E Carlin, Patricia I Bader, Helene MF Perras, Judith E Allanson, Leslie Newman, Gayle Simpson, LaDonna Immken, Erin Powell, Aaron Mohanty, Sung-Hae L Kang, Pawel Stankiewicz, Carlos A Bacino, Weimin Bi, Ankita Patel and Sau W Cheung Eur J Hum Genet 2015 23: 54-60; advance online publication, April 16, 2014; 10.1038/ejhg.2014.51 Abstract | Full Text Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements Trilochan Sahoo, Jia-Chi Wang, Mohamed M Elnaggar, Pedro Sanchez-Lara, Leslie P Ross, Loretta W Mahon, Katayoun Hafezi, Abigail Deming, Lynne Hinman, Yovana Bruno, James A Bartley, Thomas Liehr, Arturo Anguiano and Marilyn Jones Eur J Hum Genet 2015 23: 61-66; advance online publication, April 9, 2014; 10.1038/ejhg.2014.53 Abstract | Full Text Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy Jincy Winston, Laura Duerden, Matthew Mort, Ian M Frayling, Mark T Rogers and Meena Upadhyaya Eur J Hum Genet 2015 23: 67-71; advance online publication, April 23, 2014; 10.1038/ejhg.2014.58 Abstract | Full Text Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease Tai-Seung Nam, Jin Hee Kim, Chi-Hsuan Chang, Woong Yoon, Yoon Seok Jung, Sa-Yoon Kang, Boo Ahn Shin, Ming-Der Perng, Seok-Yong Choi and Myeong-Kyu Kim Eur J Hum Genet 2015 23: 72-78; advance online publication, April 23, 2014; 10.1038/ejhg.2014.68 Abstract | Full Text Genetic analysis, in silico prediction, and family segregation in long QT syndrome Helena Riuró, Oscar Campuzano, Paola Berne, Elena Arbelo, Anna Iglesias, Alexandra Pérez-Serra, Mònica Coll-Vidal, Sara Partemi, Irene Mademont-Soler, Ferran Picó, Catarina Allegue, Antonio Oliva, Edward Gerstenfeld, Georgia Sarquella-Brugada, Víctor Castro-Urda, Ignacio Fernández-Lozano, Lluís Mont, Josep Brugada, Fabiana S Scornik and Ramon Brugada Eur J Hum Genet 2015 23: 79-85; advance online publication, March 26, 2014; 10.1038/ejhg.2014.54 Abstract | Full Text Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease Jin Zhang, Zhi-Xia Zhang, Peng-Chen Du, Wei Zhou, Su-Dong Wu, Qi-Ling Wang, Cao Chen, Qi Shi, Chen Chen, Chen Gao, Chan Tian and Xiao-Ping Dong Eur J Hum Genet 2015 23: 86-91; advance online publication, March 26, 2014; 10.1038/ejhg.2014.52 Abstract | Full Text New insights into genotype–phenotype correlation for GLI3 mutations Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne-Lise Delezoide, Chloé Quélin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Megarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, Joëlle Roume, Bertrand Isidor, Didier Lacombe, Marie-Ange Delrue, Sandra Mercier, Nicole Philip, Elise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaelle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux-Coeslier, Marie-Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier-Daire, Louise Devisme, David Geneviève, Arnold Munnich, Géraldine Viot, Odile Raoul, Serge Romana, Marie Gonzales, Ferechte Encha-Razavi, Sylvie Odent, Michel Vekemans and Tania Attie-Bitach Eur J Hum Genet 2015 23: 92-102; advance online publication, April 16, 2014; 10.1038/ejhg.2014.62 Abstract | Full Text Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2 Qianghua Xia, Sandra Deliard, Chao-Xing Yuan, Matthew E Johnson and Struan FA Grant Eur J Hum Genet 2015 23: 103-109; advance online publication, March 26, 2014; 10.1038/ejhg.2014.48 Abstract | Full Text Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment Erik Fransen, Sarah Bonneux, Jason J Corneveaux, Isabelle Schrauwen, Federica Di Berardino, Cory H White, Jeffrey D Ohmen, Paul Van de Heyning, Umberto Ambrosetti, Matthew J Huentelman, Guy Van Camp and Rick A Friedman Eur J Hum Genet 2015 23: 110-115; advance online publication, June 18, 2014; 10.1038/ejhg.2014.56 Abstract | Full Text Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure Renato Polimanti, Sara Piacentini, Andrea Iorio, Flavio De Angelis, Andrey Kozlov, Andrea Novelletto and Maria Fuciarelli Eur J Hum Genet 2015 23: 116-123; advance online publication, March 26, 2014; 10.1038/ejhg.2014.47 Abstract | Full Text The phylogenetic and geographic structure of Y-chromosome haplogroup R1a Peter A Underhill, G David Poznik, Siiri Rootsi, Mari Järve, Alice A Lin, Jianbin Wang, Ben Passarelli, Jad Kanbar, Natalie M Myres, Roy J King, Julie Di Cristofaro, Hovhannes Sahakyan, Doron M Behar, Alena Kushniarevich, Jelena Šarac, Tena Šaric, Pavao Rudan, Ajai Kumar Pathak, Gyaneshwer Chaubey, Viola Grugni, Ornella Semino, Levon Yepiskoposyan, Ardeshir Bahmanimehr, Shirin Farjadian, Oleg Balanovsky, Elza K Khusnutdinova, Rene J Herrera, Jacques Chiaroni, Carlos D Bustamante, Stephen R Quake, Toomas Kivisild and Richard Villems Eur J Hum Genet 2015 23: 124-131; advance online publication, March 26, 2014; 10.1038/ejhg.2014.50 Abstract | Full Text Short Reports Top Brain tumor risk according to germ-line variation in the MLLT10 locus Kathleen M Egan, Rebekah Baskin, L Burton Nabors, Reid C Thompson, Jeffrey J Olson, James E Browning, Melissa H Madden and Alvaro N Monteiro Eur J Hum Genet 2015 23: 132-134; advance online publication, April 23, 2014; 10.1038/ejhg.2014.70 Abstract | Full Text Further confirmation of the MED13L haploinsufficiency syndrome Mieke M van Haelst, Glen R Monroe, Karen Duran, Ellen van Binsbergen, Johannes M Breur, Jacques C Giltay and Gijs van Haaften Eur J Hum Genet 2015 23: 135-138; advance online publication, April 30, 2014; 10.1038/ejhg.2014.69 Abstract | Full Text Book Review Top G is for Genes: The Impact of Genetics on Education and Achievement. Bernard Esquivel Eur J Hum Genet 2015 23: 139; 10.1038/ejhg.2014.117 Full Text Corrigendum Top Is the novel SCKL3 at 14q23 the predominant Seckel locus? Kılınç MO, Ninis VN, Uğur SA, Tüysüz B, Seven M, Balcı S, Goodship J and Tolun A Eur J Hum Genet 2015 23: 140; 10.1038/ejhg.2014.258 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. 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