European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 8

TABLE OF CONTENTS Volume 20, Issue 8 (August 2012) In this issue Reviews Articles Short Report Clinical Utility Gene Cards Corrigendum Also new AOP Advertisement In an iDEAL world, ChIP-Seq would work. Diagenode now offers the powerful, complete iDEAL ChIP-Seq kit, the only kit on the market validated for GAIIx (Illumina®) and PGM™ (Ion Torrent™) sequencers. Our long history in developing optimal epigenetics tools and our expertise with ChIP-seq enables reproducible, efficient, and high quality results every time. Learn more about the iDEAL ChIP-Seq kit. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement The Journal's new impact factor is 4.400! Thank you to all our authors, readers, editors, and reviewers for their contributions and support. Check out one of the highest cited articles contributing to the new impact factor Microdeletion of SNORD116 snoRNA cluster in PWS In this report, AL Duker et al provide convincing evidence that a small deletion involving SNORD116 snoRNA cluster is sufficient to cause PWS.   Reviews Top Direct-to-consumer genomic testing: systematic review of the literature on user perspectives Lesley Goldsmith, Leigh Jackson, Anita O'Connor and Heather Skirton Eur J Hum Genet 2012 20: 811-816; advance online publication, February 15, 2012; 10.1038/ejhg.2012.18 Abstract | Full Text Syndactyly: phenotypes, genetics and current classification Sajid Malik Eur J Hum Genet 2012 20: 817-824; advance online publication, February 15, 2012; 10.1038/ejhg.2012.14 Abstract | Full Text Articles Top An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice Gemma R Brett, Sylvia A Metcalfe, David J Amor and Jane L Halliday Eur J Hum Genet 2012 20: 825-830; advance online publication, February 8, 2012; 10.1038/ejhg.2012.13 Abstract | Full Text Estimating the contribution of genetic variants to difference in incidence of disease between population groups Ramal Moonesinghe, John PA Ioannidis, W Dana Flanders, Quanhe Yang, Benedict I Truman and Muin J Khoury Eur J Hum Genet 2012 20: 831-836; advance online publication, February 15, 2012; 10.1038/ejhg.2012.15 Abstract | Full Text One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants Fiona Alice Miller, Robin Zoe Hayeems, Li Li and Jessica Peace Bytautas Eur J Hum Genet 2012 20: 837-843; advance online publication, February 15, 2012; 10.1038/ejhg.2012.24 Abstract | Full Text COL4A2 mutation associated with familial porencephaly and small-vessel disease Elly Verbeek, Marije EC Meuwissen, Frans W Verheijen, Paul P Govaert, Daniel J Licht, Debbie S Kuo, Cathryn J Poulton, Rachel Schot, Maarten H Lequin, Jeroen Dudink, Dicky J Halley, René IF de Coo, Jan C den Hollander, Renske Oegema, Douglas B Gould and Grazia MS Mancini Eur J Hum Genet 2012 20: 844-851; advance online publication, February 15, 2012; 10.1038/ejhg.2012.20 Abstract | Full Text 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias Simone Gana, Pierangelo Veggiotti, Giusy Sciacca, Cristina Fedeli, Anna Bersano, Giuseppe Micieli, Mohamad Maghnie, Roberto Ciccone, Elena Rossi, Katie Plunkett, Weimin Bi, Vernon R Sutton and Orsetta Zuffardi Eur J Hum Genet 2012 20: 852-856; advance online publication, February 29, 2012; 10.1038/ejhg.2012.19 Abstract | Full Text Genome-wide analysis of epistasis in body mass index using multiple human populations Wen-Hua Wei, Gib Hemani, Attila Gyenesei, Veronique Vitart, Pau Navarro, Caroline Hayward, Claudia P Cabrera, Jennifer E Huffman, Sara A Knott, Andrew A Hicks, Igor Rudan, Peter P Pramstaller, Sarah H Wild, James F Wilson, Harry Campbell, Nicholas D Hastie, Alan F Wright and Chris S Haley Eur J Hum Genet 2012 20: 857-862; advance online publication, February 15, 2012; 10.1038/ejhg.2012.17 Abstract | Full Text TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton and Helen Cox Eur J Hum Genet 2012 20: 863-869; advance online publication, February 15, 2012; 10.1038/ejhg.2012.16 Abstract | Full Text C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome Michael Klüppel, Payman Samavarchi-Tehrani, Kela Liu, Jeffrey L Wrana and Aleksander Hinek Eur J Hum Genet 2012 20: 870-877; advance online publication, February 8, 2012; 10.1038/ejhg.2012.12 Abstract | Full Text Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators Patrícia Oliveira, Remo Sanges, David Huntsman, Elia Stupka and Carla Oliveira Eur J Hum Genet 2012 20: 878-883; advance online publication, February 8, 2012; 10.1038/ejhg.2012.11 Abstract | Full Text Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis Hadas Stiebel-Kalish, Ehud Reich, Nir Rainy, Gad Vatine, Yael Nisgav, Anna Tovar, Yoav Gothilf and Michael Bach Eur J Hum Genet 2012 20: 884-889; advance online publication, February 29, 2012; 10.1038/ejhg.2012.10 Abstract | Full Text Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis Valentina Moskvina, Karl M Schmidt, Alexey Vedernikov, Michael J Owen, Nicholas Craddock, Peter Holmans and Michael C O'Donovan Eur J Hum Genet 2012 20: 890-896; advance online publication, February 8, 2012; 10.1038/ejhg.2012.8 Abstract | Full Text Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue Helen AL Tuppen, Karin Naess, Nancy G Kennaway, Mazhor Al-Dosary, Nicole Lesko, John W Yarham, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Richard G Weleber, Emma L Blakely, Robert W Taylor and Robert McFarland Eur J Hum Genet 2012 20: 897-904; advance online publication, May 16, 2012; 10.1038/ejhg.2012.44 Abstract | Full Text Short Report Top High prevalence of genetic variants previously associated with LQT syndrome in new exome data Lena Refsgaard, Anders G Holst, Golnaz Sadjadieh, Stig Haunsø, Jonas B Nielsen and Morten S Olesen Eur J Hum Genet 2012 20: 905-908; advance online publication, February 29, 2012; 10.1038/ejhg.2012.23 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) Juliette Albuisson, Sébastien Schmitt, Sabine Baron, Stéphane Bézieau, Sara Benito-Sanz and Karen E Heath Eur J Hum Genet 2012 20: ; advance online publication, April 18, 2012; 10.1038/ejhg.2012.64 Full Text Clinical utility gene card for: Abetalipoproteinaemia John R Burnett, Damon A Bell, Amanda J Hooper and Robert A Hegele Eur J Hum Genet 2012 20: ; advance online publication, February 29, 2012; 10.1038/ejhg.2012.30 Full Text Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB) John R Burnett, Damon A Bell, Amanda J Hooper and Robert A Hegele Eur J Hum Genet 2012 20: ; advance online publication, May 16, 2012; 10.1038/ejhg.2012.85 Full Text Corrigendum Top Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy Helen AL Tuppen, Karin Naess, Nancy G Kennaway, Mazhor Al-Dosary, Nicole Lesko, John W Yarham, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Richard G Weleber, Emma L Blakely, Robert W Taylor and Robert McFarland Eur J Hum Genet 2012 20: 910; 10.1038/ejhg.2012.123 Full Text Advertisement Benefits of publishing the European Journal of Human Genetics - Online submission - educing publication times - Comprehensive peer review by renowned editorial team - Open access publication option - Inclusion in the leading abstracting and indexing services - High visibility for your research Submit your research using our online submission site   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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