European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 9

Advertisement Circulation: Cardiovascular Genetics is the top journal dedicated to in cardiovascular genetics, genomics, and systems biology. See for yourself - all content older than 12 months and Editor's Picks articles published with each issue are freely accessible on Circulation: Cardiovascular Genetics' Web site. TABLE OF CONTENTS Volume 21, Issue 9 (September 2013) In this issue Obituary Letter Articles Short Reports Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Obituary Top André Boué (1925–2012) Simone Gilgenkrantz and Claudine Junien Eur J Hum Genet 2013 21: 893; 10.1038/ejhg.2013.127 Full Text Letter Top Persistence and transmission of recessive deafness and sign language: new insights from village sign languages Alessandro Gialluisi, Dan Dediu, Clyde Francks and Simon E Fisher Eur J Hum Genet 2013 21: 894-896; advance online publication, January 16, 2013; 10.1038/ejhg.2012.292 Full Text Articles Top Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem?EJHGOpen Kristin Solum Steinsbekk, Bjørn Kåre Myskja and Berge Solberg Eur J Hum Genet 2013 21: 897-902; advance online publication, January 9, 2013; 10.1038/ejhg.2012.282 Abstract | Full Text Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talkEJHGOpen Kelly A McClellan, Erika Kleiderman, Lee Black, Karine Bouchard, Michel Dorval, Jacques Simard, Bartha M Knoppers and Denise Avard Eur J Hum Genet 2013 21: 903-910; advance online publication, January 23, 2013; 10.1038/ejhg.2012.286 Abstract | Full Text Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification Elena Sommariva, Carlo Pappone, Filippo Martinelli Boneschi, Chiara Di Resta, Maria Rosaria Carbone, Erika Salvi, Pasquale Vergara, Simone Sala, Daniele Cusi, Maurizio Ferrari and Sara Benedetti Eur J Hum Genet 2013 21: 911-917; advance online publication, January 16, 2013; 10.1038/ejhg.2012.289 Abstract | Full Text New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variantsEJHGOpen Charlotte Andreasen, Jonas B Nielsen, Lena Refsgaard, Anders G Holst, Alex H Christensen, Laura Andreasen, Ahmad Sajadieh, Stig Haunsø, Jesper H Svendsen and Morten S Olesen Eur J Hum Genet 2013 21: 918-928; advance online publication, January 9, 2013; 10.1038/ejhg.2012.283 Abstract | Full Text APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis Yang Chen, Jie Li, Xiaoxiang Yu, Shuai Li, Xuerong Zhang, Zengnan Mo and Yanling Hu Eur J Hum Genet 2013 21: 929-935; advance online publication, January 9, 2013; 10.1038/ejhg.2012.281 Abstract | Full Text Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings Ellen A Croonen, Willy M Nillesen, Kyra E Stuurman, Gretel Oudesluijs, Ingrid M B M van de Laar, Liesbeth Martens, Charlotte Ockeloen, Inge B Mathijssen, Marga Schepens, Martina Ruiterkamp-Versteeg, Hans Scheffer, Brigitte H W Faas, Ineke van der Burgt and Helger G Yntema Eur J Hum Genet 2013 21: 936-942; advance online publication, January 16, 2013; 10.1038/ejhg.2012.285 Abstract | Full Text Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010 Jianhua Wu and Joan K Morris Eur J Hum Genet 2013 21: 943-947; advance online publication, January 30, 2013; 10.1038/ejhg.2012.288 Abstract | Full Text Comparative study of artificial chromosome centromeres in human and murine cells Daniela Moralli, Andrew Jefferson, Emanuela Valeria Volpi and Zoia Larin Monaco Eur J Hum Genet 2013 21: 948-956; advance online publication, February 13, 2013; 10.1038/ejhg.2012.296 Abstract | Full Text Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 Ramesh Reddy, Elie Akoury, Ngoc Minh Phuong Nguyen, Omar A Abdul-Rahman, Christine Dery, Neerja Gupta, William P Daley, Asangla Ao, Hanene Landolsi, Rosemary Ann Fisher, Isabelle Touitou and Rima Slim Eur J Hum Genet 2013 21: 957-964; advance online publication, December 12, 2012; 10.1038/ejhg.2012.274 Abstract | Full Text Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p Fiorella Gurrieri, Marcella Zollino, Antonio Oliva, Vincenzo Pascali, Daniela Orteschi, Roberta Pietrobono, Antonella Camporeale, Monica Coll Vidal, Sara Partemi, Ramon Brugada, Fulvio Bellocci and Giovanni Neri Eur J Hum Genet 2013 21: 965-969; advance online publication, March 20, 2013; 10.1038/ejhg.2012.280 Abstract | Full Text Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene Nathalie Lannoy, Bernard Grisart, Stéphane Eeckhoudt, Christine Verellen-Dumoulin, Catherine Lambert, Miikka Vikkula and Cédric Hermans Eur J Hum Genet 2013 21: 970-976; advance online publication, January 9, 2013; 10.1038/ejhg.2012.275 Abstract | Full Text Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genesEJHGOpen Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint, Chrystel Leroy, Virginie Commere, Tiffany Ghiotti, Nathalie Deburgrave, Yoann Saillour, Isabelle Atlan, Corinne Fouveaut, Cherif Beldjord, Sophie Valleix, France Leturcq, Catherine Dodé, Thierry Bienvenu, Jamel Chelly and Mireille Cossée Eur J Hum Genet 2013 21: 977-987; advance online publication, January 23, 2013; 10.1038/ejhg.2012.279 Abstract | Full Text Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity Galina Y Zheleznyakova, Sarah Voisin, Anton V Kiselev, Markus Sällman Almén, Miguel J Xavier, Marianna A Maretina, Lyudmila I Tishchenko, Robert Fredriksson, Vladislav S Baranov and Helgi B Schiöth Eur J Hum Genet 2013 21: 988-993; advance online publication, January 9, 2013; 10.1038/ejhg.2012.293 Abstract | Full Text Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populationsEJHGOpen Chuan Wang, Annika Ahlford, Tiina M Järvinen, Gunnel Nordmark, Maija-Leena Eloranta, Iva Gunnarsson, Elisabet Svenungsson, Leonid Padyukov, Gunnar Sturfelt, Andreas Jönsen, Anders A Bengtsson, Lennart Truedsson, Catharina Eriksson, Solbritt Rantapää-Dahlqvist, Christopher Sjöwall, Heikki Julkunen, Lindsey A Criswell, Robert R Graham, Timothy W Behrens, Juha Kere, Lars Rönnblom, Ann-Christine Syvänen and Johanna K Sandling Eur J Hum Genet 2013 21: 994-999; advance online publication, December 19, 2012; 10.1038/ejhg.2012.277 Abstract | Full Text Genomic correlates of variability in immune response to an oral cholera vaccine Partha P Majumder, Neeta Sarkar-Roy, Herman Staats, T Ramamurthy, Sujit Maiti, Goutam Chowdhury, Carol C Whisnant, K Narayanasamy and Diane K Wagener Eur J Hum Genet 2013 21: 1000-1006; advance online publication, December 19, 2012; 10.1038/ejhg.2012.278 Abstract | Full Text Mosaic copy number variation in schizophrenia Douglas M Ruderfer, Kim Chambert, Jennifer Moran, Michael Talkowski, Elizabeth S Chen, Carolina Gigek, James F Gusella, Douglas H Blackwood, Aiden Corvin, Hugh M Gurling, Christina M Hultman, George Kirov, Patrick Magnusson, Michael C O’Donovan, Michael J Owen, Carlos Pato, David St Clair, Patrick F Sullivan, Shaun M Purcell, Pamela Sklar and Carl Ernst Eur J Hum Genet 2013 21: 1007-1011; advance online publication, January 16, 2013; 10.1038/ejhg.2012.287 Abstract | Full Text Short Reports Top Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males Albrecht Röpke, Ann-Christin Tewes, Jörg Gromoll, Sabine Kliesch, Peter Wieacker and Frank Tüttelmann Eur J Hum Genet 2013 21: 1012-1015; advance online publication, January 9, 2013; 10.1038/ejhg.2012.290 Abstract | Full Text The population prevalence of Down’s syndrome in England and Wales in 2011 Jianhua Wu and Joan K Morris Eur J Hum Genet 2013 21: 1016-1019; advance online publication, January 16, 2013; 10.1038/ejhg.2012.294 Abstract | Full Text Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency Lars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, Regula Schmid, Bernhard Schmidt, Thomas Dierks and Jutta Gärtner Eur J Hum Genet 2013 21: 1020-1023; advance online publication, January 16, 2013; 10.1038/ejhg.2012.291 Abstract | Full Text A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18 Kerttu K Majander, Pia M Villa, Katja Kivinen, Juha Kere and Hannele Laivuori Eur J Hum Genet 2013 21: 1024-1026; advance online publication, February 6, 2013; 10.1038/ejhg.2013.6 Abstract | Full Text Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals Martin Ladouceur, Hou-Feng Zheng, Celia M T Greenwood and J Brent Richards Eur J Hum Genet 2013 21: 1027-1030; advance online publication, January 16, 2013; 10.1038/ejhg.2012.284 Abstract | Full Text Corrigenda Top Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease Morag E Shanks, Susan M Downes, Richard R Copley, Stefano Lise, John Broxholme, Karl A Z Hudspith, Alexandra Kwasniewska, Wayne I L Davies, Mark W Hankins, Emily R Packham, Penny Clouston, Anneke Seller, Andrew O M Wilkie, Jenny C Taylor, Jiannis Ragoussis and Andrea H Németh Eur J Hum Genet 2013 21: 1031; 10.1038/ejhg.2013.91 Full Text Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 D Gareth R Evans, Catherine O'Hara, Anna Wilding, Sarah L Ingham, Elizabeth Howard, John Dawson, Anthony Moran, Vilka Scott-Kitching, Felicity Holt and Susan M Huson Eur J Hum Genet 2013 21: 1031; 10.1038/ejhg.2013.121 Full Text Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010 Jianhua Wu and Joan K Morris Eur J Hum Genet 2013 21: 1032-1033; 10.1038/ejhg.2013.103 Full Text The population prevalence of Down’s syndrome in England and Wales in 2011 Jianhua Wu and Joan K Morris Eur J Hum Genet 2013 21: 1033-1034; 10.1038/ejhg.2013.104 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. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2013 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.