European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 3

Advertisement Maximize Your Convenience SeqCap EZ Reagent Kit Experience the convenient SeqCap EZ Reagent Kit for your multiplex needs - compatible with all SeqCap EZ Libraries. Choose this all-in-one kit for multiplexing convenience Minimize sequencing costs with superior capture efficiency Discover more variants compared to other solutions Maximize your convenience -Order now! TABLE OF CONTENTS Volume 21, Issue 3 (March 2013) In this issue News and Commentary Policy Review Articles Short Reports Book Review Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Benefits of publishing the European Journal of Human Genetics - Online submission - reducing 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   News and Commentary Top Crossing the boundary between research and health care: P3G policy statement on return of results from population studiesEJHGOpen Martina C Cornel Eur J Hum Genet 2013 21: 243-244; advance online publication, July 25, 2012; 10.1038/ejhg.2012.160 Full Text Policy Top Population studies: return of research results and incidental findings Policy StatementEJHGOpen Bartha Maria Knoppers, Mylène Deschênes, Ma’n H Zawati and Anne Marie Tassé Eur J Hum Genet 2013 21: 245-247; advance online publication, July 11, 2012; 10.1038/ejhg.2012.152 Abstract | Full Text Review Top To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts Gabrielle M Christenhusz, Koenraad Devriendt and Kris Dierickx Eur J Hum Genet 2013 21: 248-255; advance online publication, June 27, 2012; 10.1038/ejhg.2012.130 Abstract | Full Text Articles Top Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions Heather Skirton, Lesley Goldsmith, Leigh Jackson and Aad Tibben Eur J Hum Genet 2013 21: 256-260; advance online publication, August 15, 2012; 10.1038/ejhg.2012.174 Abstract | Full Text Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study Flavia M Facio, Haley Eidem, Tyler Fisher, Stephanie Brooks, Amy Linn, Kimberly A Kaphingst, Leslie G Biesecker and Barbara B Biesecker Eur J Hum Genet 2013 21: 261-265; advance online publication, August 15, 2012; 10.1038/ejhg.2012.179 Abstract | Full Text The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nick de Klerk, Helen Leonard and John Christodoulou Eur J Hum Genet 2013 21: 266-273; advance online publication, August 8, 2012; 10.1038/ejhg.2012.156 Abstract | Full Text 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 AZ Hudspith, Alexandra Kwasniewska, Wayne IL Davies, Mark W Hankins, Emily R Packham, Penny Clouston, Anneke Seller, Andrew OM Wilkie, Jenny C Taylor, Jiannis Ragoussis and Andrea H Németh Eur J Hum Genet 2013 21: 274-280; advance online publication, September 12, 2012; 10.1038/ejhg.2012.172 Abstract | Full Text Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion Onur Emre Onat, Suleyman Gulsuner, Kaya Bilguvar, Ayse Nazli Basak, Haluk Topaloglu, Meliha Tan, Uner Tan, Murat Gunel and Tayfun Ozcelik Eur J Hum Genet 2013 21: 281-285; advance online publication, August 15, 2012; 10.1038/ejhg.2012.170 Abstract | Full Text Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations Barbara Lanthaler, Elisabeth Steichen-Gersdorf, Barbara Kollerits, Johannes Zschocke and Martina Witsch-Baumgartner Eur J Hum Genet 2013 21: 286-293; advance online publication, August 29, 2012; 10.1038/ejhg.2012.169 Abstract | Full Text Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy Thomas Meyer, Volker Ruppert, Sarah Ackermann, Anette Richter, Andreas Perrot, Silke R Sperling, Maximilian G Posch, Bernhard Maisch and Sabine Pankuweit on behalf of the German Competence Network Heart Failure Eur J Hum Genet 2013 21: 294-300; advance online publication, August 15, 2012; 10.1038/ejhg.2012.173 Abstract | Full Text The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC Joana Figueiredo, Ola Söderberg, Joana Simões-Correia, Karin Grannas, Gianpaolo Suriano and Raquel Seruca Eur J Hum Genet 2013 21: 301-309; advance online publication, August 1, 2012; 10.1038/ejhg.2012.159 Abstract | Full Text Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders Luigi Boccuto, Maria Lauri, Sara M Sarasua, Cindy D Skinner, Daniela Buccella, Alka Dwivedi, Daniela Orteschi, Julianne S Collins, Marcella Zollino, Paola Visconti, Barb DuPont, Danilo Tiziano, Richard J Schroer, Giovanni Neri, Roger E Stevenson, Fiorella Gurrieri and Charles E Schwartz Eur J Hum Genet 2013 21: 310-316; advance online publication, August 15, 2012; 10.1038/ejhg.2012.175 Abstract | Full Text FTO levels affect RNA modification and the transcriptome Tea Berulava, Matthias Ziehe, Ludger Klein-Hitpass, Emil Mladenov, Jürgen Thomale, Ulrich Rüther and Bernhard Horsthemke Eur J Hum Genet 2013 21: 317-323; advance online publication, August 8, 2012; 10.1038/ejhg.2012.168 Abstract | Full Text The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88 Miguel González, Verónica Gomes, Ana Maria López-Parra, António Amorim, Ángel Carracedo, Paula Sánchez-Diz, Eduardo Arroyo-Pardo and Leonor Gusmão Eur J Hum Genet 2013 21: 324-331; advance online publication, August 15, 2012; 10.1038/ejhg.2012.167 Abstract | Full Text Adaptive clustering and adaptive weighting methods to detect disease associated rare variants Qiuying Sha, Shuaicheng Wang and Shuanglin Zhang Eur J Hum Genet 2013 21: 332-337; advance online publication, July 11, 2012; 10.1038/ejhg.2012.143 Abstract | Full Text Short Reports Top A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q Kunka Kamenarova, Sylvia Cherninkova, Margarita Romero Durán, DeQuincy Prescott, Maria Lourdes Valdés Sánchez, Vanio Mitev, Ivo Kremensky, Radka Kaneva, Shomi S Bhattacharya, Ivailo Tournev and Christina Chakarova Eur J Hum Genet 2013 21: 338-342; advance online publication, August 29, 2012; 10.1038/ejhg.2012.158 Abstract | Full Text Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders Sandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, Moshe Frydman, Susan Winter, Robert Zeller, Dima El-Khechen, Luis Escobar, Pawel Stankiewicz, Ankita Patel and Sau Wai Cheung Eur J Hum Genet 2013 21: 343-346; advance online publication, August 8, 2012; 10.1038/ejhg.2012.157 Abstract | Full Text Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility Amirreza Haghighi, Alireza Haghighi, Aria Setoodeh, Nasrollah Saleh-Gohari, Dewi Astuti and Timothy G Barrett Eur J Hum Genet 2013 21: 347-351; advance online publication, July 11, 2012; 10.1038/ejhg.2012.154 Abstract | Full Text Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome Barbara Kloeckener-Gruissem, John Neidhardt, István Magyar, Henri Plauchu, Jean-Christophe Zech, Laurette Morlé, Sheila M Palmer-Smith, Moira J MacDonald, Véronique Nas, Andrew E Fry and Wolfgang Berger Eur J Hum Genet 2013 21: 352-356; advance online publication, June 27, 2012; 10.1038/ejhg.2012.137 Abstract | Full Text Book Review Top The practical implications when finding chromosome abnormalities Ros J Hastings Eur J Hum Genet 2013 21: 357; 10.1038/ejhg.2012.119 Full Text Advertisement FREE for everyone, the Practical Genetics Series delivers a one-stop-shop information resource for genetics clinicians.  Access the papers in the series online here    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.