European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 10

TABLE OF CONTENTS Volume 20, Issue 10 (October 2012) In this issue Practical Genetics Articles Short Reports Clinical Utility Gene Cards Corrigendum Also new AOP Advertisement The Accelrys NGS Collection Unparalleled versatility, agility and scalability with proven enterprise performance.  Download analyst white paper to learn more Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Check out EJHG's most downloaded article in August To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics held a series of workshops as part of an ESHG satellite symposium on the 'Changing landscape of genetic testing'. In this paper, Ros Hastings et al summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe European Journal of Human Genetics ¦ doi:10.1038/ejhg.2012.56   Practical Genetics Top Aniridia Melanie Hingorani, Isabel Hanson and Veronica van Heyningen Eur J Hum Genet 2012 20: 1011-1017; advance online publication, June 13, 2012; 10.1038/ejhg.2012.100 Abstract | Full Text Articles Top Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts Els Geelen, Klasien Horstman, Carlo LM Marcelis, Pieter A Doevendans and Ine Van Hoyweghen Eur J Hum Genet 2012 20: 1018-1023; advance online publication, March 28, 2012; 10.1038/ejhg.2012.53 Abstract | Full Text Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance Sahar Mansour, Marielle Swinkels, Paulien A Terhal, Louise C Wilson, Philip Rich, Lionel Van Maldergem, Petra JG Zwijnenburg, Christine M Hall, Stephen P Robertson and Ruth Newbury-Ecob Eur J Hum Genet 2012 20: 1024-1031; advance online publication, April 4, 2012; 10.1038/ejhg.2012.57 Abstract | Full Text Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Uppala Radhakrishna, Uppala Ratnamala, Samuel Deutsch, Lucia Bartoloni, Murali R Kuracha, Raminder Singh, Jasjit Banwait, Dhundy K Bastola, Kaid Johar, Swapan K Nath and Stylianos E Antonarakis Eur J Hum Genet 2012 20: 1032-1036; advance online publication, April 11, 2012; 10.1038/ejhg.2012.60 Abstract | Full Text De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems Erik A Ehli, Abdel Abdellaoui, Yueshan Hu, Jouke Jan Hottenga, Mathijs Kattenberg, Toos van Beijsterveldt, Meike Bartels, Robert R Althoff, Xiangjun Xiao, Paul Scheet, Eco J de Geus, James J Hudziak, Dorret I Boomsma and Gareth E Davies Eur J Hum Genet 2012 20: 1037-1043; advance online publication, April 11, 2012; 10.1038/ejhg.2012.49 Abstract | Full Text DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations Erica Lana, André Mégarbané, Hélène Tourrière, Pierre Sarda, Gérard Lefranc, Mireille Claustres and Albertina De Sario Eur J Hum Genet 2012 20: 1044-1050; advance online publication, February 29, 2012; 10.1038/ejhg.2012.41 Abstract | Full Text Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms Vandana Shashi, Alan Francis, Stephen R Hooper, Peter G Kranz, Michael Zapadka, Kelly Schoch, Edward Ip, Neeraj Tandon, Timothy D Howard and Matcheri S Keshavan Eur J Hum Genet 2012 20: 1051-1057; advance online publication, June 27, 2012; 10.1038/ejhg.2012.138 Abstract | Full Text PDGFRa mutations in humans with isolated cleft palate Sawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Pichit Siriwan, Kanya Suphapeetiporn and Vorasuk Shotelersuk Eur J Hum Genet 2012 20: 1058-1062; advance online publication, April 4, 2012; 10.1038/ejhg.2012.55 Abstract | Full Text Afghanistan from a Y-chromosome perspective Harlette Lacau, Tenzin Gayden, Maria Regueiro, Shilpa Chennakrishnaiah, Areej Bukhari, Peter A Underhill, Ralph L Garcia-Bertrand and Rene J Herrera Eur J Hum Genet 2012 20: 1063-1070; advance online publication, April 18, 2012; 10.1038/ejhg.2012.59 Abstract | Full Text The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy Iris CRM Kolder, Michelle Michels, Imke Christiaans, Folkert J Ten Cate, Danielle Majoor-Krakauer, Alexander HJ Danser, Robert H Lekanne Deprez, Michael WT Tanck, Arthur AM Wilde, Connie R Bezzina and Dennis Dooijes Eur J Hum Genet 2012 20: 1071-1077; advance online publication, May 9, 2012; 10.1038/ejhg.2012.48 Abstract | Full Text Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes Bradley T Webb, An-Yuan Guo, Brion S Maher, Zhongming Zhao, Edwin J van den Oord, Kenneth S Kendler, Brien P Riley, Nathan A Gillespie, Carol A Prescott, Christel M Middeldorp, Gonneke Willemsen, Eco JC de Geus, Jouke-Jan Hottenga, Dorret I Boomsma, Eline P Slagboom, Naomi R Wray, Grant W Montgomery, Nicholas G Martin, Margie J Wright, Andrew C Heath, Pamela A Madden, Joel Gelernter, James A Knowles, Steven P Hamilton, Myrna M Weissman, Abby J Fyer, Patricia Huezo-Diaz, Peter McGuffin, Anne Farmer, Ian W Craig, Cathryn Lewis, Pak Sham, Raymond R Crowe, Jonathan Flint and John M Hettema Eur J Hum Genet 2012 20: 1078-1084; advance online publication, April 4, 2012; 10.1038/ejhg.2012.47 Abstract | Full Text Sampling strategies for rare variant tests in case–control studies Sebastian Zöllner Eur J Hum Genet 2012 20: 1085-1091; advance online publication, April 18, 2012; 10.1038/ejhg.2012.58 Abstract | Full Text Short Reports Top Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients Edyta Mądry, Beata Krasińska, Sławomira Drzymała-Czyż, Dorota Sands, Aleksandra Lisowska, Philip Grebowiec, Alina Minarowska, Beata Oralewska, Przemyslaw Mańkowski, Jerzy Moczko and Jarosław Walkowiak Eur J Hum Genet 2012 20: 1092-1095; advance online publication, March 28, 2012; 10.1038/ejhg.2012.52 Abstract | Full Text Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene Aliya Ishmukhametova, Philippe Khau Van Kien, Déborah Méchin, Delphine Thorel, Marie-Claire Vincent, François Rivier, Christine Coubes, Véronique Humbertclaude, Mireille Claustres and Sylvie Tuffery-Giraud Eur J Hum Genet 2012 20: 1096-1100; advance online publication, April 18, 2012; 10.1038/ejhg.2012.51 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Centronuclear and myotubular myopathies Valérie Biancalana, Alan H Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino, Kathryn North, Norma B Romero and Jocelyn Laporte Eur J Hum Genet 2012 20: ; advance online publication, May 23, 2012; 10.1038/ejhg.2012.91 Full Text Clinical utility gene card for: Glanzmann thrombasthenia Mathieu Fiore, Alan T Nurden, Paquita Nurden and Uri Seligsohn Eur J Hum Genet 2012 20: ; advance online publication, July 11, 2012; 10.1038/ejhg.2012.151 Full Text Corrigendum Top Clinical utility gene card for: Glanzmann thrombasthenia Mathieu Fiore, Alan T Nurden, Paquita Nurden and Uri Seligsohn Eur J Hum Genet 2012 20: 1102; 10.1038/ejhg.2012.178 Full Text Advertisement Miami 2013 Winter Symposium: The Molecular Basis of Metabolism and Nutrition February 10-13, 2013 - Miami, FL, USA Join leaders in this field to discuss advances in human nutrition, human genetics/epigenetics, clinical and animal studies of disease pathogenesis, inborn errors of metabolism, methyl metabolism, stem cell programming, genome stability, transcription, and developmental biology. For more information and to register, visit: www.nature.com/natureconferences/miami/mws2013   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. © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.