European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 7

Advertisement Combining open-access publishing with a powerful networking platform. The Frontiers publication process and Research Networking Platform allow you to build your own scientific profiles while following the work of colleagues, mentors and your science heroes. Connect with your community today TABLE OF CONTENTS Volume 21, Issue 7 (July 2013) In this issue News And Commentary Policy Articles Short Reports Clinical Utility Gene Cards Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe News And Commentary Top Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders? D Gareth R Evans, Andrew Wallace and William Newman Eur J Hum Genet 2013 21: 701-702; advance online publication, November 28, 2012; 10.1038/ejhg.2012.264 Full Text Policy Top The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes Robin Fears and Volker ter Meulen for the EASAC–FEAM Working Group Participants in the Working Group were: Stefania Boccia, Martina Cornel, Marc Delpech, Anne De Paepe, Xavier Estivill, Mats Hansson, Katia Karalis, Andres Metspalu, Markus Nöthen, Peter Propping, Jorge Sequeiros, Ron Zimmern, Volker ter Meulen (Chair), Robin Fears (secretariat) Eur J Hum Genet 2013 21: 703-707; advance online publication, November 21, 2012; 10.1038/ejhg.2012.238 Abstract | Full Text Spanish regulatory approach for Biobanking Javier Arias-Diaz, María C Martín-Arribas, Javier García del Pozo and Carlos Alonso Eur J Hum Genet 2013 21: 708-712; advance online publication, November 28, 2012; 10.1038/ejhg.2012.249 Abstract | Full Text Articles Top Non-invasive prenatal testing for single gene disorders: exploring the ethics Zuzana Deans, Melissa Hill, Lyn S Chitty and Celine Lewis Eur J Hum Genet 2013 21: 713-718; advance online publication, November 28, 2012; 10.1038/ejhg.2012.250 Abstract | Full Text A focus group study on breast cancer risk presentation: one format does not fit all Michel Dorval, Karine Bouchard, Jocelyne Chiquette, Gord Glendon, Christine M Maugard, Wilhelm Dubuisson, Seema Panchal and Jacques Simard Eur J Hum Genet 2013 21: 719-724; advance online publication, November 21, 2012; 10.1038/ejhg.2012.248 Abstract | Full Text Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities Francesco Fiorentino, Stefania Napoletano, Fiorina Caiazzo, Mariateresa Sessa, Sara Bono, Letizia Spizzichino, Anthony Gordon, Andrea Nuccitelli, Giuseppe Rizzo and Marina Baldi Eur J Hum Genet 2013 21: 725-730; advance online publication, December 5, 2012; 10.1038/ejhg.2012.253 Abstract | Full Text Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients Lihua Yu, Huayong Zhou, Fayun Hu and Yanming Xu Eur J Hum Genet 2013 21: 731-735; advance online publication, December 5, 2012; 10.1038/ejhg.2012.239 Abstract | Full Text Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François-Guillaume Debray, Patrick Rump, Alice Masurel-Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin-Robinet and Laurence Faivre Eur J Hum Genet 2013 21: 736-742; advance online publication, November 28, 2012; 10.1038/ejhg.2012.251 Abstract | Full Text Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 Pablo Villavicencio-Lorini, Eva Klopocki, Marc Trimborn, Randi Koll, Stefan Mundlos and Denise Horn Eur J Hum Genet 2013 21: 743-748; advance online publication, November 28, 2012; 10.1038/ejhg.2012.240 Abstract | Full Text Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals Amélie Piton, Loubna Jouan, Daniel Rochefort, Sylvia Dobrzeniecka, Karine Lachapelle, Patrick A Dion, Julie Gauthier and Guy A Rouleau Eur J Hum Genet 2013 21: 749-756; advance online publication, November 21, 2012; 10.1038/ejhg.2012.243 Abstract | Full Text Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements Silvana Beri, Maria Clara Bonaglia and Roberto Giorda Eur J Hum Genet 2013 21: 757-761; advance online publication, October 17, 2012; 10.1038/ejhg.2012.235 Abstract | Full Text Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes Ranad Shaheen, Eissa Faqeih, Muneera J Alshammari, Abdulrahman Swaid, Lihadh Al-Gazali, Elham Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Z Seidahmed, Muhammed I AlMotairi, Chantal Farra, Wesam Kurdi, Shatha Al-Rasheed and Fowzan S Alkuraya Eur J Hum Genet 2013 21: 762-768; advance online publication, November 21, 2012; 10.1038/ejhg.2012.254 Abstract | Full Text In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2 Elisabeth Castellanos, Imma Rosas, Ares Solanes, Isabel Bielsa, Conxi Lázaro, Cristina Carrato, Cristina Hostalot, Pepe Prades, Francesc Roca-Ribas, Ignacio Blanco and Eduard Serra on behalf of the NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC Eur J Hum Genet 2013 21: 769-773; advance online publication, November 28, 2012; 10.1038/ejhg.2012.261 Abstract | Full Text Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) Simona Cavalieri, Elisa Pozzi, Richard A Gatti and Alfredo Brusco Eur J Hum Genet 2013 21: 774-778; advance online publication, December 5, 2012; 10.1038/ejhg.2012.266 Abstract | Full Text A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array Tom R Gaunt, Gordon DO Lowe, Debbie A Lawlor, Juan-Pablo Casas and Ian NM Day Eur J Hum Genet 2013 21: 779-783; advance online publication, November 28, 2012; 10.1038/ejhg.2012.242 Abstract | Full Text Short Reports Top Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas Bertrand Isidor, Franck Bourdeaut, Delfine Lafon, Ghislaine Plessis, Elodie Lacaze, Caroline Kannengiesser, Sylvie Rossignol, Olivier Pichon, Annaig Briand, Dominique Martin-Coignard, Maria Piccione, Albert David, Olivier Delattre, Cécile Jeanpierre, Nicolas Sévenet and Cédric Le Caignec Eur J Hum Genet 2013 21: 784-787; advance online publication, November 21, 2012; 10.1038/ejhg.2012.252 Abstract | Full Text Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour Magdalena Gogiel, Matthias Begemann, Sabrina Spengler, Lukas Soellner, Ulf Göretzlehner, Thomas Eggermann and Gertrud Strobl-Wildemann Eur J Hum Genet 2013 21: 788-791; advance online publication, November 28, 2012; 10.1038/ejhg.2012.259 Abstract | Full Text Clinical Utility Gene Cards Top Clinical Utility Gene Card for: incontinentia pigmenti Francesca Fusco, Alessandra Pescatore, Julie Steffann, Ghislaine Royer, Jean-Paul Bonnefont and Matilde Valeria Ursini Eur J Hum Genet 2013 21: ; advance online publication, October 10, 2012; 10.1038/ejhg.2012.227 Full Text Clinical Utility Gene Card for: campomelic dysplasia Gerd Scherer, Bernhard Zabel and Gen Nishimura Eur J Hum Genet 2013 21: ; advance online publication, October 10, 2012; 10.1038/ejhg.2012.228 Full Text Clinical utility gene card for: Rothmund–Thomson syndrome Lidia Larizza, Gaia Roversi and Alain Verloes Eur J Hum Genet 2013 21: ; advance online publication, November 28, 2012; 10.1038/ejhg.2012.260 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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