European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 8

TABLE OF CONTENTS Volume 21, Issue 8 (August 2013) In this issue Articles Short Reports Clinical Utility Gene Cards Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Web Focus: The future of next generation sequencing? Next generation sequencing is rapidly pervading all areas of Human genetics: improving speed, precision, and last but not least breadth of diagnostics; opening up new avenues of screening; are screening and testing still different or is there a confluence?  Access the full web focus from European Journal of Human Genetics and Oncogene online.  Articles Top Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010 Lidewij Henneman, Eric Vermeulen, Carla G van El, Liesbeth Claassen, Danielle R M Timmermans and Martina C Cornel Eur J Hum Genet 2013 21: 793-799; advance online publication, December 19, 2012; 10.1038/ejhg.2012.271 Abstract | Full Text The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis Zandra Deans, Francesco Fiorentino, Anil Biricik, Joanne Traeger-Synodinos, Céline Moutou, Martine De Rycke, Pamela Renwick, Sioban SenGupta, Veerle Goossens and Gary Harton Eur J Hum Genet 2013 21: 800-806; advance online publication, November 14, 2012; 10.1038/ejhg.2012.244 Abstract | Full Text Symptomatic lipid storage in carriers for the PNPLA2 gene Mirian C H Janssen, Baziel van Engelen, Livia Kapusta, Martin Lammens, Martin van Dijk, Judith Fischer, Marinette van der Graaf, Ron A Wevers, Manuela Fahrleitner, Robert Zimmermann and Eva Morava Eur J Hum Genet 2013 21: 807-815; advance online publication, December 12, 2012; 10.1038/ejhg.2012.256 Abstract | Full Text Craniofacial characteristics of fragile X syndrome in mouse and man Inge Heulens, Michael Suttie, Andrei Postnov, Nora De Clerck, Concetta S Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, R Frank Kooy and Peter Hammond Eur J Hum Genet 2013 21: 816-823; advance online publication, December 5, 2012; 10.1038/ejhg.2012.265 Abstract | Full Text Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer K Danza, B Pilato, R Lacalamita, T Addati, F Giotta, A Bruno, A Paradiso and S Tommasi Eur J Hum Genet 2013 21: 824-830; advance online publication, December 12, 2012; 10.1038/ejhg.2012.273 Abstract | Full Text Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum Xiaolong Zhou, Sikandar G Khan, Deborah Tamura, Takahiro Ueda, Jennifer Boyle, Emmanuel Compe, Jean-Marc Egly, John J DiGiovanna and Kenneth H Kraemer Eur J Hum Genet 2013 21: 831-837; advance online publication, December 12, 2012; 10.1038/ejhg.2012.246 Abstract | Full Text Frequency and characterization of DNA methylation defects in children born SGA Susanne Bens, Andrea Haake, Julia Richter, Judith Leohold, Julia Kolarova, Inga Vater, Felix G Riepe, Karin Buiting, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Konrad Platzer, Dirk Prawitt, Almuth Caliebe and Reiner Siebert Eur J Hum Genet 2013 21: 838-843; advance online publication, December 12, 2012; 10.1038/ejhg.2012.262 Abstract | Full Text A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype Zafar Iqbal, Mohsin Shahzad, Lisenka E L M Vissers, Monique van Scherpenzeel, Christian Gilissen, Attia Razzaq, Muhammad Yasir Zahoor, Shaheen N Khan, Tjitske Kleefstra, Joris A Veltman, Arjan P M de Brouwer, Dirk J Lefeber, Hans van Bokhoven and Sheikh Riazuddin Eur J Hum Genet 2013 21: 844-849; advance online publication, December 19, 2012; 10.1038/ejhg.2012.257 Abstract | Full Text Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes Pablo R Moya, Nicholas H Dodman, Kiara R Timpano, Liza M Rubenstein, Zaker Rana, Ruby L Fried, Louis F Reichardt, Gary A Heiman, Jay A Tischfield, Robert A King, Marzena Galdzicka, Edward I Ginns and Jens R Wendland Eur J Hum Genet 2013 21: 850-854; advance online publication, January 16, 2013; 10.1038/ejhg.2012.245 Abstract | Full Text Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire de Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, Philippe Parent, Hubert Journel, Leila Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Faivre, Bruno Eymard, Kim Maincent, Romain Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly and Isabelle Desguerre Eur J Hum Genet 2013 21: 855-863; advance online publication, January 9, 2013; 10.1038/ejhg.2012.269 Abstract | Full Text Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes Lídia Feliubadaló, Adriana Lopez-Doriga, Ester Castellsagué, Jesús del Valle, Mireia Menéndez, Eva Tornero, Eva Montes, Raquel Cuesta, Carolina Gómez, Olga Campos, Marta Pineda, Sara González, Victor Moreno, Joan Brunet, Ignacio Blanco, Eduard Serra, Gabriel Capellá and Conxi Lázaro Eur J Hum Genet 2013 21: 864-870; advance online publication, December 19, 2012; 10.1038/ejhg.2012.270 Abstract | Full Text Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene Ivo Barić, Ksenija Fumić, Danijela Petković Ramadža, Wolfgang Sperl, Franz A Zimmermann, Diana Muačević-Katanec, Zoran Mitrović, Leo Pažanin, Ljerka Cvitanović Šojat, Tihomir Kekez, Željko Reiner and Johannes A Mayr Eur J Hum Genet 2013 21: 871-875; advance online publication, December 12, 2012; 10.1038/ejhg.2012.272 Abstract | Full Text Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions Najaf Amin, Jouke-Jan Hottenga, Narelle K Hansell, A Cecile JW Janssens, Marleen HM de Moor, Pamela AF Madden, Irina V Zorkoltseva, Brenda W Penninx, Antonio Terracciano, Manuela Uda, Toshiko Tanaka, Tonu Esko, Anu Realo, Luigi Ferrucci, Michelle Luciano, Gail Davies, Andres Metspalu, Goncalo R Abecasis, Ian J Deary, Katri Raikkonen, Laura J Bierut, Paul T Costa, Viatcheslav Saviouk, Gu Zhu, Anatoly V Kirichenko, Aaron Isaacs, Yurii S Aulchenko, Gonneke Willemsen, Andrew C Heath, Michele L Pergadia, Sarah E Medland, Tatiana I Axenovich, Eco de Geus, Grant W Montgomery, Margaret J Wright, Ben A Oostra, Nicholas G Martin, Dorret I Boomsma and Cornelia M van Duijn Eur J Hum Genet 2013 21: 876-882; advance online publication, December 5, 2012; 10.1038/ejhg.2012.263 Abstract | Full Text Short Reports Top Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families Gorka Ruiz de Garibay, Avellaneda Díaz, Belén Gaviña, Atocha Romero, Pilar Garre, Ana Vega, Ana Blanco, Alicia Tosar, Orland Díez, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés and Miguel de la Hoya Eur J Hum Genet 2013 21: 883-886; advance online publication, December 5, 2012; 10.1038/ejhg.2012.268 Abstract | Full Text A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring Andreas Rump, Laura Hildebrand, Andreas Tzschach, Reinhard Ullmann, Evelin Schrock and Diana Mitter Eur J Hum Genet 2013 21: 887-890; advance online publication, December 12, 2012; 10.1038/ejhg.2012.267 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC) Carla Oliveira, Raquel Seruca, Nicoline Hoogerbrugge, Marjolijn Ligtenberg and Fátima Carneiro Eur J Hum Genet 2013 21: ; advance online publication, February 27, 2013; 10.1038/ejhg.2012.247 Full Text Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS] Martina Witsch-Baumgartner, Hilary Sawyer and Dorothea Haas Eur J Hum Genet 2013 21: ; advance online publication, January 16, 2013; 10.1038/ejhg.2012.255 Full Text Corrigenda Top Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire de Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Isabelle Pénisson-Besnier, Norma Romero, Caroline Espil, Philippe Parent, Hubert Journel, Leila Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Faivre, Bruno Eymard, Kim Maincent, Romain Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly and Isabelle Desguerre Eur J Hum Genet 2013 21: 892; 10.1038/ejhg.2013.74 Full Text Symptomatic lipid storage in carriers for the PNPLA2 gene Mirian C H Janssen, Baziel van Engelen, Livia Kapusta, Martin Lammens, Martin van Dijk, Judith Fischer, Marinette van der Graaf, Ron A Wevers, Manuela Fahrleitner, Robert Zimmermann and Eva Morava Eur J Hum Genet 2013 21: 892; 10.1038/ejhg.2013.11 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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