European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 9

TABLE OF CONTENTS Volume 20, Issue 9 (September 2012) In this issue Policy Articles Short Reports Book Review Corrigenda 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   Policy Top The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe Ros Hastings, Guido de Wert, Brian Fowler, Michael Krawczak, Eric Vermeulen, Egbert Bakker, Pascal Borry, Wybo Dondorp, Niels Nijsingh, David Barton, Jörg Schmidtke, Carla G van El, Joris Vermeesch, Yrrah Stol, Heidi Carmen Howard and Martina C Cornel Eur J Hum Genet 2012 20: 911-916; advance online publication, March 28, 2012; 10.1038/ejhg.2012.56 Abstract | Full Text Articles Top Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease Anne-Sophie Jannot, Jeanne Amiel, Anna Pelet, Francesca Lantieri, Raquel M Fernandez, Joke B G M Verheij, Merce Garcia-Barcelo, Stacey Arnold, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Paul K H Tam, Arnold Munnich, Aravinda Chakravarti, Françoise Clerget-Darpoux and Stanislas Lyonnet Eur J Hum Genet 2012 20: 917-920; advance online publication, March 7, 2012; 10.1038/ejhg.2012.35 Abstract | Full Text The phenotype associated with a large deletion on MECP2 Ami Bebbington, Jenny Downs, Alan Percy, Mercé Pineda, Bruria Ben Zeev, Nadia Bahi-Buisson and Helen Leonard Eur J Hum Genet 2012 20: 921-927; advance online publication, April 4, 2012; 10.1038/ejhg.2012.34 Abstract | Full Text Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype Masayo Kagami, Fumiko Kato, Keiko Matsubara, Tomoko Sato, Gen Nishimura and Tsutomu Ogata Eur J Hum Genet 2012 20: 928-932; advance online publication, February 22, 2012; 10.1038/ejhg.2012.26 Abstract | Full Text Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn Janine Reunert, Rüdiger Wentzell, Michael Walter, Sibylle Jakubiczka, Martin Zenker, Thomas Brune, Stephan Rust and Thorsten Marquardt Eur J Hum Genet 2012 20: 933-937; advance online publication, March 14, 2012; 10.1038/ejhg.2012.36 Abstract | Full Text SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations Chris MJ van Uum, Servi JC Stevens, Joseph CFM Dreesen, Marion Drüsedau, Hubert J Smeets, Bertien Hollanders-Crombach, Christine EM de Die-Smulders, Joep PM Geraedts, John JM Engelen and Edith Coonen Eur J Hum Genet 2012 20: 938-944; advance online publication, February 29, 2012; 10.1038/ejhg.2012.27 Abstract | Full Text Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O Madalina Raducu, Jonathan Baets, Oihane Fano, Rudy Van Coster and Jesús Cruces Eur J Hum Genet 2012 20: 945-952; advance online publication, March 14, 2012; 10.1038/ejhg.2012.40 Abstract | Full Text Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines Karolina Åberg, Amit N Khachane, Gábor Rudolf, Srilaxmi Nerella, Douglas A Fugman, Jay A Tischfield and Edwin JCG van den Oord Eur J Hum Genet 2012 20: 953-955; advance online publication, February 29, 2012; 10.1038/ejhg.2012.33 Abstract | Full Text Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers Luba M Pardo, Giovanna Piras, Rosanna Asproni, Kristiaan J van der Gaag, Attilio Gabbas, Andres Ruiz-Linares, Peter de Knijff, Maria Monne, Patrizia Rizzu and Peter Heutink Eur J Hum Genet 2012 20: 956-964; advance online publication, February 29, 2012; 10.1038/ejhg.2012.22 Abstract | Full Text A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families Lisbeth Venø Kruse, Mette Nyegaard, Ulla Christensen, Steffen Møller-Larsen, Annette Haagerup, Mette Deleuran, Lars Gudmund Hansen, Stine Krogh Venø, Dirk Goossens, Jurgen Del-Favero and Anders Dupont Børglum Eur J Hum Genet 2012 20: 965-972; advance online publication, March 14, 2012; 10.1038/ejhg.2012.46 Abstract | Full Text A family-based association test to detect gene–gene interactions in the presence of linkage Lizzy De Lobel, Lutgarde Thijs, Tatiana Kouznetsova, Jan A Staessen and Kristel Van Steen Eur J Hum Genet 2012 20: 973-980; advance online publication, March 14, 2012; 10.1038/ejhg.2012.45 Abstract | Full Text Short Reports Top Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study François Eisinger, Roxane Fabre, Christine Lasset, Dominique Stoppa-Lyonnet, Claire Julian-Reynier and Catherine Nogues Eur J Hum Genet 2012 20: 981-983; advance online publication, February 29, 2012; 10.1038/ejhg.2012.37 Abstract | Full Text Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne and Anders Oldfors Eur J Hum Genet 2012 20: 984-985; advance online publication, March 7, 2012; 10.1038/ejhg.2012.39 Abstract | Full Text A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family Jeroen Knijnenburg, Yolande van Bever, Lorette O M Hulsman, Chantal A P van Kempen, Galhana M Bolman, Rosa Laura E van Loon, H Berna Beverloo and Laura J C M van Zutven Eur J Hum Genet 2012 20: 986-989; advance online publication, March 7, 2012; 10.1038/ejhg.2012.43 Abstract | Full Text Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 Nadége Bondurand, Virginie Fouquet, Viviane Baral, Laure Lecerf, Natalie Loundon, Michel Goossens, Benedicte Duriez, Philippe Labrune and Veronique Pingault Eur J Hum Genet 2012 20: 990-994; advance online publication, February 29, 2012; 10.1038/ejhg.2012.29 Abstract | Full Text Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzoni and Elena Parrini Eur J Hum Genet 2012 20: 995-998; advance online publication, February 15, 2012; 10.1038/ejhg.2012.21 Abstract | Full Text Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis Andreas Leidenroth, Hanne Sørmo Sorte, Gregor Gilfillan, Melanie Ehrlich, Robert Lyle and Jane E Hewitt Eur J Hum Genet 2012 20: 999-1003; advance online publication, February 29, 2012; 10.1038/ejhg.2012.42 Abstract | Full Text Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes Simone de Jong, Kristel R van Eijk, Dave W L H Zeegers, Eric Strengman, Esther Janson, Jan H Veldink, Leonard H van den Berg, Wiepke Cahn, René S Kahn, Marco P M Boks, Roel A Ophoff and The PGC Schizophrenia (GWAS) Consortium Eur J Hum Genet 2012 20: 1004-1008; advance online publication, March 21, 2012; 10.1038/ejhg.2012.38 Abstract | Full Text Book Review Top All you ever wanted to know about teratogens and more Dr  Kristin Becker Eur J Hum Genet 2012 20: 1009; 10.1038/ejhg.2012.87 Full Text Corrigenda Top Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos C F M Dreesen, Martine De Rycke, Inge Liebaers, Joep P M Geraedts, Christine E M De Die-Smulders and Stéphane Viville on behalf of the BruMaStra PGD working group Eur J Hum Genet 2012 20: 1010; 10.1038/ejhg.2012.122 Full Text Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation Sinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, Anna Hackett, Sarah Edkins, F Lucy Raymond, Charles E Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P Andrew Futreal, Michael R Stratton and Jozef Gecz Eur J Hum Genet 2012 20: 1010; 10.1038/ejhg.2012.114 Full Text Advertisement Take part in our reader survey for a chance to win a MacBook Air As a reader of NPG's clinical, academic and society-owned journals, we invite you to take part in a survey on your use of our journals and their associated websites. 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