European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 2

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TABLE OF CONTENTS Volume 24, Issue 2 (February 2016) In this issue Letter Articles Short Reports Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letter Top Exposing participants? Population biobanks go geo Jasper Adriaan Bovenberg, Bartha Maria Knoppers, Anna Hansell and Kees de Hoogh Eur J Hum Genet 2016 24: 155-156; advance online publication, March 25, 2015; 10.1038/ejhg.2015.43 Full Text Articles Top Telemedicine uptake among Genetics Professionals in Europe: room for expansion Ellen Otten, Erwin Birnie, Anneke M Lucassen, Adelita V Ranchor and Irene M Van Langen Eur J Hum Genet 2016 24: 157-163; advance online publication, April 22, 2015; 10.1038/ejhg.2015.83 Abstract | Full Text A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status Melissa Noke, Sarah Peters, Alison Wearden and Fiona Ulph Eur J Hum Genet 2016 24: 164-170; advance online publication, May 27, 2015; 10.1038/ejhg.2015.104 Abstract | Full Text Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?EJHGOPEN Kim C A Holtkamp, Merel C van Maarle, Maria J E Schouten, Wybo J Dondorp, Phillis Lakeman and Lidewij Henneman Eur J Hum Genet 2016 24: 171-177; advance online publication, May 13, 2015; 10.1038/ejhg.2015.97 Abstract | Full Text High acceptance of an early dyslexia screening test involving genetic analyses in Germany Arndt Wilcke, Bent Müller, Gesa Schaadt, Holger Kirsten, Johannes Boltze and MEMBERS OF THE LEGASCREEN CONSORTIUM Eur J Hum Genet 2016 24: 178-182; advance online publication, June 3, 2015; 10.1038/ejhg.2015.103 Abstract | Full Text (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Cirillo Silengo, Lidia Larizza, Andrea Riccio and Giovanni Battista Ferrero Eur J Hum Genet 2016 24: 183-190; advance online publication, April 22, 2015; 10.1038/ejhg.2015.88 Abstract | Full Text Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction Ingrid Brænne, Mariana Kleinecke, Benedikt Reiz, Elisabeth Graf, Tim Strom, Thomas Wieland, Marcus Fischer, Thorsten Kessler, Christian Hengstenberg, Thomas Meitinger, Jeanette Erdmann and Heribert Schunkert Eur J Hum Genet 2016 24: 191-197; advance online publication, June 3, 2015; 10.1038/ejhg.2015.100 Abstract | Full Text A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9 Emma Tham, Erik A Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner, Peter Lindgren, Anna Lindstrand, Anna Wedell, Margareta Albåge, Katarzyna Zielinska, Ann Nordgren, Nikos Papadogiannakis, Gen Nishimura and Giedre Grigelioniene Eur J Hum Genet 2016 24: 198-207; advance online publication, May 13, 2015; 10.1038/ejhg.2015.91 Abstract | Full Text Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B Mariana Acuña, Pablo Martínez, Carol Moraga, Xingxuan He, Mauricio Moraga, Bessie Hunter, Peter Nuernberg, Rodrigo A Gutiérrez, Mauricio González, Edward H Schuchman, José Luis Santos, Juan Francisco Miquel, Paulina Mabe and Silvana Zanlungo Eur J Hum Genet 2016 24: 208-213; advance online publication, April 29, 2015; 10.1038/ejhg.2015.89 Abstract | Full Text Joubert syndrome: genotyping a Northern European patient cohort Hester Y Kroes, Glen R Monroe, Bert van der Zwaag, Karen J Duran, Carolien G de Kovel, Mark J van Roosmalen, Magdalena Harakalova, Ies J Nijman, Wigard P Kloosterman, Rachel H Giles, Nine VAM Knoers and Gijs van Haaften Eur J Hum Genet 2016 24: 214-220; advance online publication, April 29, 2015; 10.1038/ejhg.2015.84 Abstract | Full Text Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests Emmanuelle Kieffer, Jean-Christophe Nicod, Nathalie Gardes, Claire Kastner, Nicolas Becker, Catherine Celebi, Olivier Pirrello, Catherine Rongières, Isabelle Koscinski, Philippe Gosset and Céline Moutou Eur J Hum Genet 2016 24: 221-227; advance online publication, May 13, 2015; 10.1038/ejhg.2015.96 Abstract | Full Text A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field Rajae El Malti, Hui Liu, Bérénice Doray, Christel Thauvin, Alice Maltret, Claire Dauphin, Miguel Gonçalves-Rocha, Michel Teboul, Patricia Blanchet, Joëlle Roume, Céline Gronier, Corinne Ducreux, Magali Veyrier, François Marçon, Philippe Acar, Jean-René Lusson, Marilyne Levy, Constance Beyler, Jacqueline Vigneron, Marie-Pierre Cordier-Alex, François Heitz, Damien Sanlaville, Damien Bonnet and Patrice Bouvagnet Eur J Hum Genet 2016 24: 228-236; advance online publication, May 27, 2015; 10.1038/ejhg.2015.105 Abstract | Full Text LRP5 variants may contribute to ADPKD Wybrich R Cnossen, René HM te Morsche, Alexander Hoischen, Christian Gilissen, Hanka Venselaar, Soufi Mehdi, Carsten Bergmann, Monique Losekoot, Martijn H Breuning, Dorien JM Peters, Joris A Veltman and Joost PH Drenth Eur J Hum Genet 2016 24: 237-242; advance online publication, April 29, 2015; 10.1038/ejhg.2015.86 Abstract | Full Text Genetics of GNE myopathy in the non-Jewish Persian population Alireza Haghighi, Shahriar Nafissi, Abrar Qurashi, Zheng Tan, Hosein Shamshiri, Yalda Nilipour, Amirreza Haghighi, Robert J Desnick and Ruth Kornreich Eur J Hum Genet 2016 24: 243-251; advance online publication, May 13, 2015; 10.1038/ejhg.2015.78 Abstract | Full Text Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice Elisa Frullanti, Sonia Amabile, Maria Grazia Lolli, Anna Bartolini, Gabriella Livide, Elisa Landucci, Francesca Mari, Flora M Vaccarino, Francesca Ariani, Luca Massimino, Alessandra Renieri and Ilaria Meloni Eur J Hum Genet 2016 24: 252-257; advance online publication, May 13, 2015; 10.1038/ejhg.2015.79 Abstract | Full Text High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing Laura Pölsler, Heidi Fiegl, Katharina Wimmer, Willi Oberaigner, Albert Amberger, Pia Traunfellner, Raphael J Morscher, Ingrid Weber, Christine Fauth, Annekatrin Wernstedt, Barbara Sperner-Unterweger, Anne Oberguggenberger, Michael Hubalek, Christian Marth and Johannes Zschocke Eur J Hum Genet 2016 24: 258-262; advance online publication, May 27, 2015; 10.1038/ejhg.2015.108 Abstract | Full Text Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes Lude Franke, Hanane el Bannoudi, Diahann T S L Jansen, Klaas Kok, Gosia Trynka, Dorothee Diogo, Morris Swertz, Karin Fransen, Rachel Knevel, Javier Gutierrez-Achury, Lisbeth Ärlestig, Jeffrey D Greenberg, Joel Kremer, Dimitrios A Pappas, Alexandros Kanterakis, Rinse K Weersma, Annette H M van der Helm-van Mil, Viktor Guryev, Solbritt Rantapää-Dahlqvist, Peter K Gregersen, Robert M Plenge, Cisca Wijmenga, Tom W-J Huizinga, Andreea Ioan-Facsinay, Rene E M Toes and Alexandra Zhernakova Eur J Hum Genet 2016 24: 263-270; advance online publication, May 13, 2015; 10.1038/ejhg.2015.95 Abstract | Full Text Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases Miguel A Varela, Helen J Curtis, Andrew GL Douglas, Suzan M Hammond, Aisling J O'Loughlin, Maria J Sobrido, Janine Scholefield and Matthew JA Wood Eur J Hum Genet 2016 24: 271-276; advance online publication, May 20, 2015; 10.1038/ejhg.2015.94 Abstract | Full Text Genomics and metabolomics of muscular mass in a community-based sample of UK females Michael Korostishevsky, Claire J Steves, Ida Malkin, Timothy Spector, Frances MK Williams and Gregory Livshits Eur J Hum Genet 2016 24: 277-283; advance online publication, April 22, 2015; 10.1038/ejhg.2015.85 Abstract | Full Text Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypesEJHGOPEN Katherine S Ruth, Purdey J Campbell, Shelby Chew, Ee Mun Lim, Narelle Hadlow, Bronwyn GA Stuckey, Suzanne J Brown, Bjarke Feenstra, John Joseph, Gabriela L Surdulescu, Hou Feng Zheng, J Brent Richards, Anna Murray, Tim D Spector, Scott G Wilson and John RB Perry Eur J Hum Genet 2016 24: 284-290; advance online publication, May 27, 2015; 10.1038/ejhg.2015.102 Abstract | Full Text Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility lociEJHGOPEN Ciara Coleman, Emma M Quinn, Anthony W Ryan, Judith Conroy, Valerie Trimble, Nasir Mahmud, Nicholas Kennedy, Aiden P Corvin, Derek W Morris, Gary Donohoe, Colm O'Morain, Padraic MacMathuna, Valerie Byrnes, Clifford Kiat, Gosia Trynka, Cisca Wijmenga, Dermot Kelleher, Sean Ennis, Richard JL Anney and Ross McManus Eur J Hum Genet 2016 24: 291-297; advance online publication, April 29, 2015; 10.1038/ejhg.2015.87 Abstract | Full Text Short Reports Top The use of whole-exome sequencing to disentangle complex phenotypesEJHGOPEN Hywel J Williams, John R Hurst, Louise Ocaka, Chela James, Caroline Pao, Estelle Chanudet, Francesco Lescai, Horia C Stanescu, Robert Kleta, GOSgene, Elisabeth Rosser, Chiara Bacchelli and Philip Beales Eur J Hum Genet 2016 24: 298-301; advance online publication, June 10, 2015; 10.1038/ejhg.2015.121 Abstract | Full Text A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2 Evelina Fedorenko, Angela Morgan, Elizabeth Murray, Annie Cardinaux, Cristina Mei, Helen Tager-Flusberg, Simon E Fisher and Nancy Kanwisher Eur J Hum Genet 2016 24: 302-306; advance online publication, July 15, 2015; 10.1038/ejhg.2015.149 Abstract | Full Text Refined phylogenetic structure of an abundant East Asian Y-chromosomal haplogroup O*-M134 Chao Ning, Shi Yan, Kang Hu, Yin-Qiu Cui and Li Jin Eur J Hum Genet 2016 24: 307-309; advance online publication, August 26, 2015; 10.1038/ejhg.2015.183 Abstract | Full Text Corrigendum Top A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2 Evelina Fedorenko, Angela Morgan, Elizabeth Murray, Annie Cardinaux, Cristina Mei, Helen Tager-Flusberg, Simon E Fisher and Nancy Kanwisher Eur J Hum Genet 2016 24: 310; 10.1038/ejhg.2015.230 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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