European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 7

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TABLE OF CONTENTS Volume 24, Issue 7 (July 2016) In this issue Editorial Policy Review Articles Short Reports Book Reviews Clinical Utility Gene Card Clinical Utility Gene Card Update Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Are you looking to get your research published for the first time? Thank you to everyone who attended our recent 'How to Get Published' session at the ESHG in Barcelona. For those who didn't make it, please see our write-up and editor-in-chief presentation which we hope will help with the publishing process.   Editorial Top IRDiRC-recommended Ségolène Aymé Eur J Hum Genet 2016 24: 955; 10.1038/ejhg.2015.236 Full Text Policy Top Big Data in medical research and EU data protection law: challenges to the consent or anonymise approach Menno Mostert, Annelien L Bredenoord, Monique C I H Biesaart and Johannes J M van Delden Eur J Hum Genet 2016 24: 956-960; advance online publication, November 11, 2015; 10.1038/ejhg.2015.239 Abstract | Full Text Review Top Lessons learned from gene identification studies in Mendelian epilepsy disorders Katia Hardies, Sarah Weckhuysen, Peter De Jonghe and Arvid Suls Eur J Hum Genet 2016 24: 961-967; advance online publication, November 25, 2015; 10.1038/ejhg.2015.251 Abstract | Full Text Articles Top Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Melissa Hill, Jo-Ann Johnson, Sylvie Langlois, Hyun Lee, Stephanie Winsor, Brigid Dineley, Marisa Horniachek, Faustina Lalatta, Luisa Ronzoni, Angela N Barrett, Henna V Advani, Mahesh Choolani, Ron Rabinowitz, Eva Pajkrt, Rachèl V van Schendel, Lidewij Henneman, Wieke Rommers, Caterina M Bilardo, Paula Rendeiro, Maria João Ribeiro, José Rocha, Ida Charlotte Bay Lund, Olav B Petersen, Naja Becher, Ida Vogel, Vigdis Stefánsdottir, Sigrun Ingvarsdottir, Helga Gottfredsdottir, Stephen Morris and Lyn S Chitty Eur J Hum Genet 2016 24: 968-975; advance online publication, November 18, 2015; 10.1038/ejhg.2015.249 Abstract | Full Text Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis Ashwini Maratha, Henning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd and Eileen Treacy Eur J Hum Genet 2016 24: 976-984; advance online publication, January 6, 2016; 10.1038/ejhg.2015.254 Abstract | Full Text Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3 Petra Liskova, Cerys J Evans, Alice E Davidson, Marketa Zaliova, Lubica Dudakova, Marie Trkova, Viktor Stranecky, Nicole Carnt, Vincent Plagnol, Andrea L Vincent, Stephen J Tuft and Alison J Hardcastle Eur J Hum Genet 2016 24: 985-991; advance online publication, October 28, 2015; 10.1038/ejhg.2015.232 Abstract | Full Text The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype Mouna Barat-Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean-Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Eric Bieth, Marie Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne-Lise Delezoide, Delphine Dupin-Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin-Coignard, Jelena Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quélin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier-Daire, Martine Le Merrer, David Geneviève and Isabelle Touitou Eur J Hum Genet 2016 24: 992-1000; advance online publication, December 2, 2015; 10.1038/ejhg.2015.250 Abstract | Full Text West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, Dorothée Ville, Nicolas Guex, Julitta de Bellescize, Clotilde Rivier, Audrey Labalme, Vincent des Portes, Patrick Edery, Marianne Till, Ioannis Xenarios, Damien Sanlaville, Johannes M Herrmann, Gaétan Lesca and Alexandre Reymond Eur J Hum Genet 2016 24: 1001-1008; advance online publication, October 21, 2015; 10.1038/ejhg.2015.227 Abstract | Full Text Identification of candidate genes for familial early-onset essential tremor Xinmin Liu, Nora Hernandez, Sergey Kisselev, Aris Floratos, Ashley Sawle, Iuliana Ionita-Laza, Ruth Ottman, Elan D Louis and Lorraine N Clark Eur J Hum Genet 2016 24: 1009-1015; advance online publication, October 28, 2015; 10.1038/ejhg.2015.228 Abstract | Full Text SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Care4Rare Canada Consortium, Kym M Boycott, Jacek Majewski and Bernard Brais Eur J Hum Genet 2016 24: 1016-1021; advance online publication, December 2, 2015; 10.1038/ejhg.2015.240 Abstract | Full Text Genome-wide gene–environment interactions on quantitative traits using family data Colleen M Sitlani, Josée Dupuis, Kenneth M Rice, Fangui Sun, Achilleas N Pitsillides, L Adrienne Cupples and Bruce M Psaty Eur J Hum Genet 2016 24: 1022-1028; advance online publication, December 2, 2015; 10.1038/ejhg.2015.253 Abstract | Full Text Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases Chuanhua Xing, Jie Huang, Yi-Hsiang Hsu, Anita L DeStefano, Nancy L Heard-Costa, Philip A Wolf, Sudha Seshadri, Douglas P Kiel, L Adrienne Cupples and Josée Dupuis Eur J Hum Genet 2016 24: 1029-1034; advance online publication, November 18, 2015; 10.1038/ejhg.2015.244 Abstract | Full Text Genome-wide association studies identify genetic loci for low von Willebrand factor levels Janine van Loon, Abbas Dehghan, Tang Weihong, Stella Trompet, Wendy L McArdle, Folkert F W Asselbergs, Ming-Huei Chen, Lorna M Lopez, Jennifer E Huffman, Frank W G Leebeek, Saonli Basu, David J Stott, Ann Rumley, Ron T Gansevoort, Gail Davies, James J F Wilson, Jacqueline C M Witteman, Xiting Cao, Anton J M de Craen, Stephan J L Bakker, Bruce M Psaty, John M Starr, Albert Hofman, J Wouter Jukema, Ian J Deary, Caroline Hayward, Pim van der Harst, Gordon D O Lowe, Aaron R Folsom, David P Strachan, Nicolas Smith, Moniek P M de Maat and Christopher O'Donnell Eur J Hum Genet 2016 24: 1035-1040; advance online publication, October 21, 2015; 10.1038/ejhg.2015.222 Abstract | Full Text Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis Christoph Sponholz, Marcel Kramer, Franziska Schöneweck, Uwe Menzel, Kolsoum Inanloo Rahatloo, Evangelos J Giamarellos-Bourboulis, Vassileios Papavassileiou, Korina Lymberopoulou, Maria Pavlaki, Ioannis Koutelidakis, Ioannis Perdios, André Scherag, Michael Bauer, Matthias Platzer and Klaus Huse Eur J Hum Genet 2016 24: 1041-1048; advance online publication, October 28, 2015; 10.1038/ejhg.2015.231 Abstract | Full Text Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration Eric Jorgenson, Ronald B Melles, Thomas J Hoffmann, Xiaoming Jia, Lori C Sakoda, Mark N Kvale, Yambazi Banda, Catherine Schaefer, Neil Risch and Ling Shen Eur J Hum Genet 2016 24: 1049-1055; advance online publication, January 6, 2016; 10.1038/ejhg.2015.247 Abstract | Full Text The Italian genome reflects the history of Europe and the Mediterranean basin Giovanni Fiorito, Cornelia Di Gaetano, Simonetta Guarrera, Fabio Rosa, Marcus W Feldman, Alberto Piazza and Giuseppe Matullo Eur J Hum Genet 2016 24: 1056-1062; advance online publication, November 11, 2015; 10.1038/ejhg.2015.233 Abstract | Full Text Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability Guangju Zhai, Jiayi Zhou, Michael O Woods, Jane S Green, Patrick Parfrey, Proton Rahman and Roger C Green Eur J Hum Genet 2016 24: 1063-1070; advance online publication, December 16, 2015; 10.1038/ejhg.2015.256 Abstract | Full Text Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz, Sultana M H Faradz, Raheel Qamar, Rob W J Collin, Thomas Rosenberg and Frans P M Cremers Eur J Hum Genet 2016 24: 1071-1079; advance online publication, December 2, 2015; 10.1038/ejhg.2015.241 Abstract | Full Text Short Reports Top Lessons from a pair of siblings with BPAN Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer and Michael C Kruer Eur J Hum Genet 2016 24: 1080-1083; advance online publication, November 18, 2015; 10.1038/ejhg.2015.242 Abstract | Full Text DNM1L-related mitochondrial fission defect presenting as refractory epilepsy Jason R Vanstone, Amanda M Smith, Skye McBride, Turaya Naas, Martin Holcik, Ghadi Antoun, Mary-Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tetreault, Care4Rare Consortium, Jacek Majewski, Stephen Baird, Kym M Boycott, David A Dyment, Alex MacKenzie and Matthew A Lines Eur J Hum Genet 2016 24: 1084-1088; advance online publication, November 25, 2015; 10.1038/ejhg.2015.243 Abstract | Full Text Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancersEJHGOPEN Anne ML Jansen, Tom van Wezel, Brendy EWM van den Akker, Marina Ventayol Garcia, Dina Ruano, Carli MJ Tops, Anja Wagner, Tom GW Letteboer, Encarna B Gómez-García, Peter Devilee, Juul T Wijnen, Frederik J Hes and Hans Morreau Eur J Hum Genet 2016 24: 1089-1092; advance online publication, December 9, 2015; 10.1038/ejhg.2015.252 Abstract | Full Text Book Reviews Top Genomic control process: development and evolution Eglė Preikšaitienė and Vaidutis Kučinskas Eur J Hum Genet 2016 24: 1093; advance online publication, November 18, 2015; 10.1038/ejhg.2015.245 Full Text The Least Likely Man: Marshall Nirenberg and the Discovery of the Genetic Code Rachel A Peat Eur J Hum Genet 2016 24: 1094; 10.1038/ejhg.2015.263 Full Text Clinical Utility Gene Card Top Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation Jaak Jaeken, Dirk J Lefeber and Gert Matthijs Eur J Hum Genet 2016 24: ; advance online publication, November 18, 2015; 10.1038/ejhg.2015.248 Full Text Clinical Utility Gene Card Update Top Clinical utility gene card for: Biotinidase deficiency—update 2015 Sébastien Küry, Vincent Ramaekers, Stéphane Bézieau and Barry Wolf Eur J Hum Genet 2016 24: ; advance online publication, November 18, 2015; 10.1038/ejhg.2015.246 Full Text Corrigenda Top Lessons from a pair of siblings with BPAN Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer and Michael C Kruer Eur J Hum Genet 2016 24: 1095; 10.1038/ejhg.2015.274 Full Text Genome-wide association studies identify genetic loci for low von Willebrand factor levels Janine van Loon, Abbas Dehghan, Tang Weihong, Stella Trompet, Wendy L McArdle, Folkert W Asselbergs, Ming-Huei Chen, Lorna M Lopez, Jennifer E Huffman, Frank W G Leebeek, Saonli Basu, David J Stott, Ann Rumley, Ron T Gansevoort, Gail Davies, James J F Wilson, Jacqueline C M Witteman, Xiting Cao, Anton J M de Craen, Stephan J L Bakker, Bruce M Psaty, John M Starr, Albert Hofman, J Wouter Jukema, Ian J Deary, Caroline Hayward, Pim van der Harst, Gordon D O Lowe, Aaron R Folsom, David P Strachan, Nicolas Smith, Moniek P M de Maat and Christopher O'Donnell Eur J Hum Genet 2016 24: 1096; 10.1038/ejhg.2016.21 Full Text International Charter of principles for sharing bio-specimens and data Deborah Mascalzoni, Edward S Dove, Yaffa Rubinstein, Hugh JS Dawkins, Anna Kole, Pauline McCormack, Simon Woods, Olaf Riess, Franz Schaefer, Hanns Lochmüller, Bartha M Knoppers and Mats Hansson Eur J Hum Genet 2016 24: 1096; 10.1038/ejhg.2015.237 Full Text Big Data in medical research and EU data protection law: challenges to the consent or anonymise approach Menno Mostert, Annelien L Bredenoord, Monique CIH Biesaart and Johannes JM van Delden Eur J Hum Genet 2016 24: 1096; 10.1038/ejhg.2016.71 Full Text Advertisement Nature Publishing Group offers a free open access funding support service to enable authors to discover and apply for article processing charge funding available to them. 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