European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n10

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TABLE OF CONTENTS Volume 25, Issue 10 (October 2017) In this issue Letters Articles Short Reports Clinical Utility Gene Card Also new AOP   Sign up for e-alerts Recommend to your library Web feed Subscribe Letters Top Lysenko and Russian genetics: an alternative view Zhengrong Wang and Yongsheng Liu Eur J Hum Genet 2017 25: 1097-1098; advance online publication, July 26, 2017; 10.1038/ejhg.2017.117 Full Text Lysenko and Russian genetics: Reply to Wang & Liu Peter S Harper Eur J Hum Genet 2017 25: 1098; advance online publication, July 26, 2017; 10.1038/ejhg.2017.118 Full Text Articles Top Participation in interdisciplinary meetings on genetic diagnostics (NGS) Tom Koole, Lotte van Burgsteden, Paulien Harms, 5GPM-team, Cleo C van Diemen and Irene M van Langen Eur J Hum Genet 2017 25: 1099-1105; advance online publication, August 23, 2017; 10.1038/ejhg.2017.111 Abstract | Full Text Recontacting in clinical practice: the views and expectations of patients in the United KingdomEJHGOPEN Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen and Susan E Kelly Eur J Hum Genet 2017 25: 1106-1112; advance online publication, August 2, 2017; 10.1038/ejhg.2017.122 Abstract | Full Text Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users Shachar Zuckerman, David A Zeevi, Sigal Gooldin and Gheona Altarescu Eur J Hum Genet 2017 25: 1113-1117; advance online publication, July 26, 2017; 10.1038/ejhg.2017.113 Abstract | Full Text Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome Tuba Dinçer, Gülden Yorgancıoğlu-Budak, Akgün Ölmez, İdris Er, Yavuz Dodurga, Özmert MA Özdemir, Bayram Toraman, Adem Yıldırım, Nuran Sabir, Nurten A Akarsu, C Nur Semerci and Ersan Kalay Eur J Hum Genet 2017 25: 1118-1125; advance online publication, August 23, 2017; 10.1038/ejhg.2017.120 Abstract | Full Text Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaEJHGOPEN Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen and Jane A Hurst Eur J Hum Genet 2017 25: 1126-1133; advance online publication, July 26, 2017; 10.1038/ejhg.2017.107 Abstract | Full Text Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg, Claudia Weiß, Corinne Boehm, Kristina Prelog, Robert Ouvrier and John Christodoulou Eur J Hum Genet 2017 25: 1134-1141; advance online publication, July 26, 2017; 10.1038/ejhg.2017.119 Abstract | Full Text Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia Bassam Abu-Libdeh, Liza Douiev, Sarah Amro, Maher Shahrour, Asaf Ta-Shma, Chaya Miller, Orly Elpeleg and Ann Saada Eur J Hum Genet 2017 25: 1142-1146; advance online publication, August 2, 2017; 10.1038/ejhg.2017.112 Abstract | Full Text Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur and Sophie Krieger Eur J Hum Genet 2017 25: 1147-1154; advance online publication, July 26, 2017; 10.1038/ejhg.2017.116 Abstract | Full Text Identification of ASAH1 as a susceptibility gene for familial keloids Regie Lyn P Santos-Cortez, Ying Hu, Fanyue Sun, Fairouz Benahmed-Miniuk, Jian Tao, Jitendra K Kanaujiya, Samuel Ademola, Solomon Fadiora, Victoria Odesina, Deborah A Nickerson, Michael J Bamshad, Peter B Olaitan, Odunayo M Oluwatosin, Suzanne M Leal and Ernst J Reichenberger University of Washington Center for Mendelian Genomics Eur J Hum Genet 2017 25: 1155-1161; advance online publication, July 26, 2017; 10.1038/ejhg.2017.121 Abstract | Full Text Short Reports Top Decreased male reproductive success in association with mitochondrial dysfunction Mika H Martikainen, John P Grady, Yi Shiau Ng, Charlotte L Alston, Grainne S Gorman, Robert W Taylor, Robert McFarland and Doug M Turnbull Eur J Hum Genet 2017 25: 1162-1164; advance online publication, August 16, 2017; 10.1038/ejhg.2017.114 Abstract | Full Text Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy Marzia De Bortoli, Chiara Calore, Alessandra Lorenzon, Martina Calore, Giulia Poloni, Elisa Mazzotti, Ilaria Rigato, Martina Perazzolo Marra, Paola Melacini, Sabino Iliceto, Gaetano Thiene, Cristina Basso, Luciano Daliento, Domenico Corrado, Alessandra Rampazzo and Barbara Bauce Eur J Hum Genet 2017 25: 1165-1169; advance online publication, July 12, 2017; 10.1038/ejhg.2017.109 Abstract | Full Text Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumorEJHGOPEN Arnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, Stéphanie Puget, Christelle Dufour, Pascale Schneider, Annie Laquerrière, Thierry Frebourg, Damien Bodet, Emmanuèle Lechapt-Zalcman, Gaëlle Pierron, Olivier Delattre, Pascale Varlet and Franck Bourdeaut Eur J Hum Genet 2017 25: 1170-1172; advance online publication, July 19, 2017; 10.1038/ejhg.2017.115 Abstract | Full Text Population-specific genetic variation in large sequencing data sets: why more data is still better Jeroen G J van Rooij, Mila Jhamai, Pascal P Arp, Stephan C A Nouwens, Marijn Verkerk, Albert Hofman, M Arfan Ikram, Annemieke J Verkerk, Joyce B J van Meurs, Fernando Rivadeneira, André G Uitterlinden and Robert Kraaij Eur J Hum Genet 2017 25: 1173-1175; advance online publication, July 19, 2017; 10.1038/ejhg.2017.110 Abstract | Full Text Clinical Utility Gene Card Top Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1) Christiane Stieber, Sven Cichon, Markus Magerl and Markus M Nöthen Eur J Hum Genet 2017 25: e1-e4; advance online publication, July 5, 2017; 10.1038/ejhg.2017.104 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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