European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n1

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TABLE OF CONTENTS Volume 26, Issue 1 (January 2018) In this issue Policy Review Article Viewpoint Article Brief Communication Also new AOP   Sign up for e-alerts Recommend to your library Web feed Subscribe Policy One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans Heidi C. Howard, Carla G. van El, Francesca Forzano, Dragica Radojkovic, Emmanuelle Rial-Sebbag et al. European Journal of Human Genetics 2017 26 :1 - 11; November 30, 2017; 10.1038/s41431-017-0024-z   Abstract | Full Text Review Article Recent developments in genetics and medically assisted reproduction: from research to clinical applications J. C. Harper, K. Aittomäki, P. Borry, M. C. Cornel, G. de Wert et al. European Journal of Human Genetics 2017 26 :12 - 33; December 04, 2017; 10.1038/s41431-017-0016-z   Abstract | Full Text Viewpoint Mucopolysaccharidosis at play? Agata Fiumara European Journal of Human Genetics 2017 26 :34 - 35; November 28, 2017; 10.1038/s41431-017-0036-8   Abstract | Full Text Article Points to consider for laboratories reporting results from diagnostic genomic sequencing D. F. Vears, K. Sénécal, A. J. Clarke, L. Jackson, A. M. Laberge et al. European Journal of Human Genetics 2017 26 :36 - 43; November 28, 2017; 10.1038/s41431-017-0043-9   Abstract | Full Text Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study   European Journal of Human Genetics 2017 26 :44 - 53; November 21, 2017; 10.1038/s41431-017-0030-1   Abstract | Full Text A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch et al. European Journal of Human Genetics 2017 26 :54 - 63; December 05, 2017; 10.1038/s41431-017-0039-5   Abstract | Full Text HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker et al. European Journal of Human Genetics 2017 26 :64 - 74; November 27, 2017; 10.1038/s41431-017-0038-6   Abstract | Full Text Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei et al. European Journal of Human Genetics 2017 26 :75 - 84; December 11, 2017; 10.1038/s41431-017-0035-9   Abstract | Full Text 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher et al. European Journal of Human Genetics 2017 26 :85 - 93; November 28, 2017; 10.1038/s41431-017-0037-7   Abstract | Full Text Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 Richard JLF Lemmers, Patrick J van der Vliet, Judit Balog, Jelle J Goeman, Wibowo Arindrarto et al. European Journal of Human Genetics 2017 26 :94 - 106; November 21, 2017; 10.1038/s41431-017-0015-0   Abstract | Full Text Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome Nicolas Lebrun, Irina Giurgea, Alice Goldenberg, Anne Dieux, Alexandra Afenjar et al. European Journal of Human Genetics 2017 26 :107 - 116; December 04, 2017; 10.1038/s41431-017-0033-y   Abstract | Full Text Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families Tuuli Mustonen, Eeva-Kaisa Schmidt, Miko Valori, Pentti J Tienari, Sari Atula et al. European Journal of Human Genetics 2017 26 :117 - 123; November 22, 2017; 10.1038/s41431-017-0026-x   Abstract | Full Text Mitochondrial genomes uncover the maternal history of the Pamir populations Min-Sheng Peng, Weifang Xu, Jiao-Jiao Song, Xing Chen, Xierzhatijiang Sulaiman et al. European Journal of Human Genetics 2017 26 :124 - 136; November 29, 2017; 10.1038/s41431-017-0028-8   Abstract | Full Text Brief Communication Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations Julia Taeubner, Triantafyllia Brozou, Nan Qin, Jasmin Bartl, Sebastian Ginzel et al. European Journal of Human Genetics 2017 26 :137 - 142; December 11, 2017; 10.1038/s41431-017-0048-4   Abstract | Full Text The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability Jérémie Mortreux, Tiffany Busa, Dominique P. Germain, Gwenaël Nadeau, Jacques Puechberty et al. European Journal of Human Genetics 2017 26 :143 - 148; November 29, 2017; 10.1038/s41431-017-0018-x   Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. 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