European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n12

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TABLE OF CONTENTS Volume 25, Issue 12 (December 2017) In this issue Articles Book Reviews Also new AOP   Sign up for e-alerts Recommend to your library Web feed Subscribe Articles The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, Anneliene H Jonker, Lilian PL Lau et al. European Journal of Human Genetics 2017 25: 1293 - 1302; November 20, 2017; 10.1038/s41431-017-0008-z   Abstract | Full Text Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray Robin Z. Hayeems, Jasmin Bhawra, Kate Tsiplova, M. Stephen Meyn, Nasim Monfared et al. European Journal of Human Genetics 2017 25: 1303 - 1312; November 20, 2017; 10.1038/s41431-017-0020-3   Abstract | Full Text Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy Tomas Robyns, Cuno Kuiperi, Jeroen Breckpot, Koenraad Devriendt, Erika Souche et al. European Journal of Human Genetics 2017 25: 1313 - 1323; October 10, 2017; 10.1038/s41431-017-0004-3   Abstract | Full Text A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity Rafiullah Rafiullah, Alyssa B. Long, Anna A. Ivanova, Hazrat Ali, Simone Berkel et al. European Journal of Human Genetics 2017 25: 1324 - 1334; November 15, 2017; 10.1038/s41431-017-0031-0   Abstract | Full Text Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities Nara Sobreira, Martha Brucato, Li Zhang, Christine Ladd-Acosta, Chrissie Ongaco et al. European Journal of Human Genetics 2017 25: 1335 - 1344; November 07, 2017; 10.1038/s41431-017-0023-0   Abstract | Full Text Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers Lisa Golmard, Laurent Castéra, Sophie Krieger, Virginie Moncoutier, Khadija Abidallah et al. European Journal of Human Genetics 2017 25: 1345 - 1353; November 08, 2017; 10.1038/s41431-017-0021-2   Abstract | Full Text WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data   European Journal of Human Genetics 2017 25: 1354 - 1363; November 08, 2017; 10.1038/s41431-017-0005-2   Abstract | Full Text Exome Pool-Seq in neurodevelopmental disorders Bernt Popp, Arif B. Ekici, Christian T. Thiel, Juliane Hoyer, Antje Wiesener et al. European Journal of Human Genetics 2017 25: 1364 - 1376; November 20, 2017; 10.1038/s41431-017-0022-1   Abstract | Full Text Next-generation sequencing of patients with congenital anosmia Anna Alkelai, Tsviya Olender, Catherine Dode, Sagit Shushan, Pavel Tatarskyy et al. European Journal of Human Genetics 2017 25: 1377 - 1387; November 13, 2017; 10.1038/s41431-017-0014-1   Abstract | Full Text Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice Bruno Ghirotto Nunes, Flávio Vieira Loures, Heloisa Maria Siqueira Bueno, Erica Baroni Cangussu, Ernesto Goulart et al. European Journal of Human Genetics 2017 25: 1388 - 1396; October 27, 2017; 10.1038/s41431-017-0017-y   Abstract | Full Text Book Reviews The many "I" inside of "Me" Domenico Coviello & Virginia Bizzarri European Journal of Human Genetics 2017 25: 1397 - 1398; November 21, 2017; 10.1038/s41431-017-0040-z   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. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. 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