European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n5

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Advertisement Our revolutionary AmplideX technology is expanding to new, high complexity targets, including those implicated in myotonic dystrophy, spinal muscular atrophy and Huntington's disease.  Visit us at the 2018 ESHG Annual Meeting     TABLE OF CONTENTS Volume 26, Issue 5 In this issue Review Article Correspondence Article Brief Communication Clinical Utility Gene Card Also new AOP   Review Article How is genetic testing evaluated? A systematic review of the literature Erica Pitini, Corrado De Vito, Carolina Marzuillo, Elvira D’Andrea, Annalisa Rosso et al. European Journal of Human Genetics 2018 26 :605 - 615; February 08, 2018; 10.1038/s41431-018-0095-5   Abstract | Full Text Correspondence Incidental inequity Kristen J. Nowak, Alicia Bauskis, Hugh J. Dawkins & Gareth Baynam European Journal of Human Genetics 2018 26 :616 - 617; February 15, 2018; 10.1038/s41431-018-0101-y   Abstract | Full Text Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation Peter Witters, Jeroen Breckpot, François Foulquier, Graem Preston, Jaak Jaeken et al. European Journal of Human Genetics 2017 26 :618 - 621; November 30, 2017; 10.1038/s41431-017-0044-8   Abstract | Full Text Article A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study Erin Turbitt, Paola P Chrysostomou, Holly L Peay, Alexis R Heidlebaugh, Lawrence M Nelson et al. European Journal of Human Genetics 2018 26 :622 - 630; February 16, 2018; 10.1038/s41431-018-0105-7   Abstract | Full Text The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, Robert Reihs, Heimo Mueller et al. European Journal of Human Genetics 2018 26 :631 - 643; February 02, 2018; 10.1038/s41431-017-0085-z   Abstract | Full Text Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne et al. European Journal of Human Genetics 2018 26 :644 - 651; February 16, 2018; 10.1038/s41431-018-0099-1   Abstract | Full Text Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study Michael P Mackley, Edward Blair, Michael Parker, Jenny C Taylor, Hugh Watkins et al. European Journal of Human Genetics 2018 26 :652 - 659; February 13, 2018; 10.1038/s41431-018-0106-6   Abstract | Full Text Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes Laura Andreasen, Gustav Ahlberg, Chuyi Tang, Charlotte Andreasen, Jacob P. Hartmann et al. European Journal of Human Genetics 2018 26 :660 - 668; February 02, 2018; 10.1038/s41431-017-0092-0   Abstract | Full Text Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome Carolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, Peng Zhang, Gary Steel et al. European Journal of Human Genetics 2018 26 :669 - 675; February 16, 2018; 10.1038/s41431-017-0055-5   Abstract | Full Text Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion Cristina Mei, Evelina Fedorenko, David J. Amor, Amber Boys, Caitlyn Hoeflin et al. European Journal of Human Genetics 2018 26 :676 - 686; February 14, 2018; 10.1038/s41431-018-0102-x   Abstract | Full Text A clinical and molecular characterisation of CRB1-associated maculopathy Kamron N. Khan, Anthony Robson, Omar A. R. Mahroo, Gavin Arno, Chris F. Inglehearn et al. European Journal of Human Genetics 2018 26 :687 - 694; February 01, 2018; 10.1038/s41431-017-0082-2   Abstract | Full Text Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck et al. European Journal of Human Genetics 2018 26 :695 - 708; February 20, 2018; 10.1038/s41431-018-0098-2   Abstract | Full Text Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics Ivana Nedeljkovic, Elena Carnero-Montoro, Lies Lahousse, Diana A. van der Plaat, Kim de Jong et al. European Journal of Human Genetics 2018 26 :709 - 722; February 08, 2018; 10.1038/s41431-017-0089-8   Abstract | Full Text Improved estimation of SNP heritability using Bayesian multiple-phenotype models Najla Saad Elhezzani European Journal of Human Genetics 2018 26 :723 - 734; February 13, 2018; 10.1038/s41431-018-0100-z   Abstract | Full Text Brief Communication Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes Erin Turbitt, Megan C Roberts, Rebecca A Ferrer, Jennifer M Taber, Katie L Lewis et al. European Journal of Human Genetics 2018 26 :735 - 739; February 23, 2018; 10.1038/s41431-018-0118-2   Abstract | Full Text Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell et al. European Journal of Human Genetics 2018 26 :740 - 744; February 16, 2018; 10.1038/s41431-018-0114-6   Abstract | Full Text ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu et al. European Journal of Human Genetics 2018 26 :745 - 748; February 16, 2018; 10.1038/s41431-018-0107-5   Abstract | Full Text Clinical Utility Gene Card CUGC for Duchenne muscular dystrophy (DMD) David J. Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing et al. European Journal of Human Genetics 2018 26 :749 - 757; January 12, 2018; 10.1038/s41431-017-0013-2   Abstract | Full Text Clinical utility gene card for McArdle disease Rhonda L. Taylor, Mark Davis, Emma Turner, Astrid Brull, Tomás Pinos et al. European Journal of Human Genetics 2018 26 :758 - 764; January 25, 2018; 10.1038/s41431-017-0070-6   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. 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