European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n11

TABLE OF CONTENTS Volume 26, Issue 11 In this issue Viewpoint Correspondence Article Brief Communication Clinical Utility Gene Card Also new AOP Viewpoint Before progressing from "exomes" to "genomes"... don't forget splicing variants Samiha S. Shaikh, Michael S. Nahorski, Harjeet Rai & C. Geoffrey Woods European Journal of Human Genetics 2018 26 :1559 - 1562; July 12, 2018; 10.1038/s41431-018-0214-3 Abstract | Full Text Correspondence Genetic testing for DADA2: How can we avoid missing patients? Hafize Emine Sönmez, Ezgi Deniz Batu, Ekim Z. Taşkiran, Mehmet Alikaşifoğlu, Yelda Bilginer et al. European Journal of Human Genetics 2018 26 :1563 - 1565; September 11, 2018; 10.1038/s41431-018-0240-1 Abstract | Full Text Reply to Sönmez et al. Mélanie Rama, Isabelle Touitou & Guillaume Sarrabay European Journal of Human Genetics 2018 26 :1564 - 1565; September 11, 2018; 10.1038/s41431-018-0242-z Abstract | Full Text Article Whole-exome sequencing in intellectual disability; cost before and after a diagnosis Terry Vrijenhoek, Eline M. Middelburg, Glen R. Monroe, Koen L. I. van Gassen, Joost W. Geenen et al. European Journal of Human Genetics 2018 26 :1566 - 1571; June 29, 2018; 10.1038/s41431-018-0203-6 Abstract | Full Text Current practices for access, compensation, and prioritization in biobanks. Results from an interview study Holger Langhof, Hannes Kahrass, Thomas Illig, Roland Jahns & Daniel Strech European Journal of Human Genetics 2018 26 :1572 - 1581; August 08, 2018; 10.1038/s41431-018-0228-x Abstract | Full Text Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency Anshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere et al. European Journal of Human Genetics 2018 26 :1582 - 1587; July 05, 2018; 10.1038/s41431-018-0209-0 Abstract | Full Text Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity Thanuja Selvanayagam, Susan Walker, Matthew J. Gazzellone, Barbara Kellam, Cheryl Cytrynbaum et al. European Journal of Human Genetics 2018 26 :1588 - 1596; July 05, 2018; 10.1038/s41431-018-0189-0 Abstract | Full Text Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes Stéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, Pierre Macquere, François Lecoquierre et al. European Journal of Human Genetics 2018 26 :1597 - 1602; July 02, 2018; 10.1038/s41431-018-0207-2 Abstract | Full Text Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy Judith M. A. Verhagen, Job H. Veldman, Paul A. van der Zwaag, Jan H. von der Thüsen, Erwin Brosens et al. European Journal of Human Genetics 2018 26 :1603 - 1610; July 09, 2018; 10.1038/s41431-018-0208-1 Abstract | Full Text Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri et al. European Journal of Human Genetics 2018 26 :1611 - 1622; July 13, 2018; 10.1038/s41431-018-0135-1 Abstract | Full Text De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon et al. European Journal of Human Genetics 2018 26 :1623 - 1634; June 20, 2018; 10.1038/s41431-018-0206-3 Abstract | Full Text De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 Sarah A. Cumming, Mark J. Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam et al. European Journal of Human Genetics 2018 26 :1635 - 1647; July 02, 2018; 10.1038/s41431-018-0156-9 Abstract | Full Text Functional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness Raya Al Maskari, Iris Hardege, Sarah Cleary, Nicki Figg, Ye Li et al. European Journal of Human Genetics 2018 26 :1648 - 1657; August 08, 2018; 10.1038/s41431-018-0226-z Abstract | Full Text Comparison of methods for transcriptome imputation through application to two common complex diseases James J. Fryett, Jamie Inshaw, Andrew P. Morris & Heather J. Cordell European Journal of Human Genetics 2018 26 :1658 - 1667; July 05, 2018; 10.1038/s41431-018-0176-5 Abstract | Full Text Multi-level genomic analyses suggest new genetic variants involved in human memory Zijian Zhu, Biqing Chen, Hongming Yan, Wan Fang, Qin Zhou et al. European Journal of Human Genetics 2018 26 :1668 - 1678; July 03, 2018; 10.1038/s41431-018-0201-8 Abstract | Full Text Application of the parametric bootstrap for gene-set analysis of gene–environment interactions Brandon J. Coombes & Joanna M. Biernacka European Journal of Human Genetics 2018 26 :1679 - 1686; August 08, 2018; 10.1038/s41431-018-0236-x Abstract | Full Text Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences Lan-Hai Wei, Ling-Xiang Wang, Shao-Qing Wen, Shi Yan, Rebekah Canada et al. European Journal of Human Genetics 2018 26 :1687 - 1696; July 10, 2018; 10.1038/s41431-018-0211-6 Abstract | Full Text Inferring biogeographic ancestry with compound markers of slow and fast evolving polymorphisms Amandine Moriot, Carla Santos, Ana Freire-Aradas, Christopher Phillips & Diana Hall European Journal of Human Genetics 2018 26 :1697 - 1707; July 11, 2018; 10.1038/s41431-018-0215-2 Abstract | Full Text Brief Communication Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? Susanna Negrisolo, Andrea Carraro, Giulia Fregonese, Elisa Benetti, Franz Schaefer et al. European Journal of Human Genetics 2018 26 :1708 - 1712; July 04, 2018; 10.1038/s41431-018-0213-4 Abstract | Full Text Clinical Utility Gene Card Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card Cynthia Yu-Wai-Man, Gavin Arno, John Brookes, Julian Garcia-Feijoo, Peng Tee Khaw et al. European Journal of Human Genetics 2018 26 :1713 - 1718; August 08, 2018; 10.1038/s41431-018-0227-y Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. 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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