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

European Journal of Human Genetics

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

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