European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n2

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TABLE OF CONTENTS Volume 25, Issue 2 (February 2017) In this issue News and Commentary Policy Letters Articles Short Reports Clinical Utility Gene Cards Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe News and Commentary Top Of dogs and men Detlef Bockenhauer and Robert Kleta Eur J Hum Genet 2016 25: 161; 10.1038/ejhg.2016.161 Full Text Policy Top ‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseasesEJHGOPEN Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, Lilian PL Lau, Gareth Baynam, Petra Kaufmann, Paul Lasko, Hugh JS Dawkins, Christopher P Austin and Kym M Boycott on behalf of the IRDiRC Scientific Committees Eur J Hum Genet 2016 25: 162-165; advance online publication, October 26, 2016; 10.1038/ejhg.2016.137 Abstract | Full Text Letters Top The Dutch legal approach regarding health care decisions involving minors in the NGS days Elcke J Kranendonk, Raoul C Hennekam and Martine Corrette Ploem Eur J Hum Genet 2016 25: 166; advance online publication, November 23, 2016; 10.1038/ejhg.2016.159 Full Text Reply to Kranendonk et al K Sénécal, K Thys, D F Vears, K Van Assche, B M Knoppers and P Borry Eur J Hum Genet 2016 25: 166-167; advance online publication, November 23, 2016; 10.1038/ejhg.2016.160 Full Text BRCA1/2 germline testing in non-mucinous epithelial ovarian carcinoma: changing international practice and implications for service provision Maria Coakley, Vicki Cleary, Nicholas Power and Seamus O'Reilly Eur J Hum Genet 2016 25: 167-168; advance online publication, October 19, 2016; 10.1038/ejhg.2016.138 Full Text Articles Top Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen and Irene M van Langen Eur J Hum Genet 2016 25: 169-175; advance online publication, November 30, 2016; 10.1038/ejhg.2016.155 Abstract | Full Text Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesEJHGOPEN Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian ER Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber, Oliver Brandau, Maria Calvo del Castillo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad Talal Al Rifai, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Ali Alothaim, Amal Alhashem, Nouriya Al-Sannaa, Mohammed Al-Balwi, Majid Alfadhel, Arndt Rolfs and Rami Abou Jamra Eur J Hum Genet 2016 25: 176-182; advance online publication, November 16, 2016; 10.1038/ejhg.2016.146 Abstract | Full Text Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke and Dagmar Wieczorek Eur J Hum Genet 2016 25: 183-191; advance online publication, November 30, 2016; 10.1038/ejhg.2016.165 Abstract | Full Text Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung and Chun-Yiu Law Eur J Hum Genet 2016 25: 192-199; advance online publication, December 14, 2016; 10.1038/ejhg.2016.162 Abstract | Full Text Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease Carmen Martín-Sierra, Alvaro Gallego-Martinez, Teresa Requena, Lidia Frejo, Angel Batuecas-Caletrío and Jose A Lopez-Escamez Eur J Hum Genet 2016 25: 200-207; advance online publication, November 23, 2016; 10.1038/ejhg.2016.154 Abstract | Full Text Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning Kenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, Anne L Carlton, Arkadi Manukyan, Ann E Sutherland and David Wotton Eur J Hum Genet 2016 25: 208-215; advance online publication, December 7, 2016; 10.1038/ejhg.2016.164 Abstract | Full Text Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology Christoph Pröschel, Jeanne N Hansen, Adil Ali, Emily Tuttle, Michelle Lacagnina, Georgia Buscaglia, Marc W Halterman and Alex R Paciorkowski Eur J Hum Genet 2016 25: 216-221; advance online publication, December 14, 2016; 10.1038/ejhg.2016.145 Abstract | Full Text The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs Mario Van Poucke, Kimberley Stee, Sofie F M Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman and Luc Van Ham Eur J Hum Genet 2016 25: 222-226; advance online publication, December 14, 2016; 10.1038/ejhg.2016.157 Abstract | Full Text A framework for the detection of de novo mutations in family-based sequencing dataEJHGOPEN Laurent C Francioli, Mircea Cretu-Stancu, Kiran V Garimella, Menachem Fromer, Wigard P Kloosterman, Genome of the Netherlands consortium44, Kaitlin E Samocha, Benjamin M Neale, Mark J Daly, Eric Banks, Mark A DePristo and Paul IW de Bakker Eur J Hum Genet 2016 25: 227-233; advance online publication, November 23, 2016; 10.1038/ejhg.2016.147 Abstract | Full Text A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3 Siobhan Connolly, Richard Anney, Louise Gallagher and Elizabeth A Heron Eur J Hum Genet 2016 25: 234-239; advance online publication, November 23, 2016; 10.1038/ejhg.2016.153 Abstract | Full Text Guidance for the utility of linear models in meta-analysis of genetic association studies of binary phenotypesEJHGOPEN James P Cook, Anubha Mahajan and Andrew P Morris Eur J Hum Genet 2016 25: 240-245; advance online publication, November 16, 2016; 10.1038/ejhg.2016.150 Abstract | Full Text Lack of gene–language correlation due to reciprocal female but directional male admixture in Austronesians and non-Austronesians of East Timor Sibylle M Gomes, Mannis van Oven, Luis Souto, Helena Morreira, Silke Brauer, Martin Bodner, Bettina Zimmermann, Gabriela Huber, Christina Strobl, Alexander W Röck, Francisco Côrte-Real, Walther Parson and Manfred Kayser Eur J Hum Genet 2016 25: 246-252; advance online publication, August 3, 2016; 10.1038/ejhg.2016.101 Abstract | Full Text Short Reports Top Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim and Markus Schuelke Eur J Hum Genet 2016 25: 253-256; advance online publication, November 9, 2016; 10.1038/ejhg.2016.149 Abstract | Full Text Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles Annalisa Botta, Giulia Rossi, Marzia Marcaurelio, Luana Fontana, Maria Rosaria D'Apice, Francesco Brancati, Roberto Massa, Darren G Monckton, Federica Sangiuolo and Giuseppe Novelli Eur J Hum Genet 2016 25: 257-261; advance online publication, November 23, 2016; 10.1038/ejhg.2016.148 Abstract | Full Text Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner and Andreas R Janecke Eur J Hum Genet 2016 25: 262-266; advance online publication, October 26, 2016; 10.1038/ejhg.2016.144 Abstract | Full Text A method to customize population-specific arrays for genome-wide association testing Erik A Ehli, Abdel Abdellaoui, Iryna O Fedko, Charlie Grieser, Sahar Nohzadeh-Malakshah, Gonneke Willemsen, Eco JC de Geus, Dorret I Boomsma, Gareth E Davies and Jouke J Hottenga Eur J Hum Genet 2016 25: 267-270; advance online publication, November 23, 2016; 10.1038/ejhg.2016.152 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation Jaak Jaeken, Dirk J Lefeber and Gert Matthijs Eur J Hum Genet 2016 25: ; advance online publication, November 9, 2016; 10.1038/ejhg.2016.151 Full Text Clinical utility gene card for: 16p12.2 microdeletion Lucilla Pizzo, Joris Andrieux, David J Amor and Santhosh Girirajan Eur J Hum Genet 2016 25: ; advance online publication, November 16, 2016; 10.1038/ejhg.2016.158 Full Text Clinical Utility Gene Card for: Familial partial lipodystrophy Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux and Olivier Lascols Eur J Hum Genet 2016 25: ; advance online publication, August 3, 2016; 10.1038/ejhg.2016.102 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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