European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n8

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TABLE OF CONTENTS Volume 25, Issue 8 (August 2017) In this issue Letters Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letters Top Update on a previously reported male with a FLNA missense mutation Maie Walsh, Geoffrey Hebbard and Alison Trainer Eur J Hum Genet 2017 25: 905-906; advance online publication, January 4, 2017; 10.1038/ejhg.2016.156 Full Text Reply to Walsh et al Tomoki Kawai, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Takahiro Yasumi, Ryuta Nishikomori, Shinya Okamoto and Toshio Heike Eur J Hum Genet 2017 25: 907; advance online publication, January 4, 2017; 10.1038/ejhg.2016.192 Full Text Articles Top Transparency of genetic testing services for ‘health, wellness and lifestyle’: analysis of online prepurchase information for UK consumers Jacqueline A Hall, Rena Gertz, Joan Amato and Claudia Pagliari Eur J Hum Genet 2017 25: 908-917; advance online publication, May 3, 2017; 10.1038/ejhg.2017.75 Abstract | Full Text Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe Milena Paneque, Clara Serra-Juhé, Rebecka Pestoff, Christophe Cordier, João Silva, Ramona Moldovan and Charlotta Ingvoldstad Eur J Hum Genet 2017 25: 918-923; advance online publication, May 17, 2017; 10.1038/ejhg.2017.76 Abstract | Full Text Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring Lukas Soellner, Matthias Begemann, Franziska Degenhardt, Annegret Geipel, Thomas Eggermann and Elisabeth Mangold Eur J Hum Genet 2017 25: 924-929; advance online publication, May 31, 2017; 10.1038/ejhg.2017.94 Abstract | Full Text Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David and Bertrand Isidor Eur J Hum Genet 2017 25: 930-934; advance online publication, June 14, 2017; 10.1038/ejhg.2017.93 Abstract | Full Text New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke and Karin Buiting Eur J Hum Genet 2017 25: 935-945; advance online publication, June 21, 2017; 10.1038/ejhg.2017.91 Abstract | Full Text Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke and Paul Kruszka Eur J Hum Genet 2017 25: 946-951; advance online publication, May 17, 2017; 10.1038/ejhg.2017.86 Abstract | Full Text Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development Elisa Merello, Lorenzo Tattini, Alberto Magi, Andrea Accogli, Gianluca Piatelli, Marco Pavanello, Domenico Tortora, Armando Cama, Zoha Kibar, Valeria Capra and Patrizia De Marco Eur J Hum Genet 2017 25: 952-959; advance online publication, May 17, 2017; 10.1038/ejhg.2017.71 Abstract | Full Text Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B Haack, Elisabeth Graf, Tim M Strom, Thomas Meitinger and Wasim Ahmad Eur J Hum Genet 2017 25: 960-965; advance online publication, May 10, 2017; 10.1038/ejhg.2017.83 Abstract | Full Text Progressive hereditary spastic paraplegia caused by a homozygous KY mutation Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir and Ohad S Birk Eur J Hum Genet 2017 25: 966-972; advance online publication, May 10, 2017; 10.1038/ejhg.2017.85 Abstract | Full Text Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategyEJHGOPEN Henne Holstege, Sven J van der Lee, Marc Hulsman, Tsz Hang Wong, Jeroen GJ van Rooij, Marjan Weiss, Eva Louwersheimer, Frank J Wolters, Najaf Amin, André G Uitterlinden, Albert Hofman, M Arfan Ikram, John C van Swieten, Hanne Meijers-Heijboer, Wiesje M van der Flier, Marcel JT Reinders, Cornelia M van Duijn and Philip Scheltens Eur J Hum Genet 2017 25: 973-981; advance online publication, May 24, 2017; 10.1038/ejhg.2017.87 Abstract | Full Text Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population Dina Vojinovic, Nathalie Brison, Shahzad Ahmad, Ilse Noens, Irene Pappa, Lennart C Karssen, Henning Tiemeier, Cornelia M van Duijn, Hilde Peeters and Najaf Amin Eur J Hum Genet 2017 25: 982-987; advance online publication, May 17, 2017; 10.1038/ejhg.2017.82 Abstract | Full Text A rare-variant test for high-dimensional dataEJHGOPEN Marika Kaakinen, Reedik Mägi, Krista Fischer, Jani Heikkinen, Marjo-Riitta Järvelin, Andrew P Morris and Inga Prokopenko Eur J Hum Genet 2017 25: 988-994; advance online publication, May 24, 2017; 10.1038/ejhg.2017.90 Abstract | Full Text Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve and the FREX consortium Eur J Hum Genet 2017 25: 995-1003; advance online publication, June 21, 2017; 10.1038/ejhg.2017.92 Abstract | Full Text The last sea nomads of the Indonesian archipelago: genomic origins and dispersalEJHGOPEN Pradiptajati Kusuma, Nicolas Brucato, Murray P Cox, Thierry Letellier, Abdul Manan, Chandra Nuraini, Philippe Grangé, Herawati Sudoyo and François-Xavier Ricaut Eur J Hum Genet 2017 25: 1004-1010; advance online publication, May 17, 2017; 10.1038/ejhg.2017.88 Abstract | Full Text Short Reports Top Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de ROUX and Sylvie Manouvrier-Hanu Eur J Hum Genet 2017 25: 1011-1014; advance online publication, June 7, 2017; 10.1038/ejhg.2017.73 Abstract | Full Text Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfectaEJHGOPEN Claire EL Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn and Alan J Mighell Eur J Hum Genet 2017 25: 1015-1019; advance online publication, May 17, 2017; 10.1038/ejhg.2017.79 Abstract | Full Text Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree Kiran Tawana, Jun Wang, Péter A Király, Krisztián Kállay, Gábor Benyó, Marianna Zombori, Judit Csomor, Ahad Al Seraihi, Ana Rio-Machin, András Matolcsy, Claude Chelala, Jamie Cavenagh, Jude Fitzgibbon and Csaba Bödör Eur J Hum Genet 2017 25: 1020-1024; advance online publication, May 17, 2017; 10.1038/ejhg.2017.80 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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