Thursday, July 13, 2017

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

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European Journal of Human Genetics

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Volume 25, Issue 8 (August 2017)

In this issue
Short Reports

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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

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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

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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

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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

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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

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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


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

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