European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n9

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TABLE OF CONTENTS Volume 25, Issue 9 (September 2017) In this issue Policy Letters Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Policy Top Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odysseyEJHGOPEN Takeya Adachi, Kazuo Kawamura, Yoshihiko Furusawa, Yuji Nishizaki, Noriaki Imanishi, Senkei Umehara, Kazuo Izumi and Makoto Suematsu Eur J Hum Genet 2017 25: 1025-1028; advance online publication, July 5, 2017; 10.1038/ejhg.2017.106 Abstract | Full Text Letters Top England uses a competency-based approach to consent for health interventions Christopher Harling Eur J Hum Genet 2017 25: 1029; advance online publication, May 31, 2017; 10.1038/ejhg.2017.53 Full Text Reply to C Harling Karine Sénécal, Kristof Thys, Danya F Vears, Kristof Van Assche, Bartha M Knoppers and Pascal Borry Eur J Hum Genet 2017 25: 1030; advance online publication, May 31, 2017; 10.1038/ejhg.2017.89 Full Text Articles Top Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dmitiri J Stavropoulos, Raveen Basran, Leslie Steele, Nicole Parkinson, Ronald Grant, Paul Thorner, Armando Lorenzo and Rosanna Weksberg Eur J Hum Genet 2017 25: 1031-1039; advance online publication, July 12, 2017; 10.1038/ejhg.2017.102 Abstract | Full Text Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge and Brunhilde Wirth Eur J Hum Genet 2017 25: 1040-1048; advance online publication, June 21, 2017; 10.1038/ejhg.2017.98 Abstract | Full Text Yunis-Varón syndrome caused by biallelic VAC14 mutations Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Care4Rare Consortium, Philippe M Campeau, Kym M Boycott, Jean Michaud, André BP van Kuilenburg, Sacha Ferdinandusse and David A Dyment Eur J Hum Genet 2017 25: 1049-1054; advance online publication, June 21, 2017; 10.1038/ejhg.2017.99 Abstract | Full Text Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli and Renato Polimanti Eur J Hum Genet 2017 25: 1055-1060; advance online publication, June 21, 2017; 10.1038/ejhg.2017.95 Abstract | Full Text Genetically predicted high body mass index is associated with increased gastric cancer risk Yingying Mao, Caiwang Yan, Qun Lu, Meng Zhu, Fei Yu, Cheng Wang, Juncheng Dai, Hongxia Ma, Zhibin Hu, Hongbing Shen and Guangfu Jin Eur J Hum Genet 2017 25: 1061-1066; advance online publication, June 21, 2017; 10.1038/ejhg.2017.103 Abstract | Full Text Sexual dimorphism in the genetic influence on human childlessnessEJHGOPEN Renske M Verweij, Melinda C Mills, Felix C Tropf, René Veenstra, Anastasia Nyman and Harold Snieder Eur J Hum Genet 2017 25: 1067-1074; advance online publication, July 5, 2017; 10.1038/ejhg.2017.105 Abstract | Full Text Short Reports Top The perceived impact of the European registration system for genetic counsellors and nurses Milena Paneque, Ramona Moldovan, Christophe Cordier, Clara Serra-Juhé, Irene Feroce, Sara Pasalodos, Emmanuelle Haquet, Debby Lambert, Inga Bjørnevoll and Heather Skirton Eur J Hum Genet 2017 25: 1075-1077; advance online publication, May 17, 2017; 10.1038/ejhg.2017.84 Abstract | Full Text Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restrictionEJHGOPEN Renée Carroll, Raman Kumar, Marie Shaw, Jennie Slee, Vera M Kalscheuer, Mark A Corbett and Jozef Gecz Eur J Hum Genet 2017 25: 1078-1082; advance online publication, June 14, 2017; 10.1038/ejhg.2017.97 Abstract | Full Text A novel de novo mutation in MYT1, the unique OAVS gene identified so far Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, Maria I Melaragno, Silvia Bragagnolo, Ana B A Perez, Benoit Arveiler, Didier Lacombe and Caroline Rooryck Eur J Hum Genet 2017 25: 1083-1086; advance online publication, June 14, 2017; 10.1038/ejhg.2017.101 Abstract | Full Text Insertion of Alu elements at a PTEN hotspot in Cowden syndrome Louise Crivelli, Virginie Bubien, Natalie Jones, Jennifer Chiron, Françoise Bonnet, Emmanuelle Barouk-Simonet, Patrice Couzigou, Nicolas Sevenet, Frédéric Caux and Michel Longy Eur J Hum Genet 2017 25: 1087-1091; advance online publication, May 17, 2017; 10.1038/ejhg.2017.81 Abstract | Full Text Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack and Felix Distelmaier Eur J Hum Genet 2017 25: 1092-1095; advance online publication, June 14, 2017; 10.1038/ejhg.2017.96 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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