Thursday, August 10, 2017

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

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European Journal of Human Genetics


Volume 25, Issue 9 (September 2017)

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Short Reports

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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



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



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


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

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