Journal of Medical Genetics: 53 (10)

Commentary

Original article:
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study
(12 May, 2016)
Inga Plaskocinska, Hannah Shipman, James Drummond, Edward Thompson, Vanessa Buchanan, Barbara Newcombe, Charlotte Hodgkin, Elisa Barter, Paul Ridley, Rita Ng, Suzanne Miller, Adela Dann, Victoria Licence, Hayley Webb, Li Tee Tan, Margaret Daly, Sarah Ayers, Barnaby Rufford, Helena Earl, Christine Parkinson, Timothy Duncan, Mercedes Jimenez-Linan, Gurdeep S Sagoo, Stephen Abbs, Nicholas Hulbert-Williams, Paul Pharoah, Robin Crawford, James D Brenton, Marc Tischkowitz

Original article:
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
(6 June, 2016)
Ruizhi Feng, Zheng Yan, Bin Li, Min Yu, Qing Sang, Guoling Tian, Yao Xu, Biaobang Chen, Ronggui Qu, Zhaogui Sun, Xiaoxi Sun, Li Jin, Lin He, Yanping Kuang, Nicholas J Cowan, Lei Wang

Original article:
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene
(20 May, 2016)
Jung-Young Park, Elizabeth L Virts, Anna Jankowska, Constanze Wiek, Mohamed Othman, Sujata C Chakraborty, Gail H Vance, Fowzan S Alkuraya, Helmut Hanenberg, Paul R Andreassen
Original article: Phenome-wide association study maps new diseases to the human major histocompatibility complex region (10 June, 2016) Free
Jixia Liu, Zhan Ye, John G Mayer, Brian A Hoch, Clayton Green, Loren Rolak, Christopher Cold, Seik-Soon Khor, Xiuwen Zheng, Taku Miyagawa, Katsushi Tokunaga, Murray H Brilliant, Scott J Hebbring

Original article: Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria (12 May, 2016)
Hanna Mandel, Shotaro Saita, Simon Edvardson, Chaim Jalas, Avraham Shaag, Dorit Goldsher, Euvgeni Vlodavsky, Thomas Langer, Orly Elpeleg
Original article:
Mutations in HECW2 are associated with intellectual disability and epilepsy
(22 June, 2016)
Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk
Short report:
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
(21 June, 2016)
Wayne Mah, Swapnil K Sonkusare, Tracy Wang, Bouziane Azeddine, Mihaela Pupavac, Jian Carrot-Zhang, Kwangseok Hong, Jacek Majewski, Edward J Harvey, Laura Russell, Colin Chalk, David S Rosenblatt, Mark T Nelson, Chantal Séguin