Journal of Medical Genetics: 55 (9)

Cancer genetics

Review: Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap (24 July, 2018)
Jeanna M McCuaig, Tracy L Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D Altman, James Bentley, Marcus Q Bernardini, Beatrice Cormier, Hal Hirte, Katharina Kieser, Andree MacMillan, Wendy S Meschino, Karen Panabaker, Renee Perrier, Diane Provencher, Kasmintan A Schrader, Kimberly Serfas, Eva Tomiak, Nora Wong, Sean S Young, Walter Henri Gotlieb, Paul Hoskins, Raymond H Kim

Original article: Genetic obesity: next-generation sequencing results of 1230 patients with obesity (3 July, 2018) Free
Lotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, Mesut Savas, Olga H van der Baan-Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J Meijers-Heijboer, Nine V A M Knoers, Hans Kristian Ploos van Amstel, Elisabeth F C van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M van Haelst

Original article: Biochemical and molecular characterisation of neurological Wilson disease (4 April, 2018)
Go Hun Seo, Yoon-Myung Kim, Seak Hee Oh, Sun Ju Chung, In Hee Choi, Gu-Hwan Kim, Mi-Sun Yum, Jin-Ho Choi, Kyung Mo Kim, Tae-Sung Ko, Beom Hee Lee, Han-Wook Yoo
Original article: Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome (18 May, 2018)
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia Kimonis

Original article:
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy
(15 May, 2018)
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
Original article: Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses (22 May, 2018)
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal

Original article: XRCC2 mutation causes meiotic arrest, azoospermia and infertility (24 July, 2018)
Yongjia Yang, Jihong Guo, Lei Dai, Yimin Zhu, Hao Hu, Lihong Tan, Weijian Chen, Desheng Liang, Jingliang He, Ming Tu, Kewei Wang, Lingqian Wu
Short report: Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy (16 April, 2018)
Ilse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, Friederike Körber, Jörg Dötsch, Holger Thiele, Janine Altmüller, Peter Nürnberg, Christoph Hünseler, Sebahattin Cirak