Journal of Medical Genetics: 58 (2)

Editorial

Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent
(30 April, 2020)
Claire Forde, Kate Brunstrom, Emma Woodward, Naomi Bowers, Marta Pereira, Andrew J Wallace, Fiona Lalloo, Elaine F Harkness, D Gareth Evans
Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors
(13 April, 2020)
Zheng Zhao, Tao Fu, Jiyue Gao, Yang Xu, Xue Wu, Wenjuan Chen, Xuesong Li, Ruoying Yu, Yang Washington Shao, Man Li, Yu Yao

Original research: Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis (14 May, 2020) Free
Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
(6 July, 2020)
Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics
(5 June, 2020)
Maram Arafat, Avi Harlev, Iris Har-Vardi, Eliahu Levitas, Tsvia Priel, Moran Gershoni, Charles Searby, Val C Sheffield, Eitan Lunenfeld, Ruti Parvari

Original research: 15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection (6 May, 2020)
Xiaoliang Li, Guocheng Shi, Yang Li, Xiaoqing Zhang, Ying Xiang, Teng Wang, Yanxin Li, Huiwen Chen, Qihua Fu, Hong Zhang, Bo Wang

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait
(1 June, 2020)
Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Héléne Creux, Marie Lambert, Sébastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S Lopez, Micheline Misrahi

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
(22 June, 2020)
Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
(7 May, 2020)
Johannes Münch, Karin M Kirschner, Hendrik Schlee, Cornelia Kraus, Ria Schönauer, Wenjun Jin, Diana Le Duc, Holger Scholz, Jan Halbritter