Open access

Association between genetic polymorphisms and endometrial cancer risk: a systematic review

Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie

10.1136/jmedgenet-2019-106529

February 17, 2020

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple

10.1136/jmedgenet-2019-106561

February 13, 2020

Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk

Dheeraj Reddy Bobbili, Peter Banda, Rejko Krüger, Patrick May

10.1136/jmedgenet-2019-106316

February 13, 2020

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Mingrong Lv, Wangjie Liu, Wangfei Chi, Xiaoqing Ni, Jiajia Wang, Huiru Cheng, Wei-Yu Li, Shenmin Yang, Huan Wu, Junqiang Zhang, Yang Gao, Chunyu Liu, Caihua Li, Chenyu Yang, Qing Tan, Dongdong Tang, Jingjing Zhang, Bing Song, Yu-Jie Chen, Qiang Li, Yading Zhong, Zhihua Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Chuanmao Zhang, Xiaojin He, Feng Zhang, Yunxia Cao

10.1136/jmedgenet-2019-106479

February 12, 2020

ATR-16 syndrome: mechanisms linking monosomy to phenotype

Christian Babbs, Jill Brown, Sharon W Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon-McIver, Cornelis L Harteveld, Jan Traeger-Synodinos, Andrew O M Wilkie, Douglas R Higgs, Veronica J Buckle

10.1136/jmedgenet-2019-106528

January 31, 2020

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen, Sujuan Wang, Xiu Xu, Wenhao Zhou, Yulan Lu

10.1136/jmedgenet-2019-106377

January 31, 2020

Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

Alexandre Buffet, Bruna Calsina, Shahida Flores, Sophie Giraud, Marion Lenglet, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický, Sophie Lejeune, Jean Louis Sadoul, Anne Barlier, Stephane Richard, Judith Favier, Nelly Burnichon, Betty Gardie, Patricia L Dahia, Mercedes Robledo, Anne-Paule Gimenez-Roqueplo

10.1136/jmedgenet-2019-106519

January 29, 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

10.1136/jmedgenet-2019-106700

January 27, 2020

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine

Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen

10.1136/jmedgenet-2019-106640

January 24, 2020

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

10.1136/jmedgenet-2019-106396

November 29, 2019