Top cited articles

Assessing performance of pathogenicity predictors using clinically relevant variant datasets Gunning, Adam C.; Fryer, Verity; Fasham, James; Crosby, Andrew H.; Ellard, Sian; Baple, Emma L.; Wright, Caroline F. 10.1136/jmedgenet-2020-107003 Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease Deng, Jianwen; Zhou, Binbin; Yu, Jiaxi; Han, Xiaochen; Fu, Jianhui; Li, Xiaobin; Xie, Xufang; Zhu, Min; Zheng, Yilei; Guo, Xueyu; Li, Pidong; Wang, Qingqing; Liu, Jing; Zhang, Wei; Yuan, Yun; Yao, Sheng; Wang, Zhaoxia; Hong, Daojun 10.1136/jmedgenet-2020-107649 Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Zhao, Sen; Zhang, Yuanqiang; Chen, Weisheng. et al 10.1136/jmedgenet-2019-106823 Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population Dong, Hui; Chandratre, Khyati; Qin, Yue; Zhang, Jing; Tian, Xiaoqing; Rong, Ce; Wang, Ning; Guo, Maoni; Zhao, Guoping; Wang, San Ming 10.1136/jmedgenet-2020-106970 Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH plus ) and new phenotypic expansions involving CDH Scott, Tiana M.; Campbell, Ian M.; Hernandez-Garcia, Andres; Lalani, Seema R.; Liu, Pengfei; Shaw, Chad A.; Rosenfeld, Jill A.; Scott, Daryl A. 10.1136/jmedgenet-2020-107317 Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis McCann, Emily P.; Henden, Lyndal; Fifita, Jennifer A.; Zhang, Katharine Y.; Grima, Natalie; Bauer, Denis C.; Chan Moi Fat, Sandrine; Twine, Natalie A.; Pamphlett, Roger; Kiernan, Matthew C.; Rowe, Dominic B.; Williams, Kelly L.; Blair, Ian P. 10.1136/jmedgenet-2020-106866 Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations Bhaskaran, Shanmuga Priya; Huang, Teng; Rajendran, Barani Kumar; Guo, Maoni; Luo, Jiangtao; Qin, Zixin; Zhao, Bojin; Chian, Jiasheng; Li, Suicheng; Wang, San Ming 10.1136/jmedgenet-2020-107299 Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group Aronson, Melyssa; Colas, Chrystelle; Shuen, Andrew; Hampel, Heather; Foulkes, William D.; Baris Feldman, Hagit; Goldberg, Yael; Muleris, Martine; Wolfe Schneider, Kami; McGee, Rose B.; Jasperson, Kory; Rangaswami, Arun; Brugieres, Laurence; Tabori, Uri 10.1136/jmedgenet-2020-107627 Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease Nowak, Albina; Beuschlein, Felix; Sivasubramaniam, Visnuka; Kasper, David; Warnock, David G. 10.1136/jmedgenet-2020-107338 Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations Garrett, Alice; Durkie, Miranda; Callaway, Alison; Burghel, George J.; Robinson, Rachel; Drummond, James; Torr, Bethany; Cubuk, Cankut; Berry, Ian R.; Wallace, Andrew J.; Ellard, Sian; Eccles, Diana M.; Tischkowitz, Marc; Hanson, Helen; Turnbull, Clare 10.1136/jmedgenet-2020-107248

Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors Lee, Andrew; Yang, Xin; Tyrer, Jonathan; Gentry-Maharaj, Aleksandra; Ryan, Andy. et al 10.1136/jmedgenet-2021-107904 Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics Ravenscroft, Gina; Clayton, Joshua S.; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di. et al 10.1136/jmedgenet-2020-106901 Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva. et al 10.1136/jmedgenet-2020-107595 SETD1B-associated neurodevelopmental disorder Roston, Alexandra; Evans, Dan; Gill, Harinder; McKinnon, Margaret; Isidor, Bertrand; Cogne, Benjamin; Mwenifumbo, Jill; van Karnebeek, Clara; An, Jianghong; Jones, Steven J. M.; Farrer, Matthew; Demos, Michelle; Connolly, Mary; Gibson, William T. 10.1136/jmedgenet-2019-106756 SOX10: 20 years of phenotypic plurality and current understanding of its developmental function Pingault, Veronique; Zerad, Lisa; Bertani-Torres, William; Bondurand, Nadege 10.1136/jmedgenet-2021-108105 Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations Lefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon. et al 10.1136/jmedgenet-2020-106867 Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A > G variant de Laat, Paul; Rodenburg, Richard R.; Roeleveld, Nel; Koene, Saskia; Smeitink, Jan A.; Janssen, Mirian C. H. 10.1136/jmedgenet-2019-106800 Adult phenotype of KCNQ2 encephalopathy Boets, Stephanie; Johannesen, Katrine M.; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Moller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah 10.1136/jmedgenet-2020-107449 Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes Yoon, Sook-Yee; Wong, Siu Wan; Lim, Joanna; Ahmad, Syuhada; Mariapun, Shivaani; Padmanabhan, Heamanthaa; Hassan, Nur Tiara; Lau, Shao Yan; Ch’ng, Gaik-Siew; Haniffa, Muzhirah; Ong, Winnie P.; Rethanavelu, Kavitha; Moey, Lip Hen; Keng, Wee Teik; Omar, Jamil. et al 10.1136/jmedgenet-2020-107416 Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute. et al 10.1136/jmedgenet-2021-108064