Top cited articles

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

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
Li, Weiyu; Wu, Huan; Li, Fuping. et al
10.1136/jmedgenet-2019-106344

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations
El Khattabi, Laila Allach; Heide, Solveig; Caberg, Jean-Hubert; et al
10.1136/jmedgenet-2018-105389

Genetic T-type calcium channelopathies
Weiss, Norbert; Zamponi, Gerald W.
10.1136/jmedgenet-2019-106163

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy
Brun, Francesca; Gigli, Marta; Graw, Sharon L.; et al
10.1136/jmedgenet-2019-106394

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
Revencu, Nicole; Fastre, Elodie; Ravoet, Marie; et al
10.1136/jmedgenet-2019-106024

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease
Leonard, Hampton; Blauwendraat, Cornelis; Krohn, Lynne. et al
10.1136/jmedgenet-2019-106283

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Walsh, Tom; Casadei, Silvia; Munson, Katherine M.; et al
10.1136/jmedgenet-2020-107320

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
Lv, Mingrong; Liu, Wangjie; Chi, Wangfei; et al
10.1136/jmedgenet-2019-106479

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Gordon, Kristiana; Varney, Ruth; Keeley, Vaughan. et al
10.1136/jmedgenet-2019-106084

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait
Caburet, Sandrine; Heddar, Abdelkader; Dardillac, Elodie. et al
10.1136/jmedgenet-2019-106672

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
Fostira, Florentia; Kostantopoulou, Irene; Apostolou, Paraskevi. et al
10.1136/jmedgenet-2019-106189

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
Krenn, Martin; Wagner, Matias; Hotzy, Christoph; et al
10.1136/jmedgenet-2019-106658

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Lokulo-Sodipe, Oluwakemi; Ballard, Lisa; Child, Jenny; et al
10.1136/jmedgenet-2019-106561

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Brcic, Lucija; Underwood, Jack F. G.; Kendall, Kimberley M.; et al
10.1136/jmedgenet-2019-106676

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
Nowak, Albina; Beuschlein, Felix; Sivasubramaniam, Visnuka; et al
10.1136/jmedgenet-2020-107338

Adult phenotype of KCNQ2 encephalopathy
Boets, Stephanie; Johannesen, Katrine M.; Destree, Anne; et al
10.1136/jmedgenet-2020-107449

Homozygous variants in SYCP2L cause premature ovarian insufficiency
He, Wen-Bin; Tan, Chen; Zhang, Ya-Xin; et al
10.1136/jmedgenet-2019-106789

Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
Vissing, Christoffer Rasmus; Rasmussen, Torsten Bloch; Dybro, Anne Mette; et al
10.1136/jmedgenet-2020-107178

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
Ragamin, Aviel; Gomes, Carolina C.; Bindels-de Heus, Karen; et al
10.1136/jmedgenet-2020-107427