Top Cited Articles

Global microarray profiling identified hsa_circ_0064428 as a potential immune-associated prognosis biomarker for hepatocellular carcinoma
Weng, Qiaoyou; Chen, Minjiang; Li, Maoquan. et al
10.1136/jmedgenet-2018-105440

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
Wang, Weili; Tu, Chaofeng; Nie, Hongchuan. et al
10.1136/jmedgenet-2019-106031

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Butler, Merlin G.; Hartin, Samantha N.; Hossain, Waheeda A. et al
10.1136/jmedgenet-2018-105301

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Crawford, Karen; Bracher-Smith, Matthew; Owen, David. et al
10.1136/jmedgenet-2018-105477

Long-read sequencing identified repeat expansions in the 5 ‘ UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Deng, Jianwen; Gu, Muliang; Miao, Yu. et al
10.1136/jmedgenet-2019-106268

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
Mu, Jian; Wang, Wenjing; Chen, Biaobang. et al
10.1136/jmedgenet-2018-105936

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Mueller, Noomi; Sassa, Takayuki; Morales-Gonzalez, Susanne. et al
10.1136/jmedgenet-2018-105711

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility
Liu, Chunyu; Lv, Mingrong; He, Xiaojin. et al
10.1136/jmedgenet-2019-106011

Exosomes derived from exhausted CD8+T cells impaired the anticancer function of normal CD8+T cells
Wang, Xiaochen; Shen, Haiyuan; He, Qifeng. et al
10.1136/jmedgenet-2018-105439

Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease
Doykov, Ivan D.; Heywood, Wendy E.; Nikolaenko, Valeria. et al
10.1136/jmedgenet-2019-106030

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Zeng, Sheng; Zhang, Mei-yun; Wang, Xue-jing. et al
10.1136/jmedgenet-2018-105484

Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella
He, Xiaojin; Li, Weiyu; Wu, Huan. et al
10.1136/jmedgenet-2018-105486

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
Germain, Dominique P.; Oliveira, Joao Paulo; Bichet, Daniel G. et al
10.1136/jmedgenet-2019-106467

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
Knapp, Karen M.; Sullivan, Rosie; Murray, Jennie. et al
10.1136/jmedgenet-2019-106396

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

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
Kim, Yoon-Myung; Yum, Mi-Sun; Heo, Sun Hee. et al
10.1136/jmedgenet-2019-106132

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Fassad, Mahmoud R.; Patel, Mitali P.; Shoemark, Amelia. et al
10.1136/jmedgenet-2019-106501

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

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
Dong, Xinran; Liu, Bo; Yang, Lin. et al
10.1136/jmedgenet-2019-106377

Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
Wang, Wenjing; Dong, Jie; Chen, Biaobang. et al
10.1136/jmedgenet-2019-106379