Top cited articles

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

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

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

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

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

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

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
de Bruijn, Suzanne E.; Smits, Jeroen J.; Liu, Chang. et al
10.1136/jmedgenet-2020-106863

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela. et al
10.1136/jmedgenet-2020-107595

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. et al
10.1136/jmedgenet-2020-107317

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
Frank, Daniel N.; Giese, Arnaud P. J.; Hafren, Lena. et al
10.1136/jmedgenet-2020-106844

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. et al
10.1136/jmedgenet-2020-106867

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Fernandez-Alvarez, Paula; Codina-Sola, Marta; Valenzuela, Irene. et al
10.1136/jmedgenet-2020-107604

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

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

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Ravenscroft, Gina; Clayton, Joshua S.; Faiz, Fathimath. et al
10.1136/jmedgenet-2020-106901

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam. et al
10.1136/jmedgenet-2019-106249

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

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

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
Leuzzi, Vincenzo; Chiarotti, Flavia; Nardecchia, Francesca. et al
10.1136/jmedgenet-2019-106278

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