Top cited articles
Acceptance rate:
19%
Time to first decision:
6 days*
Time to first decision with review:
46 days*
Impact Factor (JCR):
3.6
Impact Factor rank (JCR):
57/191
Citescore:
7.6
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Axenfeld-Rieger syndrome: more than meets the eye
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
Gain-of-function p.F28S variant in <i>RAC3</i> disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists