Top cited articles
Acceptance rate:
19%
Time to first decision:
6 days*
Time to first decision with review:
42 days*
Impact Factor (JCR):
5.945
Impact Factor rank (JCR):
28/175
Citescore:
10.1
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Axenfeld-Rieger syndrome: more than meets the eye
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
SETD1B-associated neurodevelopmental disorder
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes