Top cited articles
Acceptance rate:
19%
Time to first decision:
6 days*
Time to first decision with review:
46 days*
Impact Factor (JCR):
4
Impact Factor rank (JCR):
47/171
Citescore:
9.6
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
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
Axenfeld-Rieger syndrome: more than meets the eye
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
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)
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice