Home/Top cited articles

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 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