Top cited articles
Acceptance rate:
19%
Time to first decision:
6 days*
Time to first decision with review:
52 days*
Impact Factor (JCR):
3.6
Impact Factor rank (JCR):
57/191
Citescore:
7.6
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study
Variant reclassification and clinical implications
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
Germline pathogenic SMARCA4 variants in neuroblastoma
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis
Position statement of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) on APC I1307K and cancer risk
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum