Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications. The journal has been adopted as the official journal of the Canadian College of Medical Geneticists.
LATEST ARTICLES
- Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
- Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
- Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
- Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2
- Systematic reanalysis of copy number losses of uncertain clinical significance
POPULAR ARTICLES
- Genotype-phenotype correlations
- Review
- Novel disease loci
- Novel disease loci