A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family (31 January, 2017)
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 worldwide.
The journal has been adopted as the official journal of the Canadian College of Medical Geneticists.
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability (24 January, 2017)
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss (17 January, 2017)
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature (18 January, 2017)
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause (13 January, 2017)
Precise long non-coding RNA modulation in visual maintenance and impairment (21 December, 2016)
PALB2_, _CHEK2 and ATM rare variants and cancer risk: data from COGS (5 September, 2016)
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome (5 December, 2016)
Diagnostic value of exome and whole genome sequencing in craniosynostosis (24 November, 2016)