Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration (26 April, 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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Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy (8 April, 2017)
New disease loci:
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa (25 April, 2017)
Diagnostic value of exome and whole genome sequencing in craniosynostosis (24 November, 2016)
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome (5 December, 2016)
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum (13 January, 2017)
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family (31 January, 2017)