Comprehensive somatic genome alterations of urachal carcinoma (27 March, 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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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)
New disease loci:
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy (25 March, 2017)
Mutations in EFL1_, an _SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome (22 March, 2017)
Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity (17 March, 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)
PALB2_, _CHEK2 and ATM rare variants and cancer risk: data from COGS (5 September, 2016)
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)