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Journal of Medical Genetics 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...

Public Health Genomics Knowledge Base (v1.0) Incidental findings Last Updated: May 26, 2016 DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing. Birch Patricia et al. Journal of genetic counseling 2016 May...

Balasubramanian, M. orcid.org/0000-0003-1488-3695 , Willoughby, J., Fry, A.E. et al. (10 more authors) (2017) Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in...

The European Human Genetics Conference 2016 is taking place in Barcelona, Spain, on May 21-24. We’ll be there and we have prepared a number of scientific activities to take place. ESHG has become one of the premier events in the field of human genetics...

A closer look at severe loss-of-function mutations revealed the contribution of both inherited (yellow pieces) and new (red piece) mutations to the puzzling genetic architecture of schizophrenia. Image Credit: Lab of Maria Karayiorgou, MD, and Joseph...