Intro Pullout Text Widget

Journal of Medical Genetics

is a leading human genetics journal publishing global authoritative research and reviews
Impact Factor: 5.945
Citescore: 10.1
All metrics >>

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.

From January 2023, Journal of Medical Genetics will publish solely online. Find out more >>

Journal of Medical Genetics is a Plan S compliant Transformative Journal.

Latest Content


The Journal of Medical Genetics accepts submissions of a wide range of article types, including original research, review and short reports.
The Author Information section provides specific article requirements to help you turn your research into an article suitable for JMG.
Information is also provided on editorial policies and open access.

Journal of Medical Genetics Learning

In collaboration with BMJ Learning, Journal of Medical Genetics offers high-quality continuing medical education for doctors and other healthcare professionals.


All Journal of Medical Genetics Multiple Choice Questions are listed on BMJ Learning. You can also find a list of our modules by title on our learning hub >>


Our latest module is Detection of cryptic balanced chromosomal rearrangements using high- Banked resolution optical genome mapping


Blog Posts