Journal of Medical Genetics
is a leading human genetics journal publishing global authoritative research and reviews
Impact Factor: 3.6
Citescore: 7.6
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Journal of Medical Genetics: 60th Anniversary
September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing! Over the past 6 decades, we have established ourselves as a trusted source for robust research.
To celebrate this achievement, we are reflecting on key achievements and highlighting some of the most influential research that the journal has published. Join us in commemorating 60 years of academic excellence, and here's to many more years of impactful publishing!
Read the editorial from Editor-in-Chief, Huw Dorkins: JMG at 60.
Discover the Six at Sixty collection, a series of commentaries by the authors of some of our most widely read articles, reflecting on the work they reported and subsequent developments in that area.
Authors
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 Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
Most Read Articles
Genotype-phenotype correlations:
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome21 February 2024
Clinical guidelines:
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement21 May 2024
Latest Articles
Cancer genetics:
Classification of PTEN germline non-truncating variants: a new approach to interpretation25 November 2024
Cancer genetics:
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study25 November 2024
Developmental defects:
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression25 November 2024
Methods:
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing25 November 2024
Position statement:
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access25 November 2024
Blog Posts
2 December 2024
12 November 2024
29 October 2024