Journal of Medical Genetics
is a leading human genetics journal publishing global authoritative research and reviews
Impact Factor: 4
Citescore: 9.6
All metrics >>
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 >>
Most Read Articles
Cancer genetics:
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA21 November 2022
Genotype-phenotype correlations:
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method26 September 2022
Latest Articles
Copy-number variation:
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples21 September 2023
Genotype-phenotype correlations:
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation21 September 2023
Genotype-phenotype correlations:
Genotype and sleep independently predict mental health in Rett syndrome: an observational study21 September 2023
Genotype-phenotype correlations:
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning21 September 2023
Genotype-phenotype correlations:
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant21 September 2023
Blog Posts
13 September 2023
2 September 2023
Open Access Articles
Diagnostics:
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases21 September 2023
Neurogenetics:
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy21 September 2023
Genotype-phenotype correlations:
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant16 May 2023
Developmental defects:
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension20 April 2023
Altmetrics
Related Journals
Recent Articles
Diagnostics:
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases21 September 2023
Neurogenetics:
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy21 September 2023
Genotype-phenotype correlations:
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant16 May 2023
Developmental defects:
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension20 April 2023