Journal of Medical Genetics
is a leading human genetics journal publishing global authoritative research and reviews
Impact Factor: 5.945
Citescore: 10.1
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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 Detection of cryptic balanced chromosomal rearrangements using high- Banked resolution optical genome mapping
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
Cancer genetics:
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation21 August 2023
Cancer genetics:
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort21 August 2023
Therapeutics:
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study21 August 2023
Genotype-phenotype correlations:
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations21 August 2023
Blog Posts
2 September 2023
2 September 2023
Open Access Articles
Genotype-phenotype correlations:
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis15 June 2023
Cancer genetics:
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort5 April 2023
Diagnostics:
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations27 January 2023
Neurogenetics:
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM222 February 2023
Neurogenetics:
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome14 February 2023
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Recent Articles
Genotype-phenotype correlations:
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis15 June 2023
Cancer genetics:
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort5 April 2023
Diagnostics:
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations27 January 2023
Neurogenetics:
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM222 February 2023
Neurogenetics:
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome14 February 2023