Aims and Scope of Journal of Medical Genetics
The Journal of Medical Genetics is a leading international peer-reviewed medical 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. It was established in September 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Less
Key Metrics
CiteScore 

10.1
Eigenfactor 

0.01 - 0.05
H-Index 

185
Impact Factor 

< 5
SJR 

Q1Genetics

SNIP 

1.73
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Topics Covered on Journal of Medical Genetics
Journal of Medical Genetics Journal Specifications
Indexed in the following public directories
Web of Science
Scopus
SJR
| Overview | |
| Publisher | BMJ PUBLISHING GROUP |
| Language | English |
| Frequency | Monthly |
| General Details | |
| Language | English |
| Frequency | Monthly |
| Publication Start Year | 1964 |
| Publisher URL | Visit website |
| Website URL | Visit website |
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Recently Published Papers in Journal of Medical Genetics
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes.
- 17 May 2026
- Journal of medical genetics
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
- 14 May 2026
- Journal of medical genetics
Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction.
- 5 May 2026
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Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.
- 29 Apr 2026
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Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing.
- 29 Apr 2026
- Journal of medical genetics
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.
- 29 Apr 2026
- Journal of medical genetics
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes.
- 17 May 2026
- Journal of medical genetics
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
- 14 May 2026
- Journal of medical genetics
Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction.
- 5 May 2026
- Journal of medical genetics
Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.
- 29 Apr 2026
- Journal of medical genetics
Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing.
- 29 Apr 2026
- Journal of medical genetics
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.
- 29 Apr 2026
- Journal of medical genetics
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