Journal of Medical Genetics : Impact Factor & More
eISSN: 1468-6244pISSN: 0022-2593
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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
Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction.
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Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing.
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Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.
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VHL gene fragment analysis: large inversion detection in Alu region for clinical applications.
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Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort.
- 22 Apr 2026
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Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction.
- 5 May 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
Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection.
- 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
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications.
- 24 Apr 2026
- Journal of medical genetics
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort.
- 22 Apr 2026
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