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Journal of Medical Genetics is a leading international peer-reviewed 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.

Authors can choose to have their article published Open Access for a fee of £1,950 (plus applicable VAT). Authors can also choose to publish their article in colour for the print edition for a fee of £250.

Submission to Journal of Medical Genetics implies that the work described has not been accepted for publication elsewhere, that it is not under consideration for publication elsewhere and does not duplicate material already published.

Submission guidelines

For guidelines on submission and editorial policies for Journal of Medical Genetics please refer to the BMJ Author Hub. Here you will find information on planning your research through to submitting and promoting your research.

Article types

Please review the below specifications of each article type and the required article lengths, illustrations and table limits, and references counts. The word count excludes the title page, abstract, tables, acknowledgements and contributions, and references. Manuscripts should be as succinct as possible.

For human genes, use genetic notation and symbols approved by the HUGO Gene Nomenclature Committee (HGNC). Approved gene symbols may be obtained prior to submission.  For mutation nomeclature please use the nomenclature guidelines suggested by the Human Genome Variation Society (

Original research
Short report

Original research

Original research represents a substantial body of laboratory or clinical work.

Word count: up to 4,000: ‘Introduction’, ‘Methods’, ‘Results’, ‘Discussion’
Abstract: up to 250: ‘Background’, ‘Methods’, ‘Results’, ‘Conclusion’
Tables/illustrations: up to 6
References: up to 50

Short report

Short reports are brief articles presenting laboratory or clinical work, collected case reports, or single case reports of clinical or scientific significance. Reports of single mutations at loci which have already been documented will be published only if they are of unusual clinical or biological interest.

Word count: up to 2,000
Summary: up to 200
Tables/Illustrations: up to 2
References: up to 20


Authors are welcome to discuss possible topics for review directly with the Editor.

Word count: up to 5,000
Summary: up to 250
Tables/Illustrations: up to 5
References: up to 100


Communication articles include a brief descriptions of significant clinical or laboratory findings. Communications should begin with a referenced paragraph (limit: 100 words) in lieu of an abstract, stating the purpose of the study and the main results without methodological details. Subheadings should not be used.

Word count: up to 1,000
Tables/Illustrations: up to 2
References: up to 10


eLetters are electronic responses to published Journal of Medical Genetics articles posted online. To submit an eLetter use the submit a response option in the content box menu seen in all abstract/extract, Full text and PDF views of a published article. All eLetters are subject to editorial approval.

Word count: up to 300
References: up to 5


Journal of Medical Genetics is willing to consider publishing supplements to regular issues. For more information on supplement proposal please see the BMJ Author Hub.