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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 general guidelines on submission and editorial policies for all BMJ Journals please refer to the BMJ Author Hub. Here you will find information on planning your research through to submitting and promoting your research.

Patient consent and confidentiality

Journal of Medical Genetics patient consent and confidentiality policy is based on the UK’s data protection law and the English common law of confidentiality. UK authors should be aware that the General Medical Council has extensive guidance on patient consent and confidentiality and that our policy is in line with GMC advice.

Any article that contains personal medical information about an identifiable living individual requires the patient’s explicit consent before we can publish it. We will need the patient to sign our consent form, which requires the patient to have read the article. If the patient has not seen a final version of the manuscript to be submitted to BMJ, the form must be amended to make clear what the patient has seen and that they have agreed to publication without having seen the final version of the manuscript. The consent form is available in multiple languages and the author must ensure that the form is in a language that the patient unde

Our policy on obtaining consent for publication of pictures or videos of patients is a subset of our general policy on patient confidentiality. If there is any chance that a patient may be identified from a photograph or other static or moving image, or from its legend or accompanying text, we need the patient’s written consent to publication by BMJ.

For more information on our patient consent and confidentiality policies and to download a form please refer to the BMJ Author Hub.

Text specifications

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 (

MIM numbers should be listed in the text, but not in the abstract, after the first mention of all disorders and genes, but not proteins. Example: adrenal hypoplasia congenita (AHC [MIM: 300200]). In the Web Resources section, only the URL for the OMIM database, but not any individual MIM numbers, should be noted. Our preferred website listing is as follows: OMIM,

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.

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.