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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.


Editorial policy

Journal of Medical Genetics adheres to the highest standards concerning its editorial policies on publication ethics, scientific misconduct, consent and peer review criteria. To view all BMJ Journal policies please refer to the BMJ Author Hub policies page.

Articles are published under an exclusive licence (or non-exclusive licence for UK Crown and US Federal Government employees) and authors retain copyright. Articles can also be published under a Creative Commons licence to facilitate reuse of the content; please refer to the Journal of Medical Genetics Copyright Author Licence Statement.

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 understands.

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 policies page.

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 (http://www.hgvs.org/mutnomen/)

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, http://www.omim.org/.

Article publishing charges

During submission, authors can choose to have their article published open access for 1,950 GBP (exclusive of VAT for UK and EU authors). Authors can also choose to publish their article in colour for the print edition – instead of the default option of black and white – for 250 GBP. There are no submission, page or online-only colour figure charges.

For more information on open access, funder compliance and institutional programmes please refer to the BMJ Author Hub open access page.


Submission guidelines

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

For further support when making your submission please refer to the resources available on the BMJ Author Hub. Here you will find information on writing and formatting your research through to the peer review process and promoting your paper.

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

Review

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

Communications

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

eLetter

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

Supplements

The BMJ Publishing Group journals are willing to consider publishing supplements to regular issues. Supplement proposals may be made at the request of:

  • The journal editor, an editorial board member or a learned society may wish to organise a meeting, sponsorship may be sought and the proceedings published as a supplement.
  • The journal editor, editorial board member or learned society may wish to commission a supplement on a particular theme or topic. Again, sponsorship may be sought.
  • The BMJPG itself may have proposals for supplements where sponsorship may be necessary.
  • A sponsoring organisation, often a pharmaceutical company or a charitable foundation, that wishes to arrange a meeting, the proceedings of which will be published as a supplement.

In all cases, it is vital that the journal’s integrity, independence and academic reputation is not compromised in any way.

For further information on criteria that must be fulfilled, download the supplements guidelines.

When contacting us regarding a potential supplement, please include as much of the information below as possible.

  • Journal in which you would like the supplement published
  • Title of supplement and/or meeting on which it is based
  • Date of meeting on which it is based
  • Proposed table of contents with provisional article titles and proposed authors
  • An indication of whether authors have agreed to participate
  • Sponsor information including any relevant deadlines
  • An indication of the expected length of each paper Guest Editor proposals if appropriate