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Instructions for Authors

For guidelines on policy and submission across our journals, please click on the links below:
Manuscript preparation
Editorial policies
Patient consent forms
Licence forms
Peer review
Submission and production processes

Editorial policy

The Journal of Medical Genetics publishes original research and reviews relevant to medical genetics. The journal particularly encourages submissions on the molecular basis of human disease, human cancer germline genetics, the clinical manifestations of genetic disorders, applications of molecular genetics to medical practice, and the systematic evaluation of such applications.

The journal attempts to handle the review process and publication as expeditiously as possible. An increasing number of submissions are declined without external review, usually within days. In such cases, we make an effort to concisely provide the reasons, if not self-evident. The external review process is usually completed within 4 weeks (mean 20 days), but can take longer in some instances. Accelerated publication is available where warranted by scientific urgency and importance. Submissions are accepted only on the understanding that they have not been and will not be published elsewhere, and are subject to editorial revision.

Open Access

Authors can choose to have their article published Open Access for a fee of £1,950 (plus applicable VAT).

Colour figure charges

During submission you will be asked whether or not you agree to pay for the colour print publication of your colour images. This service is available to any author publishing within this journal for a fee of £250 per article. Authors can elect to publish online in colour and black and white in print, in which case the appropriate selection should be made upon submission.

Article types and word counts

The word count excludes the title page, abstract, tables, acknowledgements and contributions and the references. If you are not a native English speaker there is a professional editing service available.

Original papers

Represent a substantial body of laboratory or clinical work. In general, original paper should not exceed 4000 words plus references.. Additional data may be presented as supplementary information, which will be published online only should the article be accepted (this can be in any format: text, tables, images, videos, etc.). Original papers should be presented in sections - namely:

  1. The Abstract should be concise and informative at 250 words or less and structured in sections in the format used by e.g. the British Medical Journal and the Journal of the American Medical Association: Background (summary of the problem being considered and hypothesis to be tested), Methods, Results and Conclusions. The purpose of the study should be made clear in the Background section.
  2. Key words
    A maximum of 5 which should be given beneath the abstract.
  3. Introduction
    Description of the background that led to the study. Enunciation of hypothesis to be tested. Relevant previous literature should be cited here.
  4. Methods
    Details relevant to the conduct of the study. Statistical methods should be clearly explained at the end of this section.
  5. Results
    Work should be reported in SI units. Undue repetition in text and tables should be avoided. Comment on validity and significance of results is appropriate but broader discussion of their implications should be placed in the next section.
  6. Discussion
    The nature and findings of the study are placed in context of other relevant, published data. Subheadings that aid clarity of presentation are encouraged.
  7. Acknowledgments and affiliations
    Reference should be made to availability of detailed data, either through public databases or otherwise, and to availability of materials used for reported investigations. It is generally expected that genomic and similar data should be lodged in appropriate public databases at or before the time of publication. Authors are encouraged to make DNA or cell lines available to other workers. Mutation information: it is recommended that all mutations in any gene be deposited in existing public databases.
  8. References
    In accordance with the Vancouver agreement these are cited by the numerical system and listed in the order cited in the text, not in alphabetical order by authors' names (In the text, the reference number should be given between square brackets on the line, not superscript.) All authors should be listed. Journal titles are abbreviated in accordance with the style of Index Medicus e.g Tomlinson IP, Beck NE, Homfray T, Harocopos CJ, Bodmer WF. Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 1997;34:39-42.
  9. Nomenclature
    Genes: 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 from:
    HUGO Nomenclature Committee (HGNC)
    HUGO Gene Nomenclature Committee (HGNC)
    European Bioinformatics Institute (EMBL-EBI)
    Wellcome Trust Genome Campus
    Hinxton, Cambridgeshire
    CB10 1SA, UK
    fax: +44 (0)1223 494 468
    For mutation nomeclature please use the nomenclature guidelines suggested by the Human Genome Variation Society (
  10. Figure legends
    View further details on illustrations and tables.

Word count: up to 4000 words.
Abstract: should not exceed 250 words.
Tables/Illustrations: up to six.
References: up to 50.

Short reports

A brief communication 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. The format can be identical to Original papers (see above) but in some circumstances the main body of the text may be better presented without division into sections. Brevity and clarity are always likely to enhance the chance of a manuscript being accepted for publication.

Word count: 2000 words.
Summary: should not exceed 200 words.
Tables/Illustrations: up to 2
References: up to 20.

Review articles

Authors are welcome to discuss possible topics for review directly with the Editor. Submissions of review articles of the type that were published previously in the "Syndrome of the month" format are welcome.

Word count: between 2000 and 5000 words.
Summary: should not exceed 250 words.
Tables/Illustrations: up to 5 tables and 3 illustrations.
References: up to 100.


This section includes brief descriptions of significant clinical or laboratory findings. Communcations should not exceed 1,000 words plus references and, in lieu of an Abstract, should begin with a referenced paragraph (limit: 100 words) stating the purpose of the study and the main results without methodological details. Subheadings are not allowed.

Word count: up to 1000 words.
Tables/Illustrations: up to 2.
References: up to 10.


Letters in response to articles published in the Journal of Medical Genetics are welcome and should be submitted electronically via the website. Contributors should go to the abstract or full text of the article in question. At the top right corner of each article is a "contents box". Click on the "eLetters: Submit a response to this article" link. Some letters in response to an article may be published in the print version of the journal.

Letters relating to or responding to previously published items in the journal will be published on-line only, without editorial evaluation and only screened for offensive language, subject confidentiality and copyright infringement. They will be shown to the authors of the paper being commented on, who will be invited to respond.


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

  1. 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.
  2. 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.
  3. The BMJ itself may have proposals for supplements where sponsorship may be necessary.
  4. 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.

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


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

Plagiarism detection

BMJ is a member of CrossCheck by CrossRef and iThenticate. iThenticate is a plagiarism screening service that verifies the originality of content submitted before publication. iThenticate checks submissions against millions of published research papers, and billions of web content. Authors, researchers and freelancers can also use iThenticate to screen their work before submission by visiting

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