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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.

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.

Language Polishing Service

If you are not a native English speaker, we recommend that you have your manuscript edited by a native speaker prior to submission. Professional editing will improve the grammar, spelling and punctuation of your manuscript, providing clear language which will mean that reviewers and editors are better able to concentrate on the scientific content of the paper. Click here for more information.

Article Types and Word Counts

The word count excludes the title page, abstract, tables, acknowledgements and contributions and the references. For guidance on how to improve your graphs and tables please view these BMJ demonstration videos.

Information on our publication turnaround times and acceptance rates can be found here.

Original papers

Represent a substantial body of laboratory or clinical work. 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.).

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

Original papers should be presented in the following sections:

  1. 1. The Abstract - Concise, informative and structured in sections in the format used by e.g. The BMJ and the Journal of the American Medical Association; 
  2. Background
  3. Methods
  4. Results
  5. Conclusions
  1. 2. Key words - A maximum of 5 which should be given beneath the abstract.
  2. 3. Introduction - Description of the background that led to the study. Enunciation of hypothesis to be tested. Relevant previous literature should be cited here.
  3. 4. Methods - Details relevant to the conduct of the study. Statistical methods should be clearly explained at the end of this section.
  4. 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.
  5. 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.
  6. 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.
  7. Mutation information: it is recommended that all mutations in any gene be deposited in existing public databases.
  8. 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. 9. Figure legends - View further details on illustrations and tables.
  10. 10. 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:
  1. 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 (

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.

  1. Word count: 2000 words
  2. Summary: should not exceed 200 words
  3. Tables/Illustrations: up to 2
  4. 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.

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


This section includes brief descriptions of significant clinical or laboratory findings. Communcations 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 are not allowed.

  1. Word count: up to 1000 words
  2. Tables/Illustrations: up to 2
  3. 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 online 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. 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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