Instructions for Authors

For guidelines on BMJ Journals policy and submission please click on links below.
Manuscript Formatting
Editorial policies
Patient consent forms
Licence forms
Peer Review Process
Online First process

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 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. The 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 Submissions are accepted only on the understanding that they have not been and will not be published elsewhere, and are subject to editorial revision.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/Unlocked articles

Authors are able to make their articles freely available online, immediately on publication, for a fee, using the Unlocked service. This service is available to any author publishing original research in a BMJ Journal for a fee of £1,200(+VAT)/€1,775(+VAT)/$2,220.

Article types and word counts

• Original papers
• Short Reports
• Review articles
• Letters to the Editor (original research)
• Online mutation reports (OMR)
• Supplements

The word count excludes the title page, abstract, tables, acknowledgements and contributions and the references.

Original papers

Represent a substantial body of laboratory or clinical work. In general, original paper should not usually 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. Abstract
   Should be concise and informative and in 200-250 words, summarise the problem being considered in the study, how the study was performed, the salient results and the principal conclusions of the study. Structured abstracts (in the format used by e.g. the British Medical Journal and the Journal of the American Medical Association) have been shown to be more useful to readers, and their use is required whenever possible.
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.
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 (http://www.hgvs.org/mutnomen/)
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.

Letters to the Editor (original research)

This section includes brief descriptions of significant clinical or laboratory findings. Letters to the Editor should not usually exceed 4000 words plus references and structured abstracts are required. Authors are encouraged to divide the letter into subheadings (e.g. methods, results etc.) as appropriate and 3 short bullet points outlining the key points of the paper are required.

Word count: up to 4000 words.
Abstract: should not exceed 250 words.
Tables/Illustrations: up to 6
References: up to 30.

Mutation reports (OMR)

MRs provide an opportunity to publish interesting human gene mutations in a concise format. Human gene mutations may be interesting because of their nature, their epidemiology, the associated phenotype etc. Some mutation reports may be publ;ished in an on-line only format. Mutation reports should report significant novel mutation data (e.g. missense mutations that might provide insights into critical protein domains, founder mutations, mutations associated with an unusual phenotype etc). Known mutations can only be included if important additional information is given (e.g. functional analysis of the mutant protein). The number of mutations reported will depend on the significance of the mutations described and the number of mutations reported previously. However if more than 20 mutations are known it is expected that MRs will contain at least 5 new mutations.

Tables summarizing previously reported mutations are encouraged. Include Genbank numbers for reference sequences.

Mutation information: it is recommended that all mutations in any gene be deposited in existing public databases.

Correspondence

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 shown to those authors, where appropriate.

Supplements

The BMJ Publishing Group 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 BMJPG 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.

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