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.
Journal of Medical Genetics adheres to the highest standards concerning its editorial policies on publication ethics, scientific misconduct, consent and peer review criteria. The journal follows guidance produced by bodies that include the Committee on Publication Ethics (COPE), the World Association of Medical Editors (WAME) and the International Committee of Medical Journal Editors (ICMJE).To view all BMJ Journal policies please refer to the BMJ Author Hub policies page.
We take seriously all possible misconduct. If an Editor, author or reader has concerns that a submitted article describes something that might be considered to constitute misconduct in research, publication or professional behaviour they should forward their concerns to the journal. The publisher will deal with allegations appropriately.
Articles are published under an exclusive licence or non-exclusive licence for UK Crown employees or where BMJ has agreed CC BY applies. For US Federal Government officers or employees acting as part of their official duties, the terms are as stated in accordance with our licence terms. Authors or their employers retain copyright. Open access articles can be reused under the terms of the relevant Creative Commons licence to facilitate reuse of the content; please refer to the Journal of Medical Genetics Author Licence for the applicable Creative Commons licences. More information on copyright and authors’ rights.
As the author you may wish to post your article in a PrePrint service, institutional or subject repository or a scientific social sharing network. For more information on author self archiving and rights to reuse content – which are dependent on the licence you have obtained – please refer to the BMJ author self archiving and permissions policies page.
Articles submitted to Journal of Medical Genetics are subject to peer review. The journal operates single blind peer review whereby the names of the reviewers are hidden from the author; this is the traditional method of reviewing and is the most common. When a paper has been submitted from the Editor or Associate Editors’ departments, they have no role in the reviewing or decision making process. For more information on what to expect during the peer review process please refer to BMJ Author Hub – the peer review process.
BMJ requests that all reviewers adhere to a set of basic principles and standards during the peer-review process in research publication; these are based on the COPE Ethical Guidelines for Peer Reviewers. Please refer to our peer review terms and conditions policy page.
BMJ is committed to transparency. Every article we publish includes a description of its provenance (commissioned or not commissioned) and whether it was internally or externally peer reviewed.
Plagiarism is the appropriation of the language, ideas or thoughts of another without crediting their true source and representation of them as one’s own original work. 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. BMJ runs manuscripts through iThenticate during the peer review process. Authors, researchers and freelancers can also use iThenticate to screen their work before submission by visiting www.ithenticate.com.
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.
Journal of Medical Genetics adheres to BMJ’s Tier 2 data policy. We strongly encourage that data generated by your research that supports your article be made available as soon as possible, wherever legally and ethically possible. We also require data from clinical trials to be made available upon reasonable request. To adhere to ICMJE guidelines, we require that a data sharing plan must be included with trial registration for clinical trials that begin enrolling participants on or after 1st January 2019.
Changes to the plan must be noted in the Data Availability Statement and updated in the registry record. All research articles must contain a Data Availability Statement. For more information and FAQs, please see BMJ’s full Data Sharing Policy page.
Journal of Medical Genetics mandates ORCID iDs for the submitting author at the time of article submission; co-authors and reviewers are strongly encouraged to also connect their ScholarOne accounts to ORCID. We strongly believe that the increased use and integration of ORCID iDs will be beneficial for the whole research community.
Please find more information about ORCID and BMJ’s policy on our Author Hub.
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 processing charges
During submission, authors can choose to have their article published open access for 2,300 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 350 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.
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. You may also wish to use the language editing and translation services provided by BMJ Author Services.
If your article is accepted you can take advantage of BMJ’s partnership with Kudos, a free service to help you maximise your article’s reach.
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 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
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