JO

Journal of Medical Genetics

Journal of Medical Genetics is a leading international peer-reviewed journal publishing authoritative research and reviews in human genetics, including the molecular basis of human disease, germline cancer genetics, clinical manifestations of genetic disorders, and applications of molecular genetics to medical practice. It is the official journal of the British Society for Genetic Medicine.

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Subject Genetics & Heredity
Impact Factor 3.7
Quartile Q2
Open Access Type Hybrid
ISSN 0022-2593
eISSN 1468-6244
Invitation Only No
Cost Range Article Processing Charge (APC) may be fully covered or discounted through institutional open access agreements for eligible authors.

Submission Instructions

Journal of Medical Genetics accepts the following article types. Click on an article type to view submission instructions.

Original Research

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. Abstract must be up to 250 words. The abstract must be structured. The abstract must use the headings Background, Methods, Results, and Conclusion.
Manuscript The manuscript must be up to 4,000 words, excluding the title page, abstract, tables, acknowledgements, contributions, and references. The manuscript must use the sections Introduction, Methods, Results, and Discussion. A key messages section must appear after the abstract and include the headings What is already known on this topic, What this study adds, and How this study might affect research, practice or policy.
References The manuscript may include up to 50 references. Vancouver style. References must be cited in numerical order, listed with author names, article title, and DOI or PubMed ID, and the first three authors should be listed by last name and initials with additional authors represented by et al.
Figures & Tables The manuscript may include up to 6 tables or illustrations. Tables should be placed in the main text where first cited, and figures must be uploaded as separate files. Tables should be self-explanatory, figures and tables must be cited in numerical order, and online supplementary materials should be uploaded as a file designated Supplementary File.
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Systematic Review

Cover Letter The submitting author must be authorised to enter into the agreement on behalf of all authors, including to grant all rights and adhere to all obligations.
Abstract An abstract is required.
Manuscript The manuscript should be presented in the order abstract, main text under appropriate headings and subheadings, tables, acknowledgments/competing interests/funding and other required statements, and references. The title must include the research type, keywords should use MeSH descriptors, and acknowledgments, competing interests, funding, and other required statements must be included.
References Vancouver style. All references should be cited in the main text in numerical order, with citations in square brackets or superscripts, and the reference list should include author names, article title, and DOI or PubMed ID.
Figures & Tables Tables should be placed in the main text where first cited, figures must be uploaded as separate files, and online supplementary materials should be uploaded as a file designated Supplementary File. Tables should be in Word format and self-explanatory, all figures and tables must be cited in numerical order, and figures and tables should not duplicate data already in the text.
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Review

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. The abstract must be up to 250 words.
Manuscript The review article must be up to 5,000 words. The manuscript should be presented in the order abstract, main text under appropriate headings and subheadings, tables, acknowledgments/competing interests/funding and other required statements, and references. Keywords should use MeSH descriptors, and acknowledgments, competing interests, funding, and other required statements must be included.
References The review article may include up to 100 references. Vancouver style. References must be cited in numerical order, with in-text citations in square brackets or superscripts, and the first three authors listed followed by et al if applicable.
Figures & Tables The review article may include up to 5 tables or illustrations. Tables should be placed in the main text where first cited, and figures must be uploaded as separate files. Tables should be self-explanatory, all figures and tables must be cited in numerical order, and all figures should be uploaded in the highest resolution possible.
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Short Report

Cover Letter Cover Letter requirements are not specified.
Abstract A summary is required. The summary must be up to 200 words.
Manuscript Short Reports must be up to 2,000 words. The manuscript should be presented in the order abstract, main text under appropriate headings and subheadings, tables, acknowledgments/competing interests/funding and other required statements, and references. Acknowledgments, competing interests, funding, and other required statements must be included in the manuscript.
References Short Reports may include up to 20 references. Vancouver style. References should be cited in numerical order, with the first three authors listed by last name and initials and additional authors represented by et al.
Figures & Tables Short Reports may include up to 2 tables/illustrations. Tables should be placed in the main text where first cited, and figures must be uploaded as separate files. Tables should be in Word format, figures should be cited in numerical order, and all figures and tables should be self-explanatory and cited in the main text in numerical order.
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Brief Communication

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is not used for Brief Communications.
Manuscript Brief Communications must be up to 1,000 words. Brief Communications must begin with a referenced paragraph and must not use subheadings. A Data Availability Statement is required for all submitted research articles, and acknowledgments, competing interests, funding, and other required statements must be included.
References Brief Communications may include up to 10 references. Vancouver References must be cited in numerical order, with the first three authors listed by last name and initials and additional authors shortened to et al if applicable.
Figures & Tables Brief Communications may include up to 2 tables or illustrations. Tables should be placed in the main text where first cited, and figures should be uploaded as separate files. Tables should be in Word format and figures should be cited in numerical order.
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Recent Publications

Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review

Solène Doppler, Benjamin Durand, Corentin Schwarz, Marie-Thérèse Abi Warde, Pascale Saugier-Veber, Francois Lecoquierre, Roseline Froissart, Audrey Schalk, Sophie Scheidecker, Sarah Baer

10.1136/jmg-2026-111582
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Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practice

Terri Patricia McVeigh, Helen Hanson, Katie Snape, Clare Turnbull, George J Burghel

10.1136/jmg-2026-111648
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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome

Jhih-Rong Lin, Daniella Miller, Dana Luong, Tanner Nelson, T B Crowley, Oanh T Tran, Bhooma Thiruvahindrapuram, Amirhossein Hajianpour, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Sixto García-Miñaúr, Luis Fernández, Kieran C Murphy, Declan G Murphy, Wanda Hawula, Kathleen Angkustsiri, Vandana Shashi, Kelly Schoch, Carrie E Bearden, Aoy Tomita-Mitchell, Michael Mitchell, Miri Carmel, Abraham Weizman, Elena Michaelovsky, Doron Gothelf, Marianne van den Bree, Michael Owen, Jacob Vorstman, Erik Boot, Claudia Vingerhoets, Therese Van Amelsvoort, Ann Swillen, Jeroen Breckpot, Joris R Vermeesch, Koenraad Devriendt, Maude Schneider, Stephan Eliez, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Paolo Versacci, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Gabriela M Repetto, Wendy Kates, Robert J Shprintzen, Raquel E Gur, Elaine Zackai, Elizabeth Goldmuntz, Tao Wang, Srilakshmi Raj, Beverly S Emanuel, Donna M McDonald-McGinn, Stephen W Scherer, Anne S Bassett, Zhengdong D Zhang, Bernice E Morrow

10.1136/jmg-2026-111761
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UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Terri Patricia McVeigh, Ruth Armstrong, John Burn, Richard Gallon, Helen Hanson, Fiona Lalloo, Andrew Latchford, Katie Snape, Nick West, Kevin J Monahan

10.1136/jmg-2026-111623
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Recurrent helical COL1A1 E678K variant in three families with an EDS-predominant phenotype expanding the clinical and molecular spectrum of COL1-related overlap disorder

Shaimaa Helal, Enas Nasr, Rafael Pacheco, Bushra Haque, Constance O’connor, Sarah Schwartz, Nicole Liang, Courtney Ells, Lesley Turner, Anne Ronan, Roberto Mendoza-Londono

10.1136/jmg-2026-111532
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Frequently asked questions

How long does it take to publish?

Time to first decision: 6 days; time to first decision with review: 54 days; time from acceptance to publication: 17 days

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What are the publication costs?

Eligible authors may receive full coverage or a discount on the Article Processing Charge through institutional open access agreements; eligibility depends on institution and agreement status at acceptance.

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Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders BRCA gene mutations in cancer Genetic Syndromes and Imprinting Connective tissue disorders research Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Genetic Neurodegenerative Diseases Mitochondrial Function and Pathology Chromosomal and Genetic Variations Genetic factors in colorectal cancer Neurogenetic and Muscular Disorders Research Congenital heart defects research Congenital limb and hand anomalies Hedgehog Signaling Pathway Studies Metabolism and Genetic Disorders Sexual Differentiation and Disorders RNA modifications and cancer Muscle Physiology and Disorders Epigenetics and DNA Methylation Congenital Anomalies and Fetal Surgery Cystic Fibrosis Research Advances Nutrition, Genetics, and Disease Genetic and Kidney Cyst Diseases

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