Academic Journal
Q1Journal of Medical Genetics
About Journal of Medical Genetics
Journal of Medical Genetics is a scholarly journal published by BMJ Publishing Group. SCImago 2025 lists it in Q1, with an SJR of 1.688 and H-index of 201.
Coverage: 1964-2026. Research categories: Genetics (Q1); Genetics (clinical) (Q1).
Source-backed journal facts
Topics in published research
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.
OpenAlex classifies topics from published works. These topics are not the publisher’s official aims and scope.
Source: OpenAlex source record. Retrieved 2026-10-03. Source record updated 2026-10-02. OpenAlex metrics are different from SCImago metrics and the Clarivate Journal Impact Factor.
Journal Metrics
Quartile, SJR and the listed SCImago H-index use the 2025 imported SCImago dataset. A quartile may vary by subject category. Values without a source or reporting year are unverified historical entries. Verify the current Journal Impact Factor with Clarivate or the publisher before using it.
Aims & Scope
The publisher’s official aims and scope have not yet been verified for this profile. Use the journal website to check subject fit and accepted article types before submitting.
Recent Research Articles
Latest publications matched automatically by ISSN.
Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers
Miriam J Smith, D Gareth Evans
2026-09-30 · DOI: 10.1136/jmg-2026-111894Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing
Agnes Sebastian, Elaine Suk-Ying Goh, Lianna Kyriakopoulou
2026-09-21 · DOI: 10.1136/jmg-2026-111749Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis
Giovanni Corso, Giovanni Quadrini, Vincenzo Bagnardi, Carlo La Vecchia et al.
2026-09-21 · DOI: 10.1136/jmg-2026-111804Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials
Haya Nassour, Samer A Al_Shbailat, Arwa Sobhi Ibrahim, Amal Mohammad Allan et al.
2026-09-16 · DOI: 10.1136/jmg-2026-111649Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study
Annette Lyngholm Sandsdalen, Anne Marie Jelsig, Birgitte Bertelsen, Zuzana Lohse et al.
2026-09-09 · DOI: 10.1136/jmg-2026-111772Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
Valentina Trevisan, Germana Viscogliosi, Lucrezia Perri, Chiara Ritarossi et al.
2026-09-09 · DOI: 10.1136/jmg-2026-111658Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
Luis R Lopes, Nay Aung, Stefan Van Duijvenboden, Hannah L Nicholls et al.
2026-09-04 · DOI: 10.1136/jmg-2026-111722Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
Zippora Brownstein, Lara Kamal, Yazeed Zoabi, Keren Gesin et al.
2026-09-03 · DOI: 10.1136/jmg-2026-111784Exploring the clinical and mutational spectrum of MORC2 -associated disorders
Aysylu Murtazina, Eugenii Tatarsky, Iuliia Viakhireva, Artem Borovikov et al.
2026-08-28 · DOI: 10.1136/jmg-2025-110787Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics
Noemi Calandra, Elisabetta Mereu, Paola Ogliara, Guido Casalis Cavalchini et al.
2026-10 · DOI: 10.1136/jmg-2026-111675Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population
Aoife Flynn, Rebecca Finnegan, Aisling Stafford, Ivan Keogh et al.
2026-08-25 · DOI: 10.1136/jmg-2026-111607Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes
Robert D Morgan, Emma R Woodward, D Gareth Evans
2026-08-25 · DOI: 10.1136/jmg-2026-111752Childhood-onset neurodegeneration and brain atrophy: defining UBTF -related developmental regression and progressive ataxia
Amanda Nagy, Anna Luddy, Francine Molay, Haley McLaughlin et al.
2026-08-14 · DOI: 10.1136/jmg-2025-111356Evolving roles within the genomic medicine workforce: a revised framework for UK practice—position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society
Roberta Rizzo, Meena Balasubramanian, Diana Baralle, Catriona Corsie et al.
2026-08-12 · DOI: 10.1136/jmg-2025-111340Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population
Rotem Greenberg, Ofer Isakov, Bella Davidov, Morad Khayat et al.
2026-08-12 · DOI: 10.1136/jmg-2026-111670BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities
Carolyn Le, Tugba Kalayci, Zehra Uyguner, Birsen Karaman et al.
2026-08-12 · DOI: 10.1136/jmg-2025-111432Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank
Congcong Chen, Jiawen Zhu, Ziye Xu, Xinyu Gu et al.
2026-08-12 · DOI: 10.1136/jmg-2026-111659Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial
Anurag Saxena, Cheney JG Drew, Rebecca Cannings-John, Timothy Pickles et al.
2026-08-06 · DOI: 10.1136/jmg-2026-111529CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders
Yan-Fang Li, Pei Mo, Lan-Zhen Zhang, Xin-Long Zhou et al.
2026-08-06 · DOI: 10.1136/jmg-2025-110918The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing
Sian Ellard, Helen Hanson, Emma-Jane Cassidy, Kate Thomson et al.
2026-08-06 · DOI: 10.1136/jmg-2026-111522Reviews
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Version History
September 25, 2026 at 7:20 am
September 25, 2026