jmg.bmj.comHomepage | Journal of Medical Genetics

Validation period: 5/13/2024, 11:35:01 PM - 5/14/2024, 5:35:01 AM Subscribe Login Search Advanced search Latest content Current issue Archive For authors About Email alerts Journal of Medical Genetics is a leading human genetics journal publishing global authoritative research and reviews Impact Factor: 4 Citescore: 9.6 All metricsJournal 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 is a Plan S compliant Transformative Journal . Current Issue Authors The Journal of Medical Genetics accepts submissions of a wide range of article types, including original research, review and short reports. The Author Information section provides specific article requirements to help you turn your research into an article suitable for JMG. Information is also provided on editorial policies and open access . Author information Submit a paper Journal of Medical Genetics Learning In collaboration with BMJ Learning, Journal of Medical Genetics offers high-quality continuing medical education for doctors and other healthcare professionals. All Journal of Medical Genetics Multiple Choice Questions are listed on BMJ Learning. You can also find a list of our modules by title on our learning hubOur latest module is ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes Most Read Articles Review : Variant reclassification and clinical implications 21 February 2024 Genotype-phenotype correlations : Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome 21 February 2024 Cancer genetics : Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer 19 January 2024 Latest Articles Genotype-phenotype correlations : Mosaic RASopathies concept: different skin lesions, same systemic manifestations? 19 April 2024 Genotype-phenotype correlations : Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants 19 April 2024 Genotype-phenotype correlations : Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers 19 April 2024 Genotype-phenotype correlations : Breast cancer risk in NF1-deleted patients 19 April 2024 Neurogenetics : Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review 19 April 2024 Blog Posts An expanded targeted preconception screening panel in Israel – findings and insights 8 May 2024 Uncategorized Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression 8 May 2024 Uncategorized Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein 27 April 2024 Uncategorized Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism 15 April 2024 Uncategorized Pathogenic variant detection rate varies considerably in Male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 12 April 2024 Uncategorized Altmetrics Evidence of a genetic background predisposing to complex regional pain syndrome type 1 10 October 2023 Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome 28 March 2024 Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts 16 December 2021 Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers 30 December 2023 Iron and risk of dementia: Mendelian randomisation analysis in UK Biobank 8 January 2024 Related Journals Journal of Clinical Pathology Current issue Visit this journal Lupus Science & Medicine Current issue Visit this journal CONTENT Latest content Current issue Archive Browse by collection Top cited articles Most read articles Responses JOURNAL About Editorial board Sign up for email alerts Thank you to our reviewers Subscribe AUTHORS Instructions for authors Submit an article Editorial policies Open access at BMJ BMJ Author Hub HELP Contact us Reprints Permissions Advertising Feedback form Website Terms & Conditions Privacy & Cookies Contact BMJ Cookie settings Online ISSN: 1468-6244 Print ISSN: 0022-2593 Copyright © 2024 BMJ Publishing Group Ltd. All rights...