jmg.bmj.comJournal of Medical Genetics | JMG is a leading international peer-reviewed journal covering original

This site uses cookies. More info By continuing to browse the site you are agreeing to our use of cookies. Find out more here. Subscribe Log In Advanced search Search Latest content Current issue Archive Authors About Email alerts Intro Widget 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. Impact Factor 5.899 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 Latest Articles Cancer genetics: Cancer patients’ views and understanding of genome sequencing: a qualitative study 24 January, 2020 Ethics and policy: Impacts of genomics on the health and social costs of intellectual disability 24 January, 2020 Genotype-phenotype correlations: Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine 24 January, 2020 Neurogenetics: Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations 14 January, 2020 Most Read Articles Diagnostics: CCMG practice guideline: laboratory guidelines for next-generation sequencing 12 July, 2019 Diagnostics: Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases 25 April, 2019 Copy-number variation: Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status 23 September, 2019 Methods: Impact of DNA source on genetic variant detection from human whole-genome sequencing data 12 September, 2019 Therapeutics: Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy 24 October, 2019 Editor’s Choice Copy-number variation: Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status 23 September, 2019 Cancer genetics: Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria 11 July, 2019 Diagnostics: Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era 30 April, 2019 Diagnostics: Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy 22 April, 2019 Cancer genetics: Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report 8 April, 2019 Related Journals Journal of Clinical Pathology Current issue Visit this journal Lupus Science & Medicine Current issue Visit this journal BMJ Open Science Visit this journal Content Latest content Current issue Archive Browse by topic 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 Online ISSN: 1468-6244 Print ISSN: 0022-2593 Copyright © 2020 BMJ Publishing Group Ltd. All rights reserved. 京ICP备15042040号-3...