2 days ago · 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 ...

We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North American editor of the Journal of Medical Genetics ( JMG ). In this issue, readers will find an obituary written by former coeditors and colleagues.1 In addition, the second invited commentary in our Six at Sixty series2 focuses on a paper coauthored by Charis Eng and published ...

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 …

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.

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes ( CREBBP , EP300 ) which encode for the proteins CBP …

September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing. Over the past 6 decades, we have established ourselves as a trusted source for robust research on areas that cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of …

Jan 26, 2025 · Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and PIK3CA -related overgrowth spectrum (PROS). However, it can also present as isolated (ILO). Defining the aetiology of LO is ...

Germline genetic testing for pathogenic variants (PVs) in breast cancer (BC) genes is currently triggered by algorithms that assess the likelihood of PVs in specific patient populations.1 Testing in patients with BC in England was updated in April 2022, making it more widely available, including all women diagnosed <40 years, except those with grade 1 disease.2 However, this exception was ...

Background The application of massive parallel sequencing technologies in the molecular analysis of Charcot-Marie-Tooth (CMT) has enabled the rapid and cost-effective identification of numerous potentially significant variants for diagnostic purposes. The objective is to reduce the number of variants, focusing only on those with pathogenic significance. The 2015 American College of Medical ...

Sep 26, 2024 · Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data