Journal of Medical Genetics (JMG) is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...

3 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands 4 Centre for Rare Diseases and Personalised Medicine and School of Clinical and Experimental Medicine, College of ...

Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...

1 Department of Neurology, Guy’s and St Thomas’ Hospitals, London, UK 2 Department of Medical Genetics, St Mary’s Hospital, Manchester, UK 3 Department of Neurosurgery, Kings College Hospital, London, ...

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...

Background Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and ...

Departments of Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon, USA A Gregory, Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson ...

Correspondence to Dr William D Foulkes, Department of Medical Genetics, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Cote St. Catherine Road, Montreal, Québec, Canada H3T ...

Department of Laboratory Medicine, University of Minnesota, Minneapolis, Minnesota, USA Correspondence to Dr M Huizing, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, MSC 1851, Building 10, ...

Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. In the UK ...

Correspondence to Dr Alexander Gheldof, Center of Medical Genetics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium; alexander.gheldof{at}uzbrussel.be During reproductive age, approximately ...