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 ...

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 ...

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 ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.

Background Caring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their ...

Correspondence to: Professor Richard C Trembath Division of Medical Genetics, Adrian Building, University of Leicester, University Road, Leicester LE1 7RH, UK; rtrembathgmp.mrc.ac.uk BMPR-II, endoglin ...

Correspondence to Dr Michael J Browning, Department of Immunology, UHL NHS Trust, Leicester Royal Infirmary Square, Leicester LE1 5WW,UK; mjb22{at}le.ac.uk Methods and results Two patients with Cowden ...

2 The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel Correspondence to Professor Ruti Parvari, Department of Microbiology, Immunology and ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Correspondence to Professor Dr HFA Vasen, Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; hfavasen{at}stoet.nl BTs ...