Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...

Ms F Zahir, Medical Genetics Research Unit, University of British Columbia, Box 153, Children’s and Women’s Hospital, 4500 Oak Street, Vancouver, BC, Canada, V6H 3N1; farahz{at}interchange.ubc.ca The ...

Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...

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 ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

1 Department of Laboratory Medicine and Pathobiology, St Michael’s Hospital Toronto, Canada 2 Cancer Research Program, The Hospital for Sick Children, Department of Immunology and Heart & Stroke ...

Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...

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 ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

1 Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK 2 Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, UK 3 ...

Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in ...