Correspondence to: Dr S Mansour, South-West Thames Regional Genetic Service, St George’s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, UK; smansour{at}sghms.ac.uk Five patients ...

Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada Correspondence to: Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, ...

4 Centre for MEGA Epidemiology, The University of Melbourne, Victoria, Australia 5 Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia and Queensland Institute of Medical Research, Brisbane, ...

2 Scientific Director, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada Margaret W. Thompson was one of the true pioneers in the development of medical genetics as a discipline. Peggy, as ...

5 Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, USA 6 Department of Communication and Huntsman Cancer Institute, University of Utah Background Moderate-risk genes ...

Correspondence to Dr Hui-Qi Qu, University of Texas Health Science Center at Houston, School of Public Health, Brownsville campus, 80 Fort Brown, SPH Bldg, Brownsville, TX 78520, USA; ...

Background Advances in next generation sequencing (NGS) technology have made it possible to interrogate comprehensively genome-wide genetic variations. However, most existing tools for variation ...

Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...

Background This study explores the ethical and moral challenges faced by paediatric oncologists when they are informed of patient genomic results, particularly during molecular tumour boards (MTBs), ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ...

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death ...