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

Background We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH ...

1 Department of Neurology, National Neuroscience Institute, Tan Tock Seng Hospital, Singapore 2 Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore 3 ...

1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...

2 Centre for Molecular Epidemiology, Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore Correspondence to Chee Seng Ku, Cancer ...

Correspondence to Dr Alessandra Recchia, Life Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy; alessandra.recchia{at}unimore.it Retinal diseases (RD) include inherited retinal ...

3 Department of Human Genetics, McGill University, Montreal, Quebec, Canada Correspondence to Ma'n H Zawati, Centre of Genomics and Policy, McGill University, 740 Dr Penfield Ave., Suite 5200, ...

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 ...

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression ...

Correspondence to Dr Sarah Leigh, Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK; sarah.leigh{at ...

1 Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany 2 Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany 3 Institute of Human Genetics and ...

‡Department of Paediatrics, Royal Preston Hospital, Preston PR2 9HT, UK Dr Slavotinek, National Human Genome Research Institute, National Institutes of Health, Room 4B75, Bldg 49, 49 Convent Drive, ...