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Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: ...

Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...

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Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

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

1 Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Laboratory of Genetic Metabolic ...

*Department of Optometry and Vision Sciences, University of Wales, Redwood Building, King Edward VII Avenue, PO Box 905, Cardiff CF1 3XF, UK †Department of Psychological Medicine, University of Wales, ...

Strabismus (misalignment of the eyes; also known as “squint”) comprises a common heterogeneous group of disorders characterised by a constant or intermittent ocular deviation often associated with ...

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. We aimed ...

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic ...

Background: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic ...