Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA Dr S R Lalani, Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, ...

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 ...

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...

aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Augustenburger Platz 1, D-13353, Berlin, Germany, bDepartment of General ...

*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, ...

Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...

OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in ...

Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...

a Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK, b Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, ...

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Background This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online ...