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We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...

Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...

2 The State Key Laboratory of Optometry, Ophthalmology and Vision Science, Wenzhou, China Background Myopia is the leading cause of refractive errors. As its pathogenesis is poorly understood, we ...

Background Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a ...

Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to ...

Background/Objectives Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer ...

1 Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London, UK 2 Medical Research Council Clinical Sciences Centre, ...

Correspondence to Dr Christoffer Rasmus Vissing, The Capital Region’s Unit for Inherited Cardiac Diseases, Department of Cardiology, Rigshospitalet, 2100 Copenhagen, Denmark, Denmark; christoffervi{at ...