3 Department of Dermatology, KK Women's and Children’s Hospital, Singapore 4 Genetics Service, KK Women's and Children’s Hospital, Singapore Background Neurofibromatosis type 1 (NF1) is a ...

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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 ...

UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants ...

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 ...

The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm ...

Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1–3% of individuals with congenital heart defects. In contrast to other major congenital ...

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 ...

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 ...

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 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 ...

5 Division of Surgical Oncology, Department of Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan 6 Department of Biochemistry, Kawasaki Medical School, Okayama, ...