1 Molecular and Cytogenetics Unit, Department of Haematology and Genetics, South Eastern Area Laboratory Services, Prince of Wales Hospital, Randwick, Sydney, Australia Background: Recent ...
1 Genetic Epidemiology Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, Bethesda, Maryland, USA 2 Dermatology Branch, National Cancer Institute, Bethesda, Maryland, USA 3 ...
Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada Objective: To further delineate the phenotypic spectrum of ...
1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...
Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...
Background Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. Methods In ...
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 ...
Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...
1 Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands 2 Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands 3 Department of ...
Background Chimeric antigen receptor T (CAR-T) cells engineered with lentiviral and retroviral vectors have been successfully applied to treat patients with B cell malignancy. However, viral ...
1 University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy 2 University of Roma “La Sapienza” ...
Background Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition.
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