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Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.
Dev Med Child Neurol
January 2025
Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.
First-line genetic investigations for rare neurological and developmental conditions have limitations in their ability to detect and characterize copy number variants (CNVs). Whole genome sequencing (WGS) offers potential advantages over other methods of CNV analysis. We aimed to demonstrate the utility of CNV detection using WGS through description of three clinical cases.
View Article and Find Full Text PDFBackground: Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis.
View Article and Find Full Text PDFPRKN-related familial Parkinson's disease: First molecular confirmation from East Africa.
Parkinsonism Relat Disord
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Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands.
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