Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

• Hoofdauteur: McNeill, Alisdair (auth)
• Formaat: Elektronisch Hoofdstuk
• Taal: Engels
• Gepubliceerd in: MDPI - Multidisciplinary Digital Publishing Institute 2019
• Onderwerpen: Medicine; polymicrogyria; n/a; neurodegenerative disease; next generation sequencing (NGS); inborn error of metabolism; genetic biomarker; deep learning; TUBA1A; Alzheimer's disease (AD); ataxia; risk prediction; p.(Arg2His); movement science; tubulin; R2H; diagnosis; machine learning; metal storage disorders; amyotrophic lateral sclerosis (ALS); glucocerebrosidase; Parkinsonism; cerebellar hypoplasia; Gaucher disease; disease phenotyping; tubulinopathy; Parkinson's disease (PD); dementia; Parkinson's disease
• Online toegang: DOAB: download the publication; DOAB: description of the publication

The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental diso...