Article
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Journal of medical genetics - 1 May 2022
Thomas Quentin, Vitobello Antonio, Tran Mau-Them Frederic, Duffourd Yannis, Fromont Agnès, Giroud Maurice, Daubail Benoit, Jacquin-Piques Agnès, Hervieu-Begue Marie, Moreau Thibault, Osseby Guy-Victor, Garret Philippine, Nambot Sophie, Delanne Julian, Bruel Ange-Line, Sorlin Arthur, Callier Patrick, Denomme-Pichon Anne-Sophie, Faivre Laurence, Béjot Yannick, Philippe Christophe, Thauvin-Robinet Christel, Moutton Sébastien
Abstract excerpt
OBJECTIVE: To assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments. METHODS: Sixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals...
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