Article
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Molecular genetics and metabolism - 1 Aug 2017
Evers Christina, Staufner Christian, Granzow Martin, Paramasivam Nagarajan, Hinderhofer Katrin, Kaufmann Lilian, Fischer Christine, Thiel Christian, Opladen Thomas, Kotzaeridou Urania, Wiemann Stefan, Schlesner Matthias, Eils Roland, Kölker Stefan, Bartram Claus R, Hoffmann Georg F, Moog Ute
Abstract excerpt
Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabolic disorders, and dystonias. Pathogenic or likely pathogenic variants leading to a molecular...
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