Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and Decemb...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5420808/
https://ncbi.nlm.nih.gov/pubmed/28491899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.409
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