Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

BACKGROUND: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. METHODS: WES was performed on 66 individuals with neurogenetic diseases usin...

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Detalles Bibliográficos
Autores principales: Grunseich, Christopher, Sarkar, Nathan, Lu, Joyce, Owen, Mallory, Schindler, Alice, Calabresi, Peter A, Sumner, Charlotte J, Roda, Ricardo H, Chaudhry, Vinay, Lloyd, Thomas E, Crawford, Thomas O, Subramony, S H, Oh, Shin J, Richardson, Perry, Tanji, Kurenai, Kwan, Justin Y, Fischbeck, Kenneth H, Mankodi, Ami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522445/
https://www.ncbi.nlm.nih.gov/pubmed/34103343
http://dx.doi.org/10.1136/jnnp-2020-325437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522445/
https://www.ncbi.nlm.nih.gov/pubmed/34103343
http://dx.doi.org/10.1136/jnnp-2020-325437

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