Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

We assessed the results of genome sequencing for early-onset dementia. Participants were selected from a memory disorders clinic. Genome sequencing was performed along with C9orf72 repeat expansion testing. All returned sequencing results were Sanger-validated. Prior clinical diagnoses included Alzh...

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Detalles Bibliográficos
Autores principales: Cochran, J. Nicholas, McKinley, Emily C., Cochran, Meagan, Amaral, Michelle D., Moyers, Bryan A., Lasseigne, Brittany N., Gray, David E., Lawlor, James M.J., Prokop, Jeremy W., Geier, Ethan G., Holt, James M., Thompson, Michelle L., Newberry, J. Scott, Yokoyama, Jennifer S., Worthey, Elizabeth A., Geldmacher, David S., Love, Marissa Natelson, Cooper, Gregory M., Myers, Richard M., Roberson, Erik D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913143/
https://www.ncbi.nlm.nih.gov/pubmed/31836585
http://dx.doi.org/10.1101/mcs.a003491

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913143/
https://www.ncbi.nlm.nih.gov/pubmed/31836585
http://dx.doi.org/10.1101/mcs.a003491

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