Next-generation sequencing of retinoblastoma identifies pathogenic alterations beyond RB1 inactivation that correlate with aggressive histopathologic features

OBJECTIVE: To determine the utility of a comprehensive, targeted-capture next-generation sequencing (NGS) assay for the clinical management of children undergoing enucleation for retinoblastoma. DESIGN: Cohort study. SUBJECTS: 32 children with retinoblastoma. METHODS: We performed targeted NGS using...

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Detalhes bibliográficos
Publicado no:Ophthalmology
Main Authors: Afshar, Armin R., Pekmezci, Melike, Bloomer, Michele M., Cadenas, Nicola J., Stevers, Meredith, Banerjee, Anuradha, Roy, Ritu, Olshen, Adam B., Van Ziffle, Jessica, Onodera, Courtney, Devine, Patrick, Grenert, James P., Bastian, Boris C., Solomon, David A., Damato, Bertil E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7246167/
https://ncbi.nlm.nih.gov/pubmed/32139107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2019.12.005
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