Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesCaio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Maria Carolina Tostes Pintão et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2020Cited by 39
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseasesCaio Robledo D’Angioli Costa Quaio, Chong Ae Kim, María José Rivadeneira Obando et al.|Genetics and Molecular Biology|2021Cited by 17
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patientsCaio Robledo D’Angioli Costa Quaio, Chong Ae Kim, Christine Hsiaoyun Chung et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2021Cited by 14
Performance and validation of a tumor mutation profiling, based on artificial intelligence annotation, to assist oncology decision making.Miguel Mitne‐Neto, Elisa Napolitano Ferreira, Alexandre Ricardo dos Santos Fornari et al.|Journal of Clinical Oncology|2019Cited by 0
Comprehensive analysis of advanced-stage solid tumors from TCGA reveal widespread variation of genomics evidence levels across cancer types.Dilhan Weeraratne, Jane Snowdon, Elisa Napolitano Ferreira et al.|Journal of Clinical Oncology|2020Cited by 0