A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Jama Network Open
Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR
Publication Date: 2021-02-01
Variant appearance in text: DICER1: 184G>A; Val62Ile
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Frontiers In Endocrinology
Martínez de LaPiscina, Idoia I; Hernández-Ramírez, Laura C LC; Portillo, Nancy N; Gómez-Gila, Ana L AL; Urrutia, Inés I; Martínez-Salazar, Rosa R; García-Castaño, Alejandro A; Aguayo, Aníbal A; Rica, Itxaso I; Gaztambide, Sonia S; Faucz, Fabio R FR; Keil, Margaret F MF; Lodish, Maya B MB; Quezado, Martha M; Pankratz, Nathan N; Chittiboina, Prashant P; Lane, John J; Kay, Denise M DM; Mills, James L JL; Castaño, Luis L; Stratakis, Constantine A CA
Publication Date: 2020
Variant appearance in text: DICER1: 184G>A; V62I; rs746671039