Publications:

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: 4870G>C; Ala1624Pro

PubMed Link: 33630087

Variant Present in the following documents:

• jamanetwopen-e210112-s001.pdf

View BVdb publication page

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: DICER1: A1624P; rs372967646

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page