학술논문
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results
Document Type
Article
Author
Sherafati, Alborz; Elsekaily, Omar; Saadatagah, Seyedmohammad; Kochan, David C.; Lee, Christopher; Wiesner, Georgia L.; Liu, Cong; Dellefave-Castillo, Lisa; Namjou, Bahram; Perez, Emma F.; Salvati, Zachary M.; Connolly, John J.; Hakonarson, Hakon; Williams, Marc S.; Jarvik, Gail P.; Chung, Wendy K.; McNally, Elizabeth M.; Manolio, Teri A.; Kullo, Iftikhar J.
Source
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2123-2133, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assessed near-term outcomes following return of results.