Article
Genomic Autopsy of Sudden Deaths in Young Individuals.
JAMA cardiology - 1 Nov 2021
Webster Gregory, Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Vanoye Carlos G, Potet Franck, Page Patrick, Kearns Samuel D, Pottinger Tess, White Steven, Arunkumar Ponni, Olson Rachael, Kofman Amber, Ibrahim Nora, Ing Alexander, Brew Casey, Yap Kai Lee, Kadri Sabah, George Alfred L, McNally Elizabeth M
Abstract excerpt
Importance: Postmortem genetic testing of young individuals with sudden death has previously identified pathogenic gene variants. However, prior studies primarily considered highly penetrant monogenic variants, often without detailed decedent and family clinical information. Objective: To assess genotype and phenotype risk in a diverse cohort of young decedents with sudden death and their families. Design,...
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