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Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C, Elsekaily O, Kochan DC, Alhalabi L, Faizee F, Sharp R, Lindor NM, Kullo IJ. Lee C, et al. Genet Med. 2021 Jul;23(7):1192-1201. doi: 10.1038/s41436-021-01142-9. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824501 Free article.
PURPOSE: We estimated penetrance of actionable genetic variants and assessed near-term outcomes following return of results (RoR). ...Risk reduction surgery occurred more often in participants with tier 1 than those with non-tier …
PURPOSE: We estimated penetrance of actionable genetic variants and assessed near-term outcomes following
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A, Elsekaily O, Saadatagah S, Kochan DC, Lee C, Wiesner GL, Liu C, Dellefave-Castillo L, Namjou B, Perez EF, Salvati ZM, Connolly JJ, Hakonarson H, Williams MS, Jarvik GP, Chung WK, McNally EM, Manolio TA, Kullo IJ. Sherafati A, et al. Genet Med. 2022 Aug 9:S1098-3600(22)00844-9. doi: 10.1016/j.gim.2022.07.007. Online ahead of print. Genet Med. 2022. PMID: 35943490
PURPOSE: We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assessed near-term outcomes following return of results. ...Outcomes occurring within 1 year of return
PURPOSE: We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assesse …