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Page 1
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. DiGregorio H, et al. Among authors: foffa i. Heart. 2025 Feb 12;111(5):221-229. doi: 10.1136/heartjnl-2024-324669. Heart. 2025. PMID: 39658198 Free PMC article.
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. Among authors: foffa i. Am J Hum Genet. 2024 Oct 3;111(10):2219-2231. doi: 10.1016/j.ajhg.2024.08.001. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226896 Free PMC article.
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
Carlisle SG, Albasha H, Michelena HI, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo D, Citro R, De Marco M, Tretter JT, McBride KL, Milewicz DM, Body SC, Prakash SK; EBAV Investigators; BAVCon Investigators. Carlisle SG, et al. Among authors: foffa i. PLoS One. 2024 Sep 6;19(9):e0304514. doi: 10.1371/journal.pone.0304514. eCollection 2024. PLoS One. 2024. PMID: 39240962 Free PMC article.
56 results