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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: kim yy. PLoS One. 2024 Sep 6;19(9):e0304514. doi: 10.1371/journal.pone.0304514. eCollection 2024. PLoS One. 2024. PMID: 39240962 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 H, 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: kim yy. medRxiv [Preprint]. 2024 Feb 8:2024.02.07.24302406. doi: 10.1101/2024.02.07.24302406. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Oct 3;111(10):2219-2231. doi: 10.1016/j.ajhg.2024.08.001. PMID: 38370698 Free PMC article. Updated. Preprint.
Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.
Selbst MA, Laughlin MK, Ward CR, Michelena H, 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, Morris SA, McBride KL, Body SC; EBAV Investigators; Prakash SK. Selbst MA, et al. Among authors: kim yy. medRxiv [Preprint]. 2024 Mar 13:2024.03.11.24304079. doi: 10.1101/2024.03.11.24304079. medRxiv. 2024. PMID: 38559132 Free PMC article. Preprint.
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: kim yy. 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
1,147 results