Published 2/6/2026
Thériault S, Holdcraft JA, Sharipova D, Faucherre A, Debiec RM, Peloso GM, Al-Kassou B, Aranki S, Ashikhmina Swan E, Ballotta A, Bellino M, Björck HM, Boureau AS, Braund PS, Corriveau F, Dagenais F, Folkersen L, Forte A, Francke MD, Frigiola A, Gorbatov S, Guo D, Habchi KM, Heydarpour M, Isselbacher EM, Jopling C, Laporte F, Le Scouarnec S, Li Z, Lichtner P, Maj C, Manikpurage HD, Nelson CP, Nguyen TB, Norris RA, Ong CS, Pibarot P, Roychowdhury T, Sarubbi B, Simonet F, Sundt T, Surakka I, Tessler I, Willer CJ, Wittmann S, Yang B, Berezovets I, Doppler SA, Dreßen M, Knoll K, Puehler T, Schunkert H, Avierinos JF, Bissell MM, Bolger AP, Bossé Y, Bossone E, Brion M, Citro R, de Vincentiis C, Deeb GM, Della Corte A, Dina C, Durst R, Ensminger S, Eriksson P, Evangelista A, Franco-Cereceda A, Gilon D, Giusti B, Hetherington SL, Huggins GS, Krane M, Le Tourneau T, Limongelli G, Mathieu P, Messika-Zeitoun D, Michelena HI, Milewicz D, Muehlschlegel JD, Murdock DR, Nickenig G, Nistri S, Nöthen MM, Pluchinotta F, Prakash SK, Samani NJ, Schott JJ, Webb TR, Zaffran S, Abdelilah-Seyfried S, Eagle K, Schumacher J, Trenkwalder T, Body SC. Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve. Circulation. 2026 Apr 07; 153(14):1060-1076. PMID: 41645906.
Published 2/12/2025
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. Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. Heart. 2025 Feb 12; 111(5):221-229. PMID: 39658198.
Published 9/6/2024
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. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve. PLoS One. 2024; 19(9):e0304514. PMID: 39240962.
Published 9/2/2024
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, Milewicz DM, Prakash SK. Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications. Am J Hum Genet. 2024 Oct 03; 111(10):2219-2231. PMID: 39226896.