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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. 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.
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. Tessler I, et al. JAMA Cardiol. 2023 Aug 1;8(8):721-731. doi: 10.1001/jamacardio.2023.1469. JAMA Cardiol. 2023. PMID: 37405741 Free PMC article.
Elastogenesis Correlates With Pigment Production in Murine Aortic Valve Leaflets.
Hutcheson JD, Schlotter F, Creager MD, Li X, Pham T, Vyas P, Higashi H, Body SC, Aikawa M, Singh SA, Kos L, Aikawa E. Hutcheson JD, et al. Front Cardiovasc Med. 2021 Jun 22;8:678401. doi: 10.3389/fcvm.2021.678401. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34239903 Free PMC article.