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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. Among authors: garg v. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Impact of Mendelian inheritance in cardiovascular disease.
McBride KL, Garg V. McBride KL, et al. Among authors: garg v. Ann N Y Acad Sci. 2010 Dec;1214:122-37. doi: 10.1111/j.1749-6632.2010.05791.x. Epub 2010 Oct 19. Ann N Y Acad Sci. 2010. PMID: 20958326 Free PMC article. Review.
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. Hanchard NA, et al. Among authors: garg v. Hum Mol Genet. 2016 Jun 1;25(11):2331-2341. doi: 10.1093/hmg/ddw071. Epub 2016 Mar 9. Hum Mol Genet. 2016. PMID: 26965164 Free PMC article.
1,022 results