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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
MYH7 variants cause complex congenital heart disease.
Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. Ritter A, et al. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491958
Ventricular assist devices in children.
O'Connor MJ, Rossano JW. O'Connor MJ, et al. Curr Opin Cardiol. 2014 Jan;29(1):113-21. doi: 10.1097/HCO.0000000000000030. Curr Opin Cardiol. 2014. PMID: 24270395 Review.
Early experience with the HeartMate 3 continuous-flow ventricular assist device in pediatric patients and patients with congenital heart disease: A multicenter registry analysis.
O'Connor MJ, Lorts A, Davies RR, Fynn-Thompson F, Joong A, Maeda K, Mascio CE, McConnell PI, Mongé MC, Nandi D, Peng DM, Rosenthal DN, Si MS, Sutcliffe DL, VanderPluym CJ, Viegas M, Zafar F, Zinn M, Morales DLS. O'Connor MJ, et al. J Heart Lung Transplant. 2020 Jun;39(6):573-579. doi: 10.1016/j.healun.2020.02.007. Epub 2020 Feb 13. J Heart Lung Transplant. 2020. PMID: 32111350
465 results