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Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening.
Debiec R, Ebeid A, Hamby S, Anciunaite O, Illsley A, Nizam A, Iqbal M, Safwan K, Saifullah T, Bu'Lock F, Suzuki T, Samani NJ, Webb T, Bolger AP. Debiec R, et al. Among authors: safwan k. Int J Cardiol Congenit Heart Dis. 2024 Sep 18;18:100544. doi: 10.1016/j.ijcchd.2024.100544. eCollection 2024 Dec. Int J Cardiol Congenit Heart Dis. 2024. PMID: 39713234 Free PMC article.
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec RM, Hamby SE, Jones PD, Safwan K, Sosin M, Hetherington SL, Sprigings D, Sharman D, Lee K, Salahshouri P, Wheeldon N, Chukwuemeka A, Boutziouka V, Elamin M, Coolman S, Asiani M, Kharodia S, Skinner GJ, Samani NJ, Webb TR, Bolger AP. Debiec RM, et al. Among authors: safwan k. Heart. 2022 Jun 24;108(14):1114-1120. doi: 10.1136/heartjnl-2021-320428. Heart. 2022. PMID: 35288444 Free PMC article.