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Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Among authors: aizawa t. Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828. Epub 2024 Sep 24. Circulation. 2024. PMID: 39315434
Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome.
Aizawa T, Wada Y, Hasegawa K, Huang H, Imamura T, Gao J, Kashiwa A, Kohjitani H, Fukuyama M, Kato K, Kato ET, Hisamatsu T, Ohno S, Makiyama T, Kimura T, Horie M. Aizawa T, et al. Europace. 2023 Apr 15;25(4):1491-1499. doi: 10.1093/europace/euac269. Europace. 2023. PMID: 36861347 Free PMC article.
Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Gao J, Makiyama T, Yamamoto Y, Kobayashi T, Aoki H, Maurissen TL, Wuriyanghai Y, Kashiwa A, Imamura T, Aizawa T, Huang H, Kohjitani H, Nishikawa M, Chonabayashi K, Fukuyama M, Manabe H, Nakau K, Wada T, Kato K, Toyoda F, Yoshida Y, Makita N, Woltjen K, Ohno S, Kurebayashi N, Murayama T, Sakurai T, Horie M, Kimura T. Gao J, et al. Among authors: aizawa t. Circ Arrhythm Electrophysiol. 2023 Mar;16(3):e011387. doi: 10.1161/CIRCEP.122.011387. Epub 2023 Mar 3. Circ Arrhythm Electrophysiol. 2023. PMID: 36866681
1,358 results