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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 M, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner J, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Among authors: crotti l. medRxiv [Preprint]. 2024 Jun 18:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443. medRxiv. 2024. Update in: Circulation. 2024 Sep 24. doi: 10.1161/CIRCULATIONAHA.124.069828 PMID: 38370760 Free PMC article. Updated. Preprint.
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, Yang P, Roden DM, George AL Jr, Schwartz PJ. Crotti L, et al. Circulation. 2005 Aug 30;112(9):1251-8. doi: 10.1161/CIRCULATIONAHA.105.549071. Epub 2005 Aug 22. Circulation. 2005. PMID: 16116052
Can a message from the dead save lives?
Schwartz PJ, Crotti L. Schwartz PJ, et al. Among authors: crotti l. J Am Coll Cardiol. 2007 Jan 16;49(2):247-9. doi: 10.1016/j.jacc.2006.10.009. Epub 2006 Dec 29. J Am Coll Cardiol. 2007. PMID: 17222737 Free article. No abstract available.
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
Crotti L, Spazzolini C, Schwartz PJ, Shimizu W, Denjoy I, Schulze-Bahr E, Zaklyazminskaya EV, Swan H, Ackerman MJ, Moss AJ, Wilde AA, Horie M, Brink PA, Insolia R, De Ferrari GM, Crimi G. Crotti L, et al. Circulation. 2007 Nov 20;116(21):2366-75. doi: 10.1161/CIRCULATIONAHA.107.726950. Epub 2007 Nov 5. Circulation. 2007. PMID: 17984373
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
All LQT3 patients need an ICD: true or false?
Schwartz PJ, Spazzolini C, Crotti L. Schwartz PJ, et al. Among authors: crotti l. Heart Rhythm. 2009 Jan;6(1):113-20. doi: 10.1016/j.hrthm.2008.10.017. Epub 2008 Oct 15. Heart Rhythm. 2009. PMID: 19121811 No abstract available.
233 results