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Bains, Sahej; Giammarino, Lucilla; Nimani, Saranda; Alerni, Nicolo; Tester, David J; Kim, C S John; Christoforou, Nicolas; Louradour, Julien; Horváth, András; Beslac, Olgica; Barbieri, Miriam; Matas, Lluis; Hof, Thomas S.; Lopez, Ruben; Perez-Feliz, Stefanie; Parodi, Chiara; Garcia Casalta, Luisana G.; Jurgensen, Jacqulyn; Barry, Michael A; Bego, Mariana; ... (2024). KCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome. European heart journal, 45(36), pp. 3751-3763. Oxford University Press 10.1093/eurheartj/ehae476
Pinsky, Alexa M; Gao, Xiaozhi; Bains, Sahej; Kim, Cs John; Louradour, Julien; Odening, Katja E; Tester, David J; Giudicessi, John R; Ackerman, Michael J (2023). Injectable Contraceptive, Depo-Provera, Produces Erratic Beating Patterns in Patient-Specific Induced Pluripotent Stem Cell-derived Cardiomyocytes with Type 2 Long QT Syndrome. Heart rhythm, 20(6), pp. 910-917. Elsevier 10.1016/j.hrthm.2023.03.002
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Baruteau, Alban-Elouen; Kyndt, Florence; Behr, Elijah R; Vink, Arja S; Lachaud, Matthias; Joong, Anna; Schott, Jean-Jacques; Horie, Minoru; Denjoy, Isabelle; Crotti, Lia; Shimizu, Wataru; Bos, Johan M; Stephenson, Elizabeth A; Wong, Leonie; Abrams, Dominic J; Davis, Andrew M; Winbo, Annika; Dubin, Anne M; Sanatani, Shubhayan; Liberman, Leonardo; ... (2018). SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European Heart Journal, 39(31), pp. 2879-2887. Oxford University Press 10.1093/eurheartj/ehy412
Arking, Dan E; Pulit, Sara L; Crotti, Lia; van der Harst, Pim; Munroe, Patricia B; Koopmann, Tamara T; Sotoodehnia, Nona; Rossin, Elizabeth J; Morley, Michael; Wang, Xinchen; Johnson, Andrew D; Lundby, Alicia; Gudbjartsson, Daníel F; Noseworthy, Peter A; Eijgelsheim, Mark; Bradford, Yuki; Tarasov, Kirill V; Dörr, Marcus; Müller-Nurasyid, Martina; Lahtinen, Annukka M; ... (2014). Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature genetics, 46(8), pp. 826-836. Nature America 10.1038/ng.3014
Crotti, Lia; Marcou, Cherisse A; Tester, David J; Castelletti, Silvia; Giudicessi, John R; Torchio, Margherita; Medeiros Domingo, Argelia; Simone, Savastano; Will, Melissa L; Dagradi, Federica; Schwartz, Peter J; Ackerman, Michael J (2012). Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. Journal of the American College of Cardiology, 60(15), pp. 1410-1418. Elsevier 10.1016/j.jacc.2012.04.037
Medeiros Domingo, Argelia; Kaku, Toshihiko; Tester, David J; Iturralde-Torres, Pedro; Itty, Ajit; Ye, Bin; Valdivia, Carmen; Ueda, Kazuo; Canizales-Quinteros, Samuel; Tusié-Luna, Maria Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2007). SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation, 116(2), pp. 134-142. Lippincott Williams & Wilkins 10.1161/CIRCULATIONAHA.106.659086
