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Giannetti, Federica; Barbieri, Miriam; Shiti, Assad; Casini, Simona; Sager, Philip T; Das, Saumya; Pradhananga, Sabindra; Srinivasan, Dinesh; Nimani, Saranda; Alerni, Nicolò; Louradour, Julien; Mura, Manuela; Gnecchi, Massimiliano; Brink, Paul; Zehender, Manfred; Koren, Gideon; Zaza, Antonio; Crotti, Lia; Wilde, Arthur A M; Schwartz, Peter J; ... (2023). Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2. Europace, 25(5) Oxford University Press 10.1093/europace/euad094
Aktaa, Suleman; Tzeis, Stylianos; Gale, Chris P; Ackerman, Michael J; Arbelo, Elena; Behr, Elijah R; Crotti, Lia; d'Avila, Andre; de Chillou, Christian; Deneke, Thomas; Figueiredo, Márcio; Friede, Tim; Leclercq, Christophe; Merino, Jose L; Semsarian, Chris; Verstrael, Axel; Zeppenfeld, Katja; Tfelt-Hansen, Jacob; Reichlin, Tobias (2023). European Society of Cardiology quality indicators for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Europace, 25(1), pp. 199-210. Oxford University Press 10.1093/europace/euac114
Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y.; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J.; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A.; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O.; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D.; ... (2022). Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nature genetics, 54(3), pp. 232-239. Springer Nature 10.1038/s41588-021-01007-6
Asatryan, Babken; Yee, Lauren; Ben-Haim, Yael; Dobner, Stephan; Servatius, Helge; Roten, Laurent; Tanner, Hildegard; Crotti, Lia; Skinner, Jonathan R.; Remme, Carol Ann; Chevalier, Philippe; Medeiros-Domingo, Argelia; Behr, Elijah R.; Reichlin, Tobias; Odening, Katja E.; Andrew D., Krahn (2021). Sex-Related Differences in Cardiac Channelopathies: Implications for Clinical Practice. Circulation, 143(7), pp. 739-752. American Heart Association 10.1161/CIRCULATIONAHA.120.048250
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
Crotti, Lia; Odening, Katja E; Sanguinetti, Michael C (2020). Heritable arrhythmias associated with abnormal function of cardiac potassium channels. Cardiovascular research, 116(9), pp. 1542-1556. Oxford University Press 10.1093/cvr/cvaa068
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
Hu, Dan; Barajas-Martínez, Hector; Medeiros Domingo, Argelia; Crotti, Lia; Veltmann, Christian; Schimpf, Rainer; Urrutia, Janire; Alday, Aintzane; Casis, Oscar; Pfeiffer, Ryan; Burashnikov, Elena; Caceres, Gabriel; Tester, David J.; Wolpert, Christian; Borggrefe, Martin; Schwartz, Peter; Ackerman, Michael J.; Antzelevitch, Charles (2012). A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. Heart rhythm, 9(5), pp. 760-769. Elsevier 10.1016/j.hrthm.2011.12.006
Medeiros Domingo, Argelia; Tan, Bi-Hua; Crotti, Lia; Tester, David J.; Eckhardt, Lee; Cuoretti, Alessandra; Kroboth, Stacie L.; Song, Chunhua; Zhou, Qing; Kopp, Doug; Schwartz, Peter J.; Makielski, Jonathan C; Ackerman, Michael J. (2010). Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart rhythm, 7(10), pp. 1466-1471. Elsevier 10.1016/j.hrthm.2010.06.016
