Schott, Jean-Jacques

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

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

Syam, Ninda Ratna Maharani; Chatel, Stéphanie; Ozhathil, Lijo Cherian; Sottas, Valentin; Rougier, Jean-Sébastien; Baruteau, Alban; Baron, Estelle; Amarouch, Mohamed Yassine; Daumy, Xavier; Probst, Vincent; Schott, Jean-Jacques; Abriel, Hugues (2016). Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block. Journal of the American Heart Association, 5(5) American Heart Association 10.1161/JAHA.114.001625

Daumy, Xavier; Amarouch, Mohamed Yassine; Lindenbaum, Pierre; Bonnaud, Stéphanie; Charpentier, Eric; Bianchi, Beatrice; Nafzger, Sabine Naomi; Baron, Estelle; Fouchard, Swanny; Thollet, Aurélie; Kyndt, Florence; Barc, Julien; Le Scouarnec, Solena; Makita, Naomasa; Le Marec, Hervé; Dina, Christian; Gourraud, Jean-Baptiste; Probst, Vincent; Abriel, Hugues; Redon, Richard; ... (2016). Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. International journal of cardiology, 207, pp. 349-358. Elsevier 10.1016/j.ijcard.2016.01.052

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

Liu, Hui; Chatel, Stéphanie; Simard, Christophe; Syam, Ninda; Salle, Laurent; Probst, Vincent; Morel, Julie; Millat, Gilles; Lopez, Michel; Abriel, Hugues; Schott, Jean-Jacques; Guinamard, Romain; Bouvagnet, Patrice (2013). Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel. PLoS ONE, 8(1), e54131. Public Library of Science 10.1371/journal.pone.0054131

Leoni, Anne-Laure; Gavillet, Bruno; Rougier, Jean-Sébastien; Marionneau, Céline; Probst, Vincent; Le Scouarnec, Solena; Schott, Jean-Jacques; Demolombe, Sophie; Bruneval, Patrick; Huang, Christopher L H; Colledge, William H; Grace, Andrew A; Le Marec, Hervé; Wilde, Arthur A; Mohler, Peter J; Escande, Denis; Abriel, Hugues; Charpentier, Flavien (2010). Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. PLoS ONE, 5(2), e9298. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0009298