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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
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
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
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
