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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
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
Brignole, Michele; Moya, Angel; de Lange, Frederik J; Deharo, Jean-Claude; Elliott, Perry M; Fanciulli, Alessandra; Fedorowski, Artur; Furlan, Raffaello; Kenny, Rose Anne; Martín, Alfonso; Probst, Vincent; Reed, Matthew J; Rice, Ciara P; Sutton, Richard; Ungar, Andrea; van Dijk, J Gert (2018). 2018 ESC Guidelines for the diagnosis and management of syncope. European heart journal, 39(21), pp. 1883-1948. Oxford University Press 10.1093/eurheartj/ehy037
Brignole, Michele; Moya, Angel; de Lange, Frederik J; Deharo, Jean-Claude; Elliott, Perry M; Fanciulli, Alessandra; Fedorowski, Artur; Furlan, Raffaello; Kenny, Rose Anne; Martín, Alfonso; Probst, Vincent; Reed, Matthew J; Rice, Ciara P; Sutton, Richard; Ungar, Andrea; van Dijk, J Gert (2018). Practical Instructions for the 2018 ESC Guidelines for the diagnosis and management of syncope. European heart journal, 39(21), e43-e80. Oxford University Press 10.1093/eurheartj/ehy071
Blancard, Malorie; Debbiche, Amal; Kato, Koichi; Cardin, Christelle; Guichard, Sabrina Lucienne Anny; Gandjbakhch, Estelle; Probst, Vincent; Haissaguerre, Michel; Extramiana, Fabrice; Hocini, Mélèze; Olivier, Geoffroy; Leenhardt, Antoine; Guicheney, Pascale; Rougier, Jean-Sébastien (2018). An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. Scientific Reports, 8(1), p. 14619. Nature Publishing Group 10.1038/s41598-018-32867-4
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
Roten, Laurent; Derval, Nicolas; Maury, Philippe; Mahida, Saagar; Pascale, Patrizio; Leenhardt, Antoine; Jesel, Laurence; Deisenhofer, Isabel; Kautzner, Josef; Probst, Vincent; Rollin, Anne; Ruidavets, Jean-Bernard; Ferrières, Jean; Sacher, Frédéric; Heg, Dik; Scherr, Daniel; Komatsu, Yuki; Daly, Matthew; Denis, Arnaud; Shah, Ashok; ... (2016). Benign vs malignant inferolateral early repolarization: Focus on the T wave. Heart rhythm, 13(4), pp. 894-902. Elsevier 10.1016/j.hrthm.2015.11.020
Mahida, Saagar; Derval, Nicolas; Sacher, Frederic; Leenhardt, Antoine; Deisenhofer, Isabel; Babuty, Dominique; Schläpfer, Jürg; de Roy, Luc; Frank, Robert; Yli-Mayry, Sinikka; Mabo, Philippe; Rostock, Thomas; Nogami, Akihiko; Pasquié, Jean-Luc; de Chillou, Christian; Kautzner, Josef; Jesel, Laurence; Maury, Philippe; Berte, Benjamin; Yamashita, Seigo; ... (2015). Role of electrophysiological studies in predicting risk of ventricular arrhythmia in early repolarization syndrome. Journal of the American College of Cardiology, 65(2), pp. 151-159. Elsevier 10.1016/j.jacc.2014.10.043
Baruteau, Alban-Elouen; Probst, Vincent; Abriel, Hugues (2015). Inherited progressive cardiac conduction disorders. Current opinion in cardiology, 30(1), pp. 33-39. Lippincott Williams & Wilkins 10.1097/HCO.0000000000000134
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
Fressart, Veronique; Duthoit, Guillaume; Donal, Erwan; Probst, Vincent; Deharo, Jean-Claude; Chevalier, Philippe; Klug, Didier; Dubourg, Olivier; Delacretaz, Etienne; Cosnay, Pierre; Scanu, Patrice; Extramiana, Fabrice; Keller, Dagmar; Hidden-Lucet, Françoise; Simon, Françoise; Bessirard, Vanessa; Roux-Buisson, Nathalie; Hebert, Jean-Louis; Azarine, Arshid; Casset-Senon, Daniele; ... (2010). Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace, 12(6), pp. 861-8. Oxford: Oxford University Press 10.1093/europace/euq104