日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants

SPARC:一种用于hERG变异风险分类的结构致病性算法

Chatelain, Frank C; de Oliveira, Barbara Ribeiro; Grataloup, Guillaume; Robert, Noé; Alameh, Malak; Thollet, Aurélie; Montnach, Jérôme; Feliciangeli, Sylvain; Rio, Aline; Bibault, Floriane; Bichet, Delphine; Bignucolo, Olivier; Extramiana, Fabrice; Majumder, Rupamanjari; Schott, Jean-Jacques; Probst, Vincent; Denjoy, Isabelle; Lesage, Florian; Loussouarn, Gildas; De Waard, Michel

Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge

布鲁加达综合征SCN5A变异携带者钠通道阻滞剂试验阴性的临床特征和预后

Surget, Elodie; Clerici, Gael; Sacher, Frédéric; Martins, Raphael; Maury, Philippe; Denjoy, Isabelle; Thollet, Aurélie; Barc, Julien; Schott, Jean Jacques; Drapier, Nathalie; Redon, Richard; Gourraud, Jean Baptiste; Probst, Vincent

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

TAD边界缺失会导致PITX2相关的心脏电生理和结构缺陷。

Manon Baudic #,Hiroshige Murata #,Fernanda M Bosada #,Uirá Souto Melo #,Takanori Aizawa #,Pierre Lindenbaum #,Lieve E van der Maarel #,Amaury Guedon,Estelle Baron,Enora Fremy,Adrien Foucal,Taisuke Ishikawa,Hiroya Ushinohama,Sean J Jurgens,Seung Hoan Choi,Florence Kyndt,Solena Le Scouarnec,Vincent Wakker,Aurélie Thollet,Annabelle Rajalu,Tadashi Takaki ,Seiko Ohno,Wataru Shimizu,Minoru Horie,Takeshi Kimura,Patrick T Ellinor ,Florence Petit,Yves Dulac,Paul Bru,Anne Boland,Jean-François Deleuze,Richard Redon,Hervé Le Marec,Thierry Le Tourneau,Jean-Baptiste Gourraud,Yoshinori Yoshida,Naomasa Makita,Claude Vieyres,Takeru Makiyama,Stephan Mundlos,Vincent M Christoffels,Vincent Probst,Jean-Jacques Schott,Julien Barc

aTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS study

遗传性心律失常综合征中的心律失常:TETRIS 研究的结果

Conte, Giulio; Bergonti, Marco; Probst, Vincent; Morita, Hiroshi; Tfelt-Hansen, Jacob; Behr, Elijah R; Kengo, Kusano; Arbelo, Elena; Crotti, Lia; Sarquella-Brugada, Georgia; Wilde, Arthur A M; Calò, Leonardo; Sarkozy, Andrea; de Asmundis, Carlo; Mellor, Greg; Migliore, Federico; Letsas, Kostantinos; Vicentini, Alessandro; Levinstein, Moises; Berne, Paola; Chen, Shih-Ann; Veltmann, Christian; Biernacka, Elżbieta Katarzyna; Carvalho, Paula; Kabawata, Mihoko; Sojema, Kyoko; Gonzalez, Maria Cecilia; Tse, Gary; Thollet, Aurélie; Svane, Jesper; Caputo, Maria Luce; Scrocco, Chiara; Kamakura, Tsukasa; Pardo, Livia Franchetti; Lee, Sharen; Juárez, Christian Krijger; Martino, Annamaria; Lo, Li-Wei; Monaco, Cinzia; Reyes-Quintero, Álvaro E; Martini, Nicolò; Oezkartal, Tardu; Klersy, Catherine; Brugada, Josep; Schwartz, Peter J; Brugada, Pedro; Belhassen, Bernard; Auricchio, Angelo

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

全基因组关联分析发现了新的布鲁加达综合征风险位点,并揭示了钠通道调控在疾病易感性中的新机制。

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; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L Jr; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R

Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies

急性心肌炎患者的家族筛查揭示了遗传性致心律失常性左心室心肌病

Piriou, Nicolas; Marteau, Lara; Kyndt, Florence; Serfaty, Jean Michel; Toquet, Claire; Le Gloan, Laurianne; Warin-Fresse, Karine; Guijarro, Damien; Le Tourneau, Thierry; Conan, Emilie; Thollet, Aurélie; Probst, Vincent; Trochu, Jean-Noël

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

CDK10/细胞周期蛋白 M 是一种控制 ETS2 降解的蛋白激酶,在 STAR 综合征中存在缺陷

Vincent J Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti-Furga, Pascale A Cohen, Laurent Meijer, Pierre Colas