Novel risk predictor of arrhythmias for patients with potassium channel–related congenital long QT syndrome

Autor: Krijger Juarez, Christian ^{1, 13}, Proost, Virginnio M. ^{1, 13}, Tanck, Michael W. ², Dittmann, Sven ³, Bos, J. Martijn ⁴, Crotti, Lia ^{5, 6}, Barc, Julien ^{7, 8}, van den Berg, Maarten P. ⁹, Mujkanovic, Jasmin ^{10, 11}, Rickert, Corinna ³, Lopes Neves, Raquel Almeida ⁴, Musu, Giulia ⁵, Dagradi, Federica ⁵, Giovenzana, Fulvio L.F. ⁵, Clédel, Aurélien ⁷, Thollet, Aurélie ⁷, Giudicessi, John R. ⁴, Tfelt-Hansen, Jacob ^{8, 10}, Probst, Vincent ^{8, 12}, Schwartz, Peter J. ⁵, Ackerman, Michael J. ⁴, Schulze-Bahr, Eric ^{3, 8}, Bezzina, Connie R. ^{1, 8}, Wilde, Arthur A.M. ^{1, 8, ∗}

Publikováno v: In Heart Rhythm

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Autor: O’Neill, Matthew J., Sala, Luca, Denjoy, Isabelle, Wada, Yuko, Kozek, Krystian, Crotti, Lia, Dagradi, Federica, Kotta, Maria-Christina, Spazzolini, Carla, Leenhardt, Antoine, Salem, Joe-Elie, Kashiwa, Asami, Ohno, Seiko, Tao, Ran, Roden, Dan M., Horie, Minoru, Extramiana, Fabrice, Schwartz, Peter J., Kroncke, Brett M.

Publikováno v: In Genetics in Medicine March 2023 25(3)

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Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years’ Experience Provides Guidance for Management

Autor: Dusi, Veronica, Pugliese, Luigi, De Ferrari, Gaetano M., Odero, Attilio, Crotti, Lia, Dagradi, Federica, Castelletti, Silvia, Vicentini, Alessandro, Rordorf, Roberto, Li, Cuilan, Shkolnikova, Maria, Spazzolini, Carla, Schwartz, Peter J.

Publikováno v: In JACC: Clinical Electrophysiology March 2022 8(3):281-294

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Autor: 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, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P.C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M.Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G.A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Arnaout, Alain Al, Amelot, Mathieu, Anselme, Frédéric, Billon, Olivier, Defaye, Pascal, Dupuis, Jean-Marc, Jesel, Laurence, Laurent, Gabriel, Maury, Philippe, Pasquie, Jean-Luc, Wiart, Francois, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

Publikováno v: In Genetics in Medicine January 2021 23(1):47-58