The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

por Gourraud, Jean-Baptiste, Barc, Julien, Thollet, Aurélie, Le Scouarnec, Solena, Le Marec, Hervé, Schott, Jean-Jacques, Redon, Richard, Probst, Vincent
Publicado 2016

hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities

por Veerman, Christiaan C., Mengarelli, Isabella, Guan, Kaomei, Stauske, Michael, Barc, Julien, Tan, Hanno L., Wilde, Arthur A. M., Verkerk, Arie O., Bezzina, Connie R.
Publicado 2016

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

por Loussouarn, Gildas, Sternberg, Damien, Nicole, Sophie, Marionneau, Céline, Le Bouffant, Francoise, Toumaniantz, Gilles, Barc, Julien, Malak, Olfat A., Fressart, Véronique, Péréon, Yann, Baró, Isabelle, Charpentier, Flavien
Publicado 2016

Associations of schizophrenia with arrhythmic disorders and electrocardiogram traits: an in-depth genetic exploration of population samples

por Treur, Jorien L, Thijssen, Anaiïs B, Smit, Dirk JA, Tadros, Rafik, Veeneman, Rada R, Denys, Damiaan, Vermeulen, Jentien M, Barc, Julien, Bergstedt, Jacob, Pasman, Joëlle A, Bezzina, Connie R, Verweij, Karin J H
Publicado 2023

FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells

por Caillaud, Amandine, Lévêque, Antoine, Thédrez, Aurélie, Girardeau, Aurore, Canac, Robin, Bray, Lise, Baudic, Manon, Barc, Julien, Gaborit, Nathalie, Lamirault, Guillaume, Gardie, Betty, Idriss, Salam, Rimbert, Antoine, Le May, Cédric, Cariou, Bertrand, Si-Tayeb, Karim
Publicado 2022

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

por Oliveira‐Mendes, Barbara, Feliciangeli, Sylvain, Ménard, Mélissa, Chatelain, Frank, Alameh, Malak, Montnach, Jérôme, Nicolas, Sébastien, Ollivier, Béatrice, Barc, Julien, Baró, Isabelle, Schott, Jean‐Jacques, Probst, Vincent, Kyndt, Florence, Denjoy, Isabelle, Lesage, Florian, Loussouarn, Gildas, De Waard, Michel
Publicado 2021

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

por Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien
Publicado 2022

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum

por Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., van Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Publicado 2019

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

por Al Sayed, Zeina R., Jouni, Mariam, Gourraud, Jean‐Baptiste, Belbachir, Nadjet, Barc, Julien, Girardeau, Aurore, Forest, Virginie, Derevier, Aude, Gaignerie, Anne, Chariau, Caroline, Cimarosti, Bastien, Canac, Robin, Olchesqui, Pierre, Charpentier, Eric, Schott, Jean‐Jacques, Redon, Richard, Baró, Isabelle, Probst, Vincent, Charpentier, Flavien, Loussouarn, Gildas, Zibara, Kazem, Lamirault, Guillaume, Lemarchand, Patricia, Gaborit, Nathalie
Publicado 2021

Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome

por Renard, Estelle, Walton, Richard D., Benoist, David, Brette, Fabien, Bru-Mercier, Gilles, Chaigne, Sébastien, Charron, Sabine, Constantin, Marion, Douard, Matthieu, Dubes, Virginie, Guillot, Bastien, Hof, Thomas, Magat, Julie, Martinez, Marine E., Michel, Cindy, Pallares-Lupon, Néstor, Pasdois, Philippe, Récalde, Alice, Vaillant, Fanny, Sacher, Frédéric, Labrousse, Louis, Rogier, Julien, Kyndt, Florence, Baudic, Manon, Schott, Jean-Jacques, Barc, Julien, Probst, Vincent, Sarlandie, Marine, Marionneau, Céline, Ashton, Jesse L., Hocini, Mélèze, Haïssaguerre, Michel, Bernus, Olivier
Publicado 2023

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

por Wijeyeratne, Yanushi D., Tanck, Michael W., Mizusawa, Yuka, Batchvarov, Velislav, Barc, Julien, Crotti, Lia, Bos, J. Martijn, Tester, David J., Muir, Alison, Veltmann, Christian, Ohno, Seiko, Page, Stephen P., Galvin, Joseph, Tadros, Rafik, Muggenthaler, Martina, Raju, Hariharan, Denjoy, Isabelle, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Skoric-Milosavljevic, Doris, Nannenberg, Eline A., Redon, Richard, Papadakis, Michael, Kyndt, Florence, Dagradi, Federica, Castelletti, Silvia, Torchio, Margherita, Meitinger, Thomas, Lichtner, Peter, Ishikawa, Taisuke, Wilde, Arthur A.M., Takahashi, Kazuhiro, Sharma, Sanjay, Roden, Dan M., Borggrefe, Martin M., McKeown, Pascal P., Shimizu, Wataru, Horie, Minoru, Makita, Naomasa, Aiba, Takeshi, Ackerman, Michael J., Schwartz, Peter J., Probst, Vincent, Bezzina, Connie R., Behr, Elijah R.
Publicado 2020

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

por Crotti, Lia, Spazzolini, Carla, Nyegaard, Mette, Overgaard, Michael T, Kotta, Maria-Christina, Dagradi, Federica, Sala, Luca, Aiba, Takeshi, Ayers, Mark D, Baban, Anwar, Barc, Julien, Beach, Cheyenne M, Behr, Elijah R, Bos, J Martijn, Cerrone, Marina, Covi, Peter, Cuneo, Bettina, Denjoy, Isabelle, Donner, Birgit, Elbert, Adrienne, Eliasson, Håkan, Etheridge, Susan P, Fukuyama, Megumi, Girolami, Francesca, Hamilton, Robert, Horie, Minoru, Iascone, Maria, Jaimez, Juan Jiménez, Jensen, Henrik Kjærulf, Kannankeril, Prince J, Kaski, Juan P, Makita, Naomasa, Muñoz-Esparza, Carmen, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Porretta, Alessandra Pia, Prandstetter, Christopher, Probst, Vincent, Robyns, Tomas, Rosenthal, Eric, Rosés-Noguer, Ferran, Sekarski, Nicole, Singh, Anoop, Spentzou, Georgia, Stute, Fridrike, Tfelt-Hansen, Jacob, Till, Jan, Tobert, Kathryn E, Vinocur, Jeffrey M, Webster, Gregory, Wilde, Arthur A M, Wolf, Cordula M, Ackerman, Michael J, Schwartz, Peter J
Publicado 2023

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

por 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, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., Bezzina, Connie R.
Publicado 2020

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

por 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, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Publicado 2020

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

por 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., Nolte, Ilja M., Smith, Albert Vernon, Bis, Joshua C., Isaacs, Aaron, Newhouse, Stephen J., Evans, Daniel S., Post, Wendy S., Waggott, Daryl, Lyytikäinen, Leo-Pekka, Hicks, Andrew A., Eisele, Lewin, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Ulivi, Sheila, Tanaka, Toshiko, Tester, David J., Chatel, Stéphanie, Gustafsson, Stefan, Kumari, Meena, Morris, Richard W., Naluai, Åsa T., Padmanabhan, Sandosh, Kluttig, Alexander, Strohmer, Bernhard, Panayiotou, Andrie G., Torres, Maria, Knoflach, Michael, Hubacek, Jaroslav A., Slowikowski, Kamil, Raychaudhuri, Soumya, Kumar, Runjun D., Harris, Tamara B., Launer, Lenore J., Shuldiner, Alan R., Alonso, Alvaro, Bader, Joel S., Ehret, Georg, Huang, Hailiang, Kao, W.H. Linda, Strait, James B., Macfarlane, Peter W., Brown, Morris, Caulfield, Mark J., Samani, Nilesh J., Kronenberg, Florian, Willeit, Johann, Smith, J. Gustav, Greiser, Karin H., zu Schwabedissen, Henriette Meyer, Werdan, Karl, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R., Psaty, Bruce M., Rotter, Jerome I., Kolcic, Ivana, Polašek, Ozren, Wright, Alan F., Griffin, Maura, Daly, Mark J., Arnar, David O., Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C., Roden, Dan M., Zuvich, Rebecca L., Emilsson, Valur, Plump, Andrew S., Larson, Martin G., O'Donnell, Christopher J., Yin, Xiaoyan, Bobbo, Marco, D'Adamo, Adamo P., Iorio, Annamaria, Sinagra, Gianfranco, Carracedo, Angel, Cummings, Steven R., Nalls, Michael A., Jula, Antti, Kontula, Kimmo K., Marjamaa, Annukka, Oikarinen, Lasse, Perola, Markus, Porthan, Kimmo, Erbel, Raimund, Hoffmann, Per, Jöckel, Karl-Heinz, Kälsch, Hagen, Nöthen, Markus M., consortium, HRGEN, den Hoed, Marcel, Loos, Ruth J.F., Thelle, Dag S., Gieger, Christian, Meitinger, Thomas, Perz, Siegfried, Peters, Annette, Prucha, Hanna, Sinner, Moritz F., Waldenberger, Melanie, de Boer, Rudolf A., Franke, Lude, van der Vleuten, Pieter A., Beckmann, Britt Maria, Martens, Eimo, Bardai, Abdennasser, Hofman, Nynke, Wilde, Arthur A.M., Behr, Elijah R., Dalageorgou, Chrysoula, Giudicessi, John R., Medeiros-Domingo, Argelia, Barc, Julien, Kyndt, Florence, Probst, Vincent, Ghidoni, Alice, Insolia, Roberto, Hamilton, Robert M., Scherer, Stephen W., Brandimarto, Jeffrey, Margulies, Kenneth, Moravec, Christine E., Fabiola Del, Greco M., Fuchsberger, Christian, O'Connell, Jeffrey R., Lee, Wai K., Watt, Graham C.M., Campbell, Harry, Wild, Sarah H., El Mokhtari, Nour E., Frey, Norbert, Asselbergs, Folkert W., Leach, Irene Mateo, Navis, Gerjan, van den Berg, Maarten P., van Veldhuisen, Dirk J., Kellis, Manolis, Krijthe, Bouwe P., Franco, Oscar H., Hofman, Albert, Kors, Jan A., Uitterlinden, André G., Witteman, Jacqueline C.M., Kedenko, Lyudmyla, Lamina, Claudia, Oostra, Ben A., Abecasis, Gonçalo R., Lakatta, Edward G., Mulas, Antonella, Orrú, Marco, Schlessinger, David, Uda, Manuela, Markus, Marcello R.P., Völker, Uwe, Snieder, Harold, Spector, Timothy D., Ärnlöv, Johan, Lind, Lars, Sundström, Johan, Syvänen, Ann-Christine, Kivimaki, Mika, Kähönen, Mika, Mononen, Nina, Raitakari, Olli T., Viikari, Jorma S., Adamkova, Vera, Kiechl, Stefan, Brion, Maria, Nicolaides, Andrew N., Paulweber, Bernhard, Haerting, Johannes, Dominiczak, Anna F., Nyberg, Fredrik, Whincup, Peter H., Hingorani, Aroon, Schott, Jean-Jacques, Bezzina, Connie R., Ingelsson, Erik, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F., Rudan, Igor, Franke, Andre, Mühleisen, Thomas W., Pramstaller, Peter P., Lehtimäki, Terho J., Paterson, Andrew D., Parsa, Afshin, Liu, Yongmei, van Duijn, Cornelia, Siscovick, David S., Gudnason, Vilmundur, Jamshidi, Yalda, Salomaa, Veikko, Felix, Stephan B., Sanna, Serena, Ritchie, Marylyn D., Stricker, Bruno H., Stefansson, Kari, Boyer, Laurie A., Cappola, Thomas P., Olsen, Jesper V., Lage, Kasper, Schwartz, Peter J., Kääb, Stefan, Chakravarti, Aravinda, Ackerman, Michael J., Pfeufer, Arne, de Bakker, Paul I.W., Newton-Cheh, Christopher
Publicado 2014