41 results on '"Chatel, Stéphanie"'
Search Results
2. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
- Author
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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., 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 C., 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, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.
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- 2022
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3. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
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Desal, Hubert, Bourcier, Romain, Daumas-Duport, Benjamin, Isidor, Bertrand, Connault, Jérôme, Lebranchu, Pierre, Le Tourneau, Thierry, Viarouge, Marie Pierre, Papagiannaki, Chrisanthi, Piotin, Michel, Redjem, Hocine, Mazighi, Mikael, Desilles, Jean Philippe, Naggara, Olivier, Trystram, Denis, Edjlali-Goujon, Myriam, Rodriguez, Christine, Ben Hassen, Waghi, Saleme, Suzanna, Mounayer, Charbel, Levrier, Olivier, Aguettaz, Pierre, Combaz, Xavier, Pasco, Anne, Berthier, Emeline, Bintner, Marc, Molho, Marc, Gauthier, Pascale, Chivot, Cyril, Costalat, Vincent, Darganzil, Cyril, Bonafé, Alain, Januel, Anne Christine, Michelozzi, Caterina, Cognard, Christophe, Bonneville, Fabrice, Tall, Philippe, Darcourt, Jean, Biondi, Alessandra, Iosif, Cristina, Pomero, Elisa, Ferre, Jean Christophe, Gauvrit, Jean Yves, Eugene, François, Raoult, Hélène, Gentric, Jean Christophe, Ognard, Julien, Anxionnat, René, Bracard, Serge, Derelle, Anne Laure, Tonnelet, Romain, Spelle, Laurent, Ikka, Léon, Fahed, Robert, Rouchaud, Aymeric, Ozanne, Augustin, Caroff, Jildaz, Ben Achour, Nidal, Moret, Jacques, Chabert, Emmanuel, Berge, Jérôme, Marnat, Gaultier, Barreau, Xavier, Gariel, Florent, Clarencon, Frédéric, Aggour, Mohammed, Ricolfi, Frédéric, Chavent, Adrien, Thouant, Pierre, Lebidinsky, Pablo, Lemogne, Brivael, Herbreteau, Denis, Bibi, Richard, Pierot, Laurent, Soize, Sébastien, Labeyrie, Marc Antoine, Vandendries, Christophe, Houdart, Emmanuel, Kazemi, Appoline, Leclerc, Xavier, Pruvo, Jean Pierre, Gallas, Sophie, Velasco, Stéphane, Le Scouarnec, Solena, Bonnaud, Stéphanie, Karakachoff, Matilde, Bourcereau, Emmanuelle, Heurtebise-Chrétien, Sandrine, Menguy, Céline, Dina, Christian, Simonet, Floriane, Moles, Alexis, Lenoble, Cédric, Lindenbaum, Pierre, Chatel, Stéphanie, Génin, Emmanuelle, Deleuze, Jean-François, Schott, Jean-Jacques, Le Marec, Hervé, Loirand, Gervaise, and Redon, Richard
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- 2018
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4. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
- Author
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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., 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, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.
- Published
- 2022
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5. How local reference panels improve imputation in French populations.
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Herzig, Anthony F., Velo‐Suárez, Lourdes, Campion, Dominique, Dartigues, Jean-François, Lambert, Jean-Charles, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Bellenguez, Céline, Clézio, Camille Charbonnier-Le, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, and Rouault, Karen
- Subjects
FRENCH people ,CONSORTIA ,GENOMES ,GENOTYPES - Abstract
Imputation servers offer the exclusive possibility to harness the largest public reference panels which have been shown to deliver very high precision in the imputation of European genomes. Many studies have nonetheless stressed the importance of 'study specific panels' (SSPs) as an alternative and have shown the benefits of combining public reference panels with SSPs. But such combined approaches are not attainable when using external imputation servers. To investigate how to confront this challenge, we imputed 550 French individuals using either the University of Michigan imputation server with the Haplotype Reference Consortium (HRC) panel or an in-house SSP of 850 whole-genome sequenced French individuals. With approximate geo-localization of both our target and SSP individuals we are able to pinpoint different scenarios where SSP-based imputation would be preferred over server-based imputation or vice-versa. This is achieved by showing to a high degree of resolution the importance of the proximity of the reference panel to target individuals; with a focus on the clear added value of SSPs for estimating haplotype phase and for the imputation of rare variants (minor allele-frequency below 0.01). Such benefits were most evident for individuals from the same geographical regions in France as the SSP individuals. Overall, only 42.3% of all 125,442 variants evaluated were better imputed with an SSP from France compared to an external reference panel, however this rises to 58.1% for individuals from geographic regions well covered by the SSP. By investigating haplotype sharing and population fine-structure in France, we show the importance of including SSP haplotypes for imputation but also that they should ideally be combined with large public panels. In the absence of the unattainable results from a combined panel of the HRC and our French SSP, we put forward a pragmatic solution where server-based and SSP-based imputation outcomes can be combined based on comparing posterior genotype probabilities. We show that such an approach can give a level of imputation accuracy in excess of what could be achieved with either strategy alone. The results presented provide detailed insights into the accuracy of imputation that should be expected from different strategies for European populations. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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6. Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome
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Maury, Philippe, Sacher, Frederic, Gourraud, Jean-Baptiste, Pasquié, Jean-Luc, Raczka, Franck, Bongard, Vanina, Duparc, Alexandre, Mondoly, Pierre, Sadron, Marie, Chatel, Stephanie, Derval, Nicolas, Denis, Arnaud, Cardin, Christelle, Davy, Jean-Marc, Hocini, Meleze, Jaïs, Pierre, Jesel, Laurence, Carrié, Didier, Galinier, Michel, Haïssaguerre, Michel, Probst, Vincent, and Rollin, Anne
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- 2015
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7. Prevalence and Prognostic Role of Various Conduction Disturbances in Patients With the Brugada Syndrome
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Maury, Philippe, Rollin, Anne, Sacher, Frédéric, Gourraud, Jean-Baptiste, Raczka, Franck, Pasquié, Jean-Luc, Duparc, Alexandre, Mondoly, Pierre, Cardin, Christelle, Delay, Marc, Derval, Nicolas, Chatel, Stéphanie, Bongard, Vanina, Sadron, Marie, Denis, Arnaud, Davy, Jean-Marc, Hocini, Mélèze, Jaïs, Pierre, Jesel, Laurence, Haïssaguerre, Michel, and Probst, Vincent
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- 2013
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8. Early Repolarization Disease
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Shah, Ashok J., Sacher, Frédéric, Chatel, Stéphanie, Derval, Nicolas, Probst, Vincent, Mabo, Philippe, Liu, Xingpeng, Miyazaki, Shinsuke, Jadidi, Amir S., Forclaz, Andrei, Linton, Nick, Xhaet, Olivier, Scherr, Daniel, Jais, Pierre, Hocini, Meleze, Schott, Jean-Jacques, and Haissaguerre, Michel
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- 2010
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9. Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe
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Alves, Isabel, primary, Giemza, Joanna, additional, Blum, Michael, additional, Bernhardsson, Carolina, additional, Chatel, Stéphanie, additional, Karakachoff, Matilde, additional, Pierre, Aude Saint, additional, Herzig, Anthony F., additional, Olaso, Robert, additional, Monteil, Martial, additional, Gallien, Véronique, additional, Cabot, Elodie, additional, Svensson, Emma, additional, Bacq-Daian, Delphine, additional, Baron, Estelle, additional, Berthellier, Charlotte, additional, Besse, Céline, additional, Blanché, Hélène, additional, Bocher, Ozvan, additional, Boland, Anne, additional, Bonnaud, Stéphanie, additional, Charpentier, Eric, additional, Dandine-Roulland, Claire, additional, Férec, Claude, additional, Fruchet, Christine, additional, Lecointe, Simon, additional, Floch, Edith Le, additional, Ludwig, Thomas, additional, Marenne, Gaëlle, additional, Meyer, Vincent, additional, Quellery, Elisabeth, additional, Racimo, Fernando, additional, Rouault, Karen, additional, Sandron, Florian, additional, Schott, Jean-Jacques, additional, Suarez, Lourdes Velo, additional, Violleau, Jade, additional, Willerslev, Eske, additional, Coativy, Yves, additional, Jézéquel, Mael, additional, Le-Bris, Daniel, additional, Nicolas, Clément, additional, Pailler, Yvan, additional, Goldberg, Marcel, additional, Zins, Marie, additional, Le-Marec, Hervé, additional, Jakobsson, Mattias, additional, Darlu, Pierre, additional, Génin, Emmanuelle, additional, Deleuze, Jean-François, additional, Redon, Richard, additional, and Dina, Christian, additional
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- 2022
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10. Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
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Le Scouarnec, Solena, Karakachoff, Matilde, Gourraud, Jean-Baptiste, Lindenbaum, Pierre, Bonnaud, Stéphanie, Portero, Vincent, Duboscq-Bidot, Laëtitia, Daumy, Xavier, Simonet, Floriane, Teusan, Raluca, Baron, Estelle, Violleau, Jade, Persyn, Elodie, Bellanger, Lise, Barc, Julien, Chatel, Stéphanie, Martins, Raphaël, Mabo, Philippe, Sacher, Frédéric, Haïssaguerre, Michel, Kyndt, Florence, Schmitt, Sébastien, Bézieau, Stéphane, Le Marec, Hervé, Dina, Christian, Schott, Jean-Jacques, Probst, Vincent, and Redon, Richard
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- 2015
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11. Prediction of Unruptured Intracranial Aneurysm Evolution: The UCAN Project
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L’Allinec, Vincent, primary, Chatel, Stéphanie, additional, Karakachoff, Matilde, additional, Bourcereau, Emmanuelle, additional, Lamoureux, Zeineb, additional, Gaignard, Alban, additional, Autrusseau, Florent, additional, Jouan, Solène, additional, Vion, Anne-Clemence, additional, Loirand, Gervaise, additional, Desal, Hubert, additional, Naggara, Olivier, additional, Redon, Richard, additional, Edjlali, Myriam, additional, and Bourcier, Romain, additional
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- 2020
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12. Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel
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HAÏSSAGUERRE, MICHEL, CHATEL, STÉPHANIE, SACHER, FREDERIC, WEERASOORIYA, RUKSHEN, PROBST, VINCENT, LOUSSOUARN, GILDAS, HORLITZ, MARC, LIERSCH, RUEDIGE, SCHULZE-BAHR, ERIC, WILDE, ARTHUR, KÄÄB, STEFAN, KOSTER, JOSEPH, RUDY, YORAM, MAREC, HERVÉ LE, and SCHOTT, JEAN JACQUES
- Published
- 2009
13. Moment estimators of relatedness from low-depth whole-genome sequencing data.
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Herzig, Anthony F., Ciullo, M., FranceGenRef Consortium, Deleuze, Jean-François, Génin, Emmanuelle, Redon, Richard, Adjou, Chantal, Chatel, Stéphanie, Férec, Claude, Goldberg, Marcel, Halbout, Philippe-Antoine, Le Marec, Hervé, L'Helgouach, David, Rouault, Karen, Schott, Jean-Jacques, Vogelsperger, Anne, Zins, Marie, Bacq, Delphine, Blanchet, Hélène, and Boland, Anne
- Subjects
NUCLEOTIDE sequencing ,KINSHIP ,BROTHERLINESS ,GENOTYPES - Abstract
Background: Estimating relatedness is an important step for many genetic study designs. A variety of methods for estimating coefficients of pairwise relatedness from genotype data have been proposed. Both the kinship coefficient φ and the fraternity coefficient ψ for all pairs of individuals are of interest. However, when dealing with low-depth sequencing or imputation data, individual level genotypes cannot be confidently called. To ignore such uncertainty is known to result in biased estimates. Accordingly, methods have recently been developed to estimate kinship from uncertain genotypes. Results: We present new method-of-moment estimators of both the coefficients φ and ψ calculated directly from genotype likelihoods. We have simulated low-depth genetic data for a sample of individuals with extensive relatedness by using the complex pedigree of the known genetic isolates of Cilento in South Italy. Through this simulation, we explore the behaviour of our estimators, demonstrate their properties, and show advantages over alternative methods. A demonstration of our method is given for a sample of 150 French individuals with down-sampled sequencing data. Conclusions: We find that our method can provide accurate relatedness estimates whilst holding advantages over existing methods in terms of robustness, independence from external software, and required computation time. The method presented in this paper is referred to as LowKi (Low-depth Kinship) and has been made available in an R package (https://github.com/genostats/LowKi). [ABSTRACT FROM AUTHOR]
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- 2022
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14. Integrated clinical and omics approach to rare diseases : Novel genes and oligogenic inheritance in holoprosencephaly
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Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., Bovenberg, Jasper A., De Craen, Anton J.M., Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, David, Véronique, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., Bovenberg, Jasper A., De Craen, Anton J.M., Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, and David, Véronique
- Published
- 2019
15. Integrated clinical and omics approach to rare diseases: Novel genes and oligogenic inheritance in holoprosencephaly
- Author
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CMM Groep Kaaij, Genetica Klinische Genetica, Cancer, CMM Groep De Ridder, Child Health, CMM Groep Kloosterman, CMM USEQ Facility, Hubrecht Institute with UMC, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., Bovenberg, Jasper A., De Craen, Anton J.M., Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, David, Véronique, CMM Groep Kaaij, Genetica Klinische Genetica, Cancer, CMM Groep De Ridder, Child Health, CMM Groep Kloosterman, CMM USEQ Facility, Hubrecht Institute with UMC, Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean François, Deleuze, Jean François, Lambert, Jean Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, Charbonnier-Le Clézio, Camille, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Wijmenga, Cisca, Swertz, Morris A., Eline Slagboom, P., Van Ommen, Gert Jan B., Van Duijn, Cornelia M., Boomsma, Dorret I., De Bakker, Paul I.W., Bovenberg, Jasper A., De Craen, Anton J.M., Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Sujie Cao, Jeremy, Van Dijk, Freerk, Neerincx, Pieter B.T., Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Vermaat, Martijn, Laros, Jeroen F.J., Den Dunnen, Johan T., De Knijff, Peter, Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Mathijs Kattenberg, V., Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D.C., Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, De Tayrac, Marie, and David, Véronique
- Published
- 2019
16. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
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Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean-François, Deleuze, Jean-François, Lambert, Jean-Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, -Le Clézio, Camille Charbonnier, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, and Bonneau, Dominique
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- 2016
- Full Text
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17. Prediction of Unruptured Intracranial Aneurysm Evolution: The UCAN Project.
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L'Allinec, Vincent, Chatel, Stéphanie, Karakachoff, Matilde, Bourcereau, Emmanuelle, Lamoureux, Zeineb, Gaignard, Alban, Autrusseau, Florent, Jouan, Solène, Vion, Anne-Clemence, Loirand, Gervaise, Desal, Hubert, Naggara, Olivier, Redon, Richard, Edjlali, Myriam, and Bourcier, Romain
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- 2020
- Full Text
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18. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
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Bourcier, Romain, primary, Le Scouarnec, Solena, additional, Bonnaud, Stéphanie, additional, Karakachoff, Matilde, additional, Bourcereau, Emmanuelle, additional, Heurtebise-Chrétien, Sandrine, additional, Menguy, Céline, additional, Dina, Christian, additional, Simonet, Floriane, additional, Moles, Alexis, additional, Lenoble, Cédric, additional, Lindenbaum, Pierre, additional, Chatel, Stéphanie, additional, Isidor, Bertrand, additional, Génin, Emmanuelle, additional, Deleuze, Jean-François, additional, Schott, Jean-Jacques, additional, Le Marec, Hervé, additional, Loirand, Gervaise, additional, Desal, Hubert, additional, Redon, Richard, additional, Bourcier, Romain, additional, Daumas-Duport, Benjamin, additional, Connault, Jérôme, additional, Lebranchu, Pierre, additional, Le Tourneau, Thierry, additional, Viarouge, Marie Pierre, additional, Papagiannaki, Chrisanthi, additional, Piotin, Michel, additional, Redjem, Hocine, additional, Mazighi, Mikael, additional, Desilles, Jean Philippe, additional, Naggara, Olivier, additional, Trystram, Denis, additional, Edjlali-Goujon, Myriam, additional, Rodriguez, Christine, additional, Ben Hassen, Waghi, additional, Saleme, Suzanna, additional, Mounayer, Charbel, additional, Levrier, Olivier, additional, Aguettaz, Pierre, additional, Combaz, Xavier, additional, Pasco, Anne, additional, Berthier, Emeline, additional, Bintner, Marc, additional, Molho, Marc, additional, Gauthier, Pascale, additional, Chivot, Cyril, additional, Costalat, Vincent, additional, Darganzil, Cyril, additional, Bonafé, Alain, additional, Januel, Anne Christine, additional, Michelozzi, Caterina, additional, Cognard, Christophe, additional, Bonneville, Fabrice, additional, Tall, Philippe, additional, Darcourt, Jean, additional, Biondi, Alessandra, additional, Iosif, Cristina, additional, Pomero, Elisa, additional, Ferre, Jean Christophe, additional, Gauvrit, Jean Yves, additional, Eugene, François, additional, Raoult, Hélène, additional, Gentric, Jean Christophe, additional, Ognard, Julien, additional, Anxionnat, René, additional, Bracard, Serge, additional, Derelle, Anne Laure, additional, Tonnelet, Romain, additional, Spelle, Laurent, additional, Ikka, Léon, additional, Fahed, Robert, additional, Rouchaud, Aymeric, additional, Ozanne, Augustin, additional, Caroff, Jildaz, additional, Ben Achour, Nidal, additional, Moret, Jacques, additional, Chabert, Emmanuel, additional, Berge, Jérôme, additional, Marnat, Gaultier, additional, Barreau, Xavier, additional, Gariel, Florent, additional, Clarencon, Frédéric, additional, Aggour, Mohammed, additional, Ricolfi, Frédéric, additional, Chavent, Adrien, additional, Thouant, Pierre, additional, Lebidinsky, Pablo, additional, Lemogne, Brivael, additional, Herbreteau, Denis, additional, Bibi, Richard, additional, Pierot, Laurent, additional, Soize, Sébastien, additional, Labeyrie, Marc Antoine, additional, Vandendries, Christophe, additional, Houdart, Emmanuel, additional, Kazemi, Appoline, additional, Leclerc, Xavier, additional, Pruvo, Jean Pierre, additional, Gallas, Sophie, additional, and Velasco, Stéphane, additional
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- 2018
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19. Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
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Yagihara, Nobue, primary, Watanabe, Hiroshi, additional, Barnett, Phil, additional, Duboscq‐Bidot, Laetitia, additional, Thomas, Atack C., additional, Yang, Ping, additional, Ohno, Seiko, additional, Hasegawa, Kanae, additional, Kuwano, Ryozo, additional, Chatel, Stéphanie, additional, Redon, Richard, additional, Schott, Jean‐Jacques, additional, Probst, Vincent, additional, Koopmann, Tamara T., additional, Bezzina, Connie R., additional, Wilde, Arthur A. M., additional, Nakano, Yukiko, additional, Aiba, Takeshi, additional, Miyamoto, Yoshihiro, additional, Kamakura, Shiro, additional, Darbar, Dawood, additional, Donahue, Brian S., additional, Shigemizu, Daichi, additional, Tanaka, Toshihiro, additional, Tsunoda, Tatsuhiko, additional, Suda, Masayoshi, additional, Sato, Akinori, additional, Minamino, Tohru, additional, Endo, Naoto, additional, Shimizu, Wataru, additional, Horie, Minoru, additional, Roden, Dan M., additional, and Makita, Naomasa, additional
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- 2016
- Full Text
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20. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
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Colin, Estelle, primary, Daniel, Jens, additional, Ziegler, Alban, additional, Wakim, Jamal, additional, Scrivo, Aurora, additional, Haack, Tobias B., additional, Khiati, Salim, additional, Denommé, Anne-Sophie, additional, Amati-Bonneau, Patrizia, additional, Charif, Majida, additional, Procaccio, Vincent, additional, Reynier, Pascal, additional, Aleck, Kyrieckos A., additional, Botto, Lorenzo D., additional, Herper, Claudia Lena, additional, Kaiser, Charlotte Sophia, additional, Nabbout, Rima, additional, N’Guyen, Sylvie, additional, Mora-Lorca, José Antonio, additional, Assmann, Birgit, additional, Christ, Stine, additional, Meitinger, Thomas, additional, Strom, Tim M., additional, Prokisch, Holger, additional, Miranda-Vizuete, Antonio, additional, Hoffmann, Georg F., additional, Lenaers, Guy, additional, Bomont, Pascale, additional, Liebau, Eva, additional, Bonneau, Dominique, additional, Génin, Emmanuelle, additional, Campion, Dominique, additional, Dartigues, Jean-François, additional, Deleuze, Jean-François, additional, Lambert, Jean-Charles, additional, Redon, Richard, additional, Ludwig, Thomas, additional, Grenier-Boley, Benjamin, additional, Letort, Sébastien, additional, Lindenbaum, Pierre, additional, Meyer, Vincent, additional, Quenez, Olivier, additional, Dina, Christian, additional, Bellenguez, Céline, additional, -Le Clézio, Camille Charbonnier, additional, Giemza, Joanna, additional, Chatel, Stéphanie, additional, Férec, Claude, additional, Le Marec, Hervé, additional, Letenneur, Luc, additional, Nicolas, Gaël, additional, Rouault, Karen, additional, Bacq, Delphine, additional, Boland, Anne, additional, and Lechner, Doris, additional
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- 2016
- Full Text
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21. Dysfunction of the Voltage‐Gated K + Channel β2 Subunit in a Familial Case of Brugada Syndrome
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Portero, Vincent, primary, Le Scouarnec, Solena, additional, Es‐Salah‐Lamoureux, Zeineb, additional, Burel, Sophie, additional, Gourraud, Jean‐Baptiste, additional, Bonnaud, Stéphanie, additional, Lindenbaum, Pierre, additional, Simonet, Floriane, additional, Violleau, Jade, additional, Baron, Estelle, additional, Moreau, Eléonore, additional, Scott, Carol, additional, Chatel, Stéphanie, additional, Loussouarn, Gildas, additional, O'Hara, Thomas, additional, Mabo, Philippe, additional, Dina, Christian, additional, Le Marec, Hervé, additional, Schott, Jean‐Jacques, additional, Probst, Vincent, additional, Baró, Isabelle, additional, Marionneau, Céline, additional, Charpentier, Flavien, additional, and Redon, Richard, additional
- Published
- 2016
- Full Text
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22. Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block
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Syam, Ninda, primary, Chatel, Stéphanie, additional, Ozhathil, Lijo Cherian, additional, Sottas, Valentin, additional, Rougier, Jean‐Sébastien, additional, Baruteau, Alban, additional, Baron, Estelle, additional, Amarouch, Mohamed‐Yassine, additional, Daumy, Xavier, additional, Probst, Vincent, additional, Schott, Jean‐Jacques, additional, and Abriel, Hugues, additional
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- 2016
- Full Text
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23. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
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Bezzina, Connie R., Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O., Schwartz, Peter J., Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R., Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M., Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J., Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L., Roden, Dan M., Christoffels, Vincent M., Le Marec, Hervé, Wilde, Arthur A., Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, Redon, Richard, Amsterdam Cardiovascular Sciences, Cardiology, Medical Biology, Other departments, and Amsterdam Reproduction & Development
- Published
- 2013
24. Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project.
- Author
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Bourcier, Romain, Chatel, Stéphanie, Bourcereau, Emmanuelle, Jouan, Solène, Marec, Hervé Le, Daumas-Duport, Benjamin, Sevin-Allouet, Mathieu, Guillon, Benoit, Roualdes, Vincent, Riem, Tanguy, Isidor, Bertrand, Lebranchu, Pierre, Connault, Jérôme, Tourneau, Thierry Le, Gaignard, Alban, Loirand, Gervaise, Redon, Richard, and Desal, Hubert
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- 2017
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25. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
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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, Asa 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, Meyer Zu Schwabedissen, Henriette, 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, 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, Greco M, Fabiola Del, 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, Mateo Leach, Irene, 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 D, 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 M, 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, 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, Asa 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, Meyer Zu Schwabedissen, Henriette, 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, 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, Greco M, Fabiola Del, 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, Mateo Leach, Irene, 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 D, 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 M, 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, and Newton-Cheh, Christopher
- Abstract
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.
- Published
- 2014
- Full Text
- View/download PDF
26. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
- Author
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Bezzina, Connie, Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O, Schwartz, Peter J, Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Borggrefe, Martin, Schimpf, Rainer, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R, Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M, Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J, Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L, Roden, Dan M, Christoffels, Vincent M, Le Marec, Hervé, Wilde, Arthur A, Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, Redon, Richard, Bezzina, Connie, Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O, Schwartz, Peter J, Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Borggrefe, Martin, Schimpf, Rainer, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R, Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M, Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J, Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L, Roden, Dan M, Christoffels, Vincent M, Le Marec, Hervé, Wilde, Arthur A, Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, and Redon, Richard
- Published
- 2013
27. Early repolarization disease
- Author
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UCL - (MGD) Service de cardiologie, Shah, Ashok J., Sacher, Frédéric, Chatel, Stéphanie, Derval, Nicolas, Probst, Vincent, Mabo, Philippe, Liu, Xingpeng, Miyazaki, Shinsuke, Jadidi, Amir S., Forclaz, Andrei, Linton, Nick, Xhaet, Olivier, Scherr, Daniel, Jais, Pierre, Hocini, Meleze, Schott, Jean-Jacques, Haissaguerre, Michel, UCL - (MGD) Service de cardiologie, Shah, Ashok J., Sacher, Frédéric, Chatel, Stéphanie, Derval, Nicolas, Probst, Vincent, Mabo, Philippe, Liu, Xingpeng, Miyazaki, Shinsuke, Jadidi, Amir S., Forclaz, Andrei, Linton, Nick, Xhaet, Olivier, Scherr, Daniel, Jais, Pierre, Hocini, Meleze, Schott, Jean-Jacques, and Haissaguerre, Michel
- Abstract
Sudden cardiac death (SCD) is defined as an unexpected natural death from a cardiac cause within a short time period, generally less than or equal to 1. hour from the onset of symptoms, in a person without any prior condition that seems to result in instantaneous fatality. Although such a rapid death process is attributed to cardiac arrhythmia, arrhythmia often represents the final common event in a series of events precipitated by known (95%) or unknown (5%) cardiac disorder. Electrocardiographic early repolarization involving the inferolateral leads, which was labeled benign until recently, is the latest of the primary electrical cardiac diseases discovered to have significantly high prevalence in SCD cases. Careful evaluation of patients having early repolarization associated with unexplained syncope, family history of SCD, or idiopathic ventricular arrhythmias is recommended. © 2010 Elsevier Inc.
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- 2010
28. Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
- Author
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Bezzina, Connie R, primary, Barc, Julien, additional, Mizusawa, Yuka, additional, Remme, Carol Ann, additional, Gourraud, Jean-Baptiste, additional, Simonet, Floriane, additional, Verkerk, Arie O, additional, Schwartz, Peter J, additional, Crotti, Lia, additional, Dagradi, Federica, additional, Guicheney, Pascale, additional, Fressart, Véronique, additional, Leenhardt, Antoine, additional, Antzelevitch, Charles, additional, Bartkowiak, Susan, additional, Schulze-Bahr, Eric, additional, Zumhagen, Sven, additional, Behr, Elijah R, additional, Bastiaenen, Rachel, additional, Tfelt-Hansen, Jacob, additional, Olesen, Morten Salling, additional, Kääb, Stefan, additional, Beckmann, Britt M, additional, Weeke, Peter, additional, Watanabe, Hiroshi, additional, Endo, Naoto, additional, Minamino, Tohru, additional, Horie, Minoru, additional, Ohno, Seiko, additional, Hasegawa, Kanae, additional, Makita, Naomasa, additional, Nogami, Akihiko, additional, Shimizu, Wataru, additional, Aiba, Takeshi, additional, Froguel, Philippe, additional, Balkau, Beverley, additional, Lantieri, Olivier, additional, Torchio, Margherita, additional, Wiese, Cornelia, additional, Weber, David, additional, Wolswinkel, Rianne, additional, Coronel, Ruben, additional, Boukens, Bas J, additional, Bézieau, Stéphane, additional, Charpentier, Eric, additional, Chatel, Stéphanie, additional, Despres, Aurore, additional, Gros, Françoise, additional, Kyndt, Florence, additional, Lecointe, Simon, additional, Lindenbaum, Pierre, additional, Portero, Vincent, additional, Violleau, Jade, additional, Gessler, Manfred, additional, Tan, Hanno L, additional, Roden, Dan M, additional, Christoffels, Vincent M, additional, Le Marec, Hervé, additional, Wilde, Arthur A, additional, Probst, Vincent, additional, Schott, Jean-Jacques, additional, Dina, Christian, additional, and Redon, Richard, additional
- Published
- 2013
- Full Text
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29. Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel
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Liu, Hui, primary, Chatel, Stéphanie, additional, Simard, Christophe, additional, Syam, Ninda, additional, Salle, Laurent, additional, Probst, Vincent, additional, Morel, Julie, additional, Millat, Gilles, additional, Lopez, Michel, additional, Abriel, Hugues, additional, Schott, Jean-Jacques, additional, Guinamard, Romain, additional, and Bouvagnet, Patrice, additional
- Published
- 2013
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30. Identification of Large Families in Early Repolarization Syndrome
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Gourraud, Jean-Baptiste, primary, Le Scouarnec, Solena, additional, Sacher, Frederic, additional, Chatel, Stéphanie, additional, Derval, Nicolas, additional, Portero, Vincent, additional, Chavernac, Pascal, additional, Sandoval, Juan E., additional, Mabo, Philippe, additional, Redon, Richard, additional, Schott, Jean-Jacques, additional, Le Marec, Hervé, additional, Haïssaguerre, Michel, additional, and Probst, Vincent, additional
- Published
- 2013
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31. Parental Electrocardiographic Screening Identifies a High Degree of Inheritance for Congenital and Childhood Nonimmune Isolated Atrioventricular Block
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Baruteau, Alban-Elouen, primary, Behaghel, Albin, additional, Fouchard, Swanny, additional, Mabo, Philippe, additional, Schott, Jean-Jacques, additional, Dina, Christian, additional, Chatel, Stéphanie, additional, Villain, Elisabeth, additional, Thambo, Jean-Benoit, additional, Marçon, François, additional, Gournay, Véronique, additional, Rouault, Francis, additional, Chantepie, Alain, additional, Guillaumont, Sophie, additional, Godart, François, additional, Martins, Raphaël P., additional, Delasalle, Béatrice, additional, Bonnet, Caroline, additional, Fraisse, Alain, additional, Schleich, Jean-Marc, additional, Lusson, Jean-René, additional, Dulac, Yves, additional, Daubert, Jean-Claude, additional, Le Marec, Hervé, additional, and Probst, Vincent, additional
- Published
- 2012
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32. 325 Clinical presentation and long-term clinical outcomes of non immune, isolated atrioventricular block diagnosed in utero or early childhood
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Baruteau, Alban-Elouen, primary, Villain, Elisabeth, additional, Thambo, Jean-Benoit, additional, Marçon, François, additional, Gournay, Véronique, additional, Rouault, Francis, additional, Chantepie, Alain, additional, Guillaumont, Sophie, additional, Godart, François, additional, Bonnet, Caroline, additional, Fraisse, Alain, additional, Schleich, Jean-Marc, additional, Lusson, Jean-René, additional, Dulac, Yves, additional, Fouchard, Swanny, additional, Chatel, Stéphanie, additional, Behaghel, Albin, additional, Leclercq, Christophe, additional, Daubert, Jean-Claude, additional, Schott, Jean-Jacques, additional, Le Marec, Hervé, additional, Mabo, Philippe, additional, and Probst, Vincent, additional
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- 2012
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33. 341 Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood non-immune isolated atrioventricular block
- Author
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Baruteau, Alban-Elouen, primary, Behaghel, Albin, additional, Fouchard, Swanny, additional, Dina, Christian, additional, Villain, Elisabeth, additional, Thambo, Jean-Benoit, additional, Marçon, François, additional, Gournay, Véronique, additional, Rouault, Francis, additional, Chantepie, Alain, additional, Guillaumont, Sophie, additional, Godart, François, additional, Bonnet, Caroline, additional, Fraisse, Alain, additional, Schleich, Jean-Marc, additional, Lusson, Jean-René, additional, Dulac, Yves, additional, Martins, Raphaël, additional, Chatel, Stéphanie, additional, Schott, Jean-Jacques, additional, Daubert, Jean-Claude, additional, Le Marec, Hervé, additional, Mabo, Philippe, additional, and Probst, Vincent, additional
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- 2012
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34. TRPM4 Genetic Variants in Patients with Congenital Atrio-Ventricular Block
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Syam, Ninda, Chatel, Stephanie, Rougier, Jean-Sebastien, Sottas, Valentin, Baruteau, Alban, Probst, Vincent, Schott, Jean-Jacques, and Abriel, Hugues
- Published
- 2014
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35. Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel.
- Author
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Hui Liu, Chatel, Stéphanie, Simard, Christophe, Syam, Ninda, Salle, Laurent, Probst, Vincent, Morel, Julie, Millat, Gilles, Lopez, Michel, Abriel, Hugues, Schott, Jean-Jacques, Guinamard, Romain, and Bouvagnet, Patrice
- Subjects
- *
BRUGADA syndrome , *DNA analysis , *GENETIC mutation , *HEART conduction system , *GENE expression , *MEMBRANE potential - Abstract
Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated with right bundle branch block and the TRPM4 gene is involved in conduction blocks, we screened TRPM4 for anomalies in BrS cases. The DNA of 248 BrS cases with no SCN5A mutations were screened for TRPM4 mutations. Among this cohort, 20 patients had 11 TRPM4 mutations. Two mutations were previously associated with cardiac conduction blocks and 9 were new mutations (5 absent from ~14'000 control alleles and 4 statistically more prevalent in this BrS cohort than in control alleles). In addition to Brugada, three patients had a bifascicular block and 2 had a complete right bundle branch block. Functional and biochemical studies of 4 selected mutants revealed that these mutations resulted in either a decreased expression (p.Pro779Arg and p.Lys914X) or an increased expression (p.Thr873Ile and p.Leu1075Pro) of TRPM4 channel. TRPM4 mutations account for about 6% of BrS. Consequences of these mutations are diverse on channel electrophysiological and cellular expression. Because of its effect on the resting membrane potential, reduction or increase of TRPM4 channel function may both reduce the availability of sodium channel and thus lead to BrS. [ABSTRACT FROM AUTHOR]
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- 2013
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- View/download PDF
36. Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel.
- Author
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HAÏSSAGUERRE, MICHEL, CHATEL, STÉPHANIE, SACHER, FREDERIC, WEERASOORIYA, RUKSHEN, PROBST, VINCENT, LOUSSOUARN, GILDAS, HORLITZ, MARC, LIERSCH, RUEDIGE, SCHULZE‐BAHR, ERIC, WILDE, ARTHUR, KÄÄB, STEFAN, KOSTER, JOSEPH, RUDY, YORAM, MAREC, HERVÉ LE, and SCHOTT, JEAN JACQUES
- Subjects
- *
CASE studies , *VENTRICULAR fibrillation , *HUMAN genetic variation , *ELECTROCARDIOGRAPHY , *ISOPROTERENOL , *QUINIDINE , *NUCLEOTIDE sequence - Abstract
Background: Early repolarization in the inferolateral leads has been recently recognized as a frequent syndrome associated with idiopathic ventricular fibrillation (VF). We report the case of a patient presenting dramatic changes in the ECG in association with recurrent VF in whom a novel genetic variant has been identified. Case Report: This young female (14 years) was resuscitated in 2001 following an episode of sudden death due to VF. All examinations including coronary angiogram with ergonovine injection, MRI, and flecainide or isoproterenol infusion were normal. The patient had multiple (>100) recurrences of VF unresponsive to beta-blockers, lidocaine/mexiletine, verapamil, and amiodarone. Recurrences of VF were associated with massive accentuation of the early repolarization pattern at times mimicking acute myocardial ischemia. Coronary angiography during an episode with 1.2 mV J/ST elevation was normal. Isoproterenol infusion acutely suppressed electrical storms, while quinidine eliminated all recurrences of VF and restored a normal ECG over a follow-up of 65 months. Genomic DNA sequencing of KATP channel genes showed missense variant in exon 3 (NC_000012) of the KCNJ8 gene, a subunit of the KATP channel, conferring predisposition to dramatic repolarization changes and ventricular vulnerability. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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37. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- Author
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Arking, Dan E., Pulit, Sara L., Crotti, Lia, van der Harst, Pim, Munroe, Patricia B., Koopmann, Tamara T., Sotoodehnia, Nona, 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., Kumar, Runjun D., Harris, Tamara B., Launer, Lenore J., Shuldiner, Alan R., Alonso, Alvaro, Bader, Joel S., Ehret, Georg, 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, Arnar, David O., Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C., Roden, Dan M., Zuvich, Rebecca L., Emilsson, Valur, Plump, Andrew S., Larson, Martin G., 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., Rossin, Elizabeth, Slowikowski, Kamil, Raychaudhuri, Soumya, Huang, Hailiang, Daly, Mark, O'Donnell, Christopher, and Newton-Cheh, Christopher
- Subjects
genome-wide association study ,QT interval ,Long QT Syndrome ,sudden cardiac death ,myocardial repolarization ,arrhythmias - Abstract
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal Mendelian Long QT Syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals we identified 35 common variant QT interval loci, that collectively explain ∼8-10% of QT variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 novel QT loci in 298 unrelated LQTS probands identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode for proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies novel candidate genes for ventricular arrhythmias, LQTS,and SCD., Version of Record
- Published
- 2014
- Full Text
- View/download PDF
38. Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
- Author
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Portero, Vincent, Le Scouarnec, Solena, Es ‐ Salah ‐ Lamoureux, Zeineb, Burel, Sophie, Gourraud, Jean ‐ Baptiste, Bonnaud, Stéphanie, Lindenbaum, Pierre, Simonet, Floriane, Violleau, Jade, Baron, Estelle, Moreau, Eléonore, Scott, Carol, Chatel, Stéphanie, Loussouarn, Gildas, O'Hara, Thomas, Mabo, Philippe, Dina, Christian, Le Marec, Hervé, Schott, Jean ‐ Jacques, and Probst, Vincent
- Published
- 2016
- Full Text
- View/download PDF
39. Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
- Author
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Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF, Haber M, Marshall G, Cairns MJ, Blay JY, Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Galligan E, Glavich G, Stoeckert J, Williams L, Djandjgava L, Buettner I, Osinki C, Stephens S, Rogasik M, Bouclier L, Girodet M, Charreton A, Fayet Y, Crasto S, Sandupatla B, Yoon Y, Je N, Thompson L, Fowler T, Johnson B, Petrikova G, Hambridge T, Hutchins A, Bottero D, Scanlon D, Stokes-Denson J, Génin E, Campion D, Dartigues JF, Deleuze JF, Lambert JC, Redon R, Ludwig T, Grenier-Boley B, Letort S, Lindenbaum P, Meyer V, Quenez O, Dina C, Bellenguez C, Le Clézio CC, Giemza J, Chatel S, Férec C, Le Marec H, Letenneur L, Nicolas G, and Rouault K
- Subjects
- Humans, Genetic Variation, Germ Cells, Melanoma genetics, Shelterin Complex genetics, Genetic Predisposition to Disease, Mitosis genetics, Sarcoma genetics, Telomere genetics, Germ-Line Mutation
- Abstract
Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls. Using an extreme phenotype design, a combined rare-variant burden and ontologic analysis identified two sarcoma-specific pathways involved in mitotic and telomere functions. Variants in centrosome genes are linked to malignant peripheral nerve sheath and gastrointestinal stromal tumors, whereas heritable defects in the shelterin complex link susceptibility to sarcoma, melanoma, and thyroid cancers. These studies indicate a specific role for heritable defects in mitotic and telomere biology in risk of sarcomas.
- Published
- 2023
- Full Text
- View/download PDF
40. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
- Author
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Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, and Redon R
- Subjects
- Alleles, Animals, Case-Control Studies, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 6, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mice, Mice, Knockout, Odds Ratio, Polymorphism, Single Nucleotide, Sodium Channels genetics, Sodium Channels metabolism, Basic Helix-Loop-Helix Transcription Factors genetics, Brugada Syndrome complications, Brugada Syndrome genetics, Death, Sudden, Cardiac etiology, Genetic Variation, NAV1.5 Voltage-Gated Sodium Channel genetics, NAV1.8 Voltage-Gated Sodium Channel genetics, Repressor Proteins genetics
- Abstract
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10(-68); rs9388451, P = 5.1 × 10(-17)) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10(-14)). The cumulative effect of the three loci on disease susceptibility was unexpectedly large (Ptrend = 6.1 × 10(-81)). The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia. The implication of association with HEY2, supported by new evidence that Hey2 regulates cardiac electrical activity, shows that Brugada syndrome may originate from altered transcriptional programming during cardiac development. Altogether, our findings indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.
- Published
- 2013
- Full Text
- View/download PDF
41. Risk Stratification and Therapeutic Approach in Brugada Syndrome.
- Author
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Probst V, Chatel S, Gourraud JB, and Marec HL
- Abstract
Brugada syndrome (BrS) is a clinical entity characterised by an incomplete right bundle branch block associated with an ST segment elevation in the right precordial leads and a risk of ventricular arrhythmia and sudden death in the absence of structural abnormalities. Patients with a personal history of sudden death have an annual arrhythmia risk of recurrence as high as 10 %. Similarly, the presence of syncope is consistently associated with an increased arrhythmic risk. This risk can be estimated at about 1.5 % per year. The risk is lower in asymptomatic patients. Regarding the relatively high rate of complication of Implantable cardioverter defibrillator (ICD) implantation, in most of the cases, asymptomatic patients with a Brugada syndrome revealed during ajmaline challenge do not need to be implanted. The situation is more complex in patients with a spontaneous type 1 aspect since the risk could be estimated to be around 0.8 % per year. For these patients, a careful evaluation of the arrhythmic risk using all the different tools available is mandatory.
- Published
- 2012
- Full Text
- View/download PDF
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