Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel by Liu, Hui, Chatel, Stéphanie, Simard, Christophe, Syam, Ninda, Salle, Laurent, Probst, Vincent, Morel, Julie, Millat, Gilles, Lopez, Michel, Abriel, Hugues, Schott, Jean-Jacques, Guinamard, Romain, Bouvagnet, Patrice

Get full text

Identification of Large Families in Early Repolarization Syndrome by Gourraud, Jean-Baptiste, MD, Le Scouarnec, Solena, PhD, Sacher, Frederic, MD, Chatel, Stéphanie, PhD, Derval, Nicolas, MD, Portero, Vincent, MS, Chavernac, Pascal, MD, Sandoval, Juan E., PhD, Mabo, Philippe, MD, PhD, Redon, Richard, PhD, Schott, Jean-Jacques, PhD, Le Marec, Hervé, MD, PhD, Haïssaguerre, Michel, MD, PhD, Probst, Vincent, MD, PhD

Get full text

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome by 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, Redon, Richard

Get full text

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation by Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël

Get full text

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel by 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, SCHOTT, JEAN JACQUES

Get full text

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block by Syam, Ninda, Chatel, Stéphanie, Ozhathil, Lijo Cherian, Sottas, Valentin, Rougier, Jean‐Sébastien, Baruteau, Alban, Baron, Estelle, Amarouch, Mohamed‐Yassine, Daumy, Xavier, Probst, Vincent, Schott, Jean‐Jacques, Abriel, Hugues

Get full text

Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome by 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, Probst, Vincent, Baró, Isabelle, Marionneau, Céline, Charpentier, Flavien, Redon, Richard

Get full text

Prevalence and Prognostic Role of Various Conduction Disturbances in Patients With the Brugada Syndrome by Maury, Philippe, MD, Rollin, Anne, MD, Sacher, Frédéric, MD, Gourraud, Jean-Baptiste, MD, Raczka, Franck, MD, Pasquié, Jean-Luc, MD, Duparc, Alexandre, MD, Mondoly, Pierre, MD, Cardin, Christelle, MD, Delay, Marc, MD, Derval, Nicolas, MD, Chatel, Stéphanie, PhD, Bongard, Vanina, MD, PhD, Sadron, Marie, MD, Denis, Arnaud, MD, Davy, Jean-Marc, MD, Hocini, Mélèze, MD, Jaïs, Pierre, MD, Jesel, Laurence, MD, Haïssaguerre, Michel, MD, Probst, Vincent, MD

Get full text

Human genetic structure in Northwest France provides new insights into West European historical demography by Alves, Isabel, Giemza, Joanna, Blum, Michael G. B., Bernhardsson, Carolina, Chatel, Stéphanie, Karakachoff, Matilde, Saint Pierre, Aude, Herzig, Anthony F., Olaso, Robert, Monteil, Martial, Gallien, Véronique, Cabot, Elodie, Svensson, Emma, Bacq, Delphine, Baron, Estelle, Berthelier, Charlotte, Besse, Céline, Blanché, Hélène, Bocher, Ozvan, Boland, Anne, Bonnaud, Stéphanie, Charpentier, Eric, Dandine-Roulland, Claire, Férec, Claude, Fruchet, Christine, Lecointe, Simon, Le Floch, Edith, Ludwig, Thomas E., Marenne, Gaëlle, Meyer, Vincent, Quellery, Elisabeth, Racimo, Fernando, Rouault, Karen, Sandron, Florian, Schott, Jean-Jacques, Velo-Suarez, Lourdes, Violleau, Jade, Willerslev, Eske, Coativy, Yves, Jézéquel, Mael, Le Bris, Daniel, Nicolas, Clément, Pailler, Yvan, Goldberg, Marcel, Zins, Marie, Le Marec, Hervé, Jakobsson, Mattias, Darlu, Pierre, Génin, Emmanuelle, Deleuze, Jean-François, Redon, Richard, Dina, Christian

Get full text

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm by Bourcier, Romain, 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, Isidor, Bertrand, Génin, Emmanuelle, Deleuze, Jean-François, Schott, Jean-Jacques, Le Marec, Hervé, Desal, Hubert, Bourcier, Romain, Isidor, Bertrand, Connault, Jérôme, 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, 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, Desal, Hubert, Redon, Richard

Get full text

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes by Yagihara, Nobue, Watanabe, Hiroshi, Barnett, Phil, Duboscq‐Bidot, Laetitia, Thomas, Atack C., Yang, Ping, Ohno, Seiko, Hasegawa, Kanae, Kuwano, Ryozo, Chatel, Stéphanie, Redon, Richard, Schott, Jean‐Jacques, Probst, Vincent, Koopmann, Tamara T., Bezzina, Connie R., Wilde, Arthur A. M., Nakano, Yukiko, Aiba, Takeshi, Miyamoto, Yoshihiro, Kamakura, Shiro, Darbar, Dawood, Donahue, Brian S., Shigemizu, Daichi, Tanaka, Toshihiro, Tsunoda, Tatsuhiko, Suda, Masayoshi, Sato, Akinori, Minamino, Tohru, Endo, Naoto, Shimizu, Wataru, Horie, Minoru, Roden, Dan M., Makita, Naomasa

Get full text

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy by 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, 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, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, Bonneau, Dominique

Get full text

Parental Electrocardiographic Screening Identifies a High Degree of Inheritance for Congenital and Childhood Nonimmune Isolated Atrioventricular Block by BARUTEAU, Alban-Elouen, BEHAGHEL, Albin, GOURNAY, Veronique, ROUAULT, Francis, CHANTEPIE, Alain, GUILLAUMONT, Sophie, GODART, François, MARTINS, Raphael P, DELASALLE, Beatrice, BONNET, Caroline, FRAISSE, Alain, SCHLEICH, Jean-Marc, FOUCHARD, Swanny, LUSSON, Jean-Rene, DULAC, Yves, DAUBERT, Jean-Claude, LE MAREC, Herve, PROBST, Vincent, MABO, Philippe, SCHOTT, Jean-Jacques, DINA, Christian, CHATEL, Stephanie, VILLAIN, Elisabeth, THAMBO, Jean-Benoit, MARCON, François

Get full text

Heritable defects in telomere and mitotic function selectively predispose to sarcomas by Ballinger, Mandy L, Pattnaik, Swetansu, Mundra, Piyushkumar A, Zaheed, Milita, Rath, Emma, Priestley, Peter, Baber, Jonathan, Ray-Coquard, Isabelle, Isambert, Nicholas, Causeret, Sylvain, van der Graaf, Winette T A, Puri, Ajay, Duffaud, Florence, Le Cesne, Axel, Seddon, Beatrice, Chandrasekar, Coonoor, Schiffman, Joshua D, Brohl, Andrew S, James, Paul A, Kurtz, Jean-Emmanuel, Penel, Nicolas, Myklebost, Ola, Meza-Zepeda, Leonardo A, Pickett, Hilda, Kansara, Maya, Waddell, Nicola, Kondrashova, Olga, Pearson, John V, Barbour, Andrew P, Li, Shuai, Nguyen, Tuong L, Fatkin, Diane, Graham, Robert M, Giannoulatou, Eleni, Green, Melissa J, Kaplan, Warren, Ravishankar, Shyamsundar, Copty, Joseph, Powell, Joseph E, Cuppen, Edwin, van Eijk, Kristel, Veldink, Jan, Ahn, Jin-Hee, Kim, Jeong Eun, Randall, R Lor, Tucker, Kathy, Judson, Ian, Sarin, Rajiv, Ludwig, Thomas, Genin, Emmanuelle, Deleuze, Jean-Francois, Haber, Michelle, Marshall, Glenn, Cairns, Murray J, Blay, Jean-Yves, Thomas, David M, Tattersall, Martin, Neuhaus, Susan, Lewis, Craig, Tucker, Kathy, Carey-Smith, Richard, Wood, David, Porceddu, Sandro, Dickinson, Ian, Thorne, Heather, James, Paul, Ray-Coquard, Isabelle, Blay, Jean-Yves, Cassier, Philippe, Le Cesne, Axel, Duffaud, Florence, Penel, Nicolas, Isambert, Nicolas, Kurtz, Jean-Emmanuel, Puri, Ajay, Sarin, Rajiv, Ahn, Jin-Hee, Kim, Jeong Eun, Ward, Iain, Judson, Ian, van der Graaf, Winette, Seddon, Beatrice, Chandrasekar, Coonoor, Rickar, Rory, Hennig, Ivo, Schiffman, Joshua, Randall, R Lor, Silvestri, Audrey, Zaratzian, Anaiis, Tayao, Michael, Walwyn, Kelly, Niedermayr, Eveline, Mang, Denia, Clark, Richard, Thorpe, Tina, MacDonald, Jessica, Riddell, Kim, Mar, Jasmine, Fennelly, Vicki, Wicht, Allison

Get full text

Risk Stratification and Therapeutic Approach in Brugada Syndrome by Probst, Vincent, Chatel, Stéphanie, Gourraud, Jean-Baptiste, Marec, Hervé Le

Get full text

Human genetic structure in Northwest France provides new insights into West European historical demography by Alves, Isabel, Giemza, Joanna, Blum, Michael, Bernhardsson, Carolina, Chatel, Stéphanie, Karakachoff, Matilde, Saint Pierre, Aude, Herzig, Anthony, Olaso, Robert, Monteil, Martial, Gallien, Véronique, Cabot, Elodie, Svensson, Emma, Bacq, Delphine, Baron, Estelle, Berthelier, Charlotte, Besse, Céline, Blanché, Hélène, Bocher, Ozvan, Boland, Anne, Bonnaud, Stéphanie, Charpentier, Eric, Dandine-Roulland, Claire, Férec, Claude, Fruchet, Christine, Lecointe, Simon, Le Floch, Edith, Ludwig, Thomas, Marenne, Gaëlle, Meyer, Vincent, Quellery, Elisabeth, Racimo, Fernando, Rouault, Karen, Sandron, Florian, Schott, Jean-Jacques, Velo-Suarez, Lourdes, Violleau, Jade, Willerslev, Eske, Coativy, Yves, Jézéquel, Mael, Le Bris, Daniel, Nicolas, Clément, Pailler, Yvan, Goldberg, Marcel, Zins, Marie, Le Marec, Hervé, Jakobsson, Mattias, Darlu, Pierre, Génin, Emmanuelle, Deleuze, Jean-François, Redon, Richard, Dina, Christian

Get full text

Human genetic structure in Northwest France provides new insights into West European historical demography by Alves, Isabel, Giemza, Joanna, Blum, Michael, Bernhardsson, Carolina, Chatel, Stéphanie, Karakachoff, Matilde, Saint Pierre, Aude, Herzig, Anthony, Olaso, Robert, Monteil, Martial, Gallien, Véronique, Cabot, Elodie, Svensson, Emma, Bacq, Delphine, Baron, Estelle, Berthelier, Charlotte, Besse, Céline, Blanché, Hélène, Bocher, Ozvan, Boland, Anne, Bonnaud, Stéphanie, Charpentier, Eric, Dandine-Roulland, Claire, Férec, Claude, Fruchet, Christine, Lecointe, Simon, Le Floch, Edith, Ludwig, Thomas, Marenne, Gaëlle, Meyer, Vincent, Quellery, Elisabeth, Racimo, Fernando, Rouault, Karen, Sandron, Florian, Schott, Jean-Jacques, Velo-Suarez, Lourdes, Violleau, Jade, Willerslev, Eske, Coativy, Yves, Jézéquel, Mael, Le Bris, Daniel, Nicolas, Clément, Pailler, Yvan, Goldberg, Marcel, Zins, Marie, Le Marec, Hervé, Jakobsson, Mattias, Darlu, Pierre, Génin, Emmanuelle, Deleuze, Jean-François, Redon, Richard, Dina, Christian

Get full text

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly by Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, 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

Get full text

How local reference panels improve imputation in French populations by Herzig, Anthony F., Velo‐Suárez, Lourdes, Dina, Christian, Redon, Richard, Deleuze, Jean-François, Génin, Emmanuelle

Get full text

Moment estimators of relatedness from low-depth whole-genome sequencing data by Herzig, Anthony F, Ciullo, M, 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, Boland, Anne, Lindenbaum, Pierre, Ludwig, Thomas, Meyer, Vincent, Olaso, Robert, Velo-Suárez, Lourdes, Alves, Isabel, Bocher, Ozvan, Dina, Christian, Karakachoff, Matilde, Marenne, Gaëlle, Pierre, Aude Saint

Get full text