Publications HAL des membres

Jean-Jacques Schott

      2020

    • [1] Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
      Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter Postema, Ahmad Amin, Eline Nannenberg, James Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt Beckmann, Stéphane Bézieau, J Martijn Bos, Jeroen Breckpot, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart Loeys, Catarina Lundin, Takeru Makiyama, Jacques Mansourati, Raphaël Martins, Andrea Mazzanti, Stellan Mörner, Carlo Napolitano, Kimie Ohkubo, Michael Papadakis, Boris Rudic, Maria Sabater Molina, Frédéric Sacher, Hatice Sahin, Georgia Sarquella-Brugada, Regina Sebastiano, Sanjay Sharma, Mary Sheppard, Keiko Shimamoto, M Benjamin Shoemaker, Birgit Stallmeyer, Johannes Steinfurt, Yuji Tanaka, David Tester, Keisuke Usuda, Paul van der Zwaag, Sonia van Dooren, Lut van Laer, Annika Winbo, Bo Winkel, Kenichiro Yamagata, Sven Zumhagen, Paul Volders, Steven Lubitz, Charles Antzelevitch, Pyotr Platonov, Katja Odening, Dan Roden, Jason Roberts, Jonathan Skinner, Jacob Tfelt-Hansen, Maarten van den Berg, Morten Olesen, Pier Lambiase, Martin Borggrefe, Kenshi Hayashi, Annika Rydberg, Tadashi Nakajima, Masao Yoshinaga, Johan Saenen, Stefan Kääb, Pedro Brugada, Tomas Robyns, Daniela Giachino, Michael Ackerman, Ramon Brugada, Josep Brugada, Juan Gimeno, Can Hasdemir, Pascale Guicheney, Silvia Priori, Eric Schulze-Bahr, Naomasa Makita, Peter Schwartz, Wataru Shimizu, Takeshi Aiba, Jean-Jacques Schott, Richard Redon, Seiko Ohno, Vincent Probst, Elijah Behr, Julien Barc, Connie Bezzina.
      https://hal.sorbonne-universite.fr/hal-02946962
    • [2] Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
      Najim Lahrouchi, Rafik Tadros, Lia Crotti, Yuka Mizusawa, Pieter Postema, Leander Beekman, Roddy Walsh, Kanae Hasegawa, Julien Barc, Marko Ernsting, Kari Turkowski, Andrea Mazzanti, Britt Beckmann, Keiko Shimamoto, Ulla-Britt Diamant, Yanushi Wijeyeratne, Yu Kucho, Tomas Robyns, Taisuke Ishikawa, Elena Arbelo, Michael Christiansen, Annika Winbo, Reza Jabbari, Steven Lubitz, Johannes Steinfurt, Boris Rudic, Bart Loeys, M Ben Shoemaker, Peter Weeke, Ryan Pfeiffer, Brianna Davies, Antoine Andorin, Nynke Hofman, Federica Dagradi, Matteo Pedrazzini, David Tester, J Martijn Bos, Georgia Sarquella-Brugada, Óscar Campuzano, Pyotr Platonov, Birgit Stallmeyer, Sven Zumhagen, Eline Nannenberg, Jan Veldink, Leonard van den Berg, Ammar Al-Chalabi, Christopher Shaw, Pamela Shaw, Karen Morrison, Peter Andersen, Martina Müller-Nurasyid, Daniele Cusi, Cristina Barlassina, Pilar Galan, Mark Lathrop, Markus Munter, Thomas Werge, Marta Ribasés, Tin Aung, Chiea Khor, Mineo Ozaki, Peter Lichtner, Thomas Meitinger, J Peter van Tintelen, Yvonne Hoedemaekers, Isabelle Denjoy, Antoine Leenhardt, Carlo Napolitano, Wataru Shimizu, Jean-Jacques Schott, Jean-Baptiste Gourraud, Takeru Makiyama, Seiko Ohno, Hideki Itoh, Andrew Krahn, Charles Antzelevitch, Dan Roden, Johan Saenen, Martin Borggrefe, Katja Odening, Patrick Ellinor, Jacob Tfelt-Hansen, Jonathan Skinner, Maarten van den Berg, Morten Salling Olesen, Josep Brugada, Ramón Brugada, Naomasa Makita, Jeroen Breckpot, Masao Yoshinaga, Elijah Behr, Annika Rydberg, Takeshi Aiba, Stefan Kääb, Silvia Priori, Pascale Guicheney, Hanno Tan, Christopher Newton-Cheh, Michael Ackerman, Peter Schwartz, Eric Schulze-Bahr, Vincent Probst, Minoru Horie, Arthur Wilde, Michael W.T. Tanck, Connie Bezzina.
      https://hal.sorbonne-universite.fr/hal-02946905

      2019

    • [3] Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis
      Sébastien Thériault, Christian Dina, David Messika-Zeitoun, Solena Le Scouarnec, Romain Capoulade, Nathalie Gaudreault, Sidwell Rigade, Zhonglin Li, Floriane Simonet, Maxime Lamontagne, Marie-Annick Clavel, Benoit Arsenault, Anne-Sophie Boureau, Simon Lecointe, Estelle Baron, Stéphanie Bonnaud, Matilde Karakachoff, Eric Charpentier, Imen Fellah, Jean-Christian Roussel, Jean Philippe Verhoye, Christophe Baufreton, Vincent Probst, Ronan Roussel, Richard Redon, François Dagenais, Philippe Pibarot, Patrick Mathieu, Thierry Le Tourneau, Yohan Bossé, Jean-Jacques Schott.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-02355156
    • [4] RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome
      Nadjet Belbachir, Vincent Portero, Zeina Al Sayed, Jean-Baptiste Gourraud, Florian Dilasser, Laurence Jesel, Hongchao Guo, Haodi Wu, Nathalie Gaborit, Christophe Guilluy, Aurore Girardeau, Stephanie Bonnaud, Florian Simonet, Matilde Karakachoff, Sabine Pattier, Carol Scott, Sophie Burel, Celine Marionneau, Carol Chariau, Anne Gaignerie, Laurent David, Emmanuelle Génin, Jean-François Deleuze, Christian Dina, Vincent Sauzeau, Gervaise Loirand, Isabelle Baró, Jean-Jacques Schott, Vincent Probst, Joseph Wu, Richard Redon, Flavien Charpentier, Solena Le Scouarnec.
      https://www.hal.inserm.fr/inserm-02158572

      2018

    • [5] Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death
      Michel Haïssaguerre, Mélèze Hocini, Ghassen Cheniti, Josselin Duchateau, Fréderic Sacher, Stéphane Puyo, Hubert Cochet, Masateru Takigawa, Arnaud Denis, Ruairidh Martin, Nicolas Derval, Pierre Bordachar, Philippe Ritter, Sylvain Ploux, Thomas Pambrun, Nicolas Klotz, Grégoire Massoullié, Xavier Pillois, Corentin Dallet, Jean-Jacques Schott, Solena Le Scouarnec, Michael Ackerman, David Tester, Olivier Piot, Jean-Luc Pasquié, Christophe Leclerc, Jean-Sylvain Hermida, Estelle Gandjbakhch, Philippe Maury, Louis Labrousse, Ruben Coronel, Pierre Jaïs, David Benoist, Edward J. Vigmond, Mark Potse, Richard D. Walton, Koonlawee Nademanee, Olivier Bernus, Rémi Dubois.
      https://hal.umontpellier.fr/hal-01839275
    • [6] Genetics of syndromic and non-syndromic mitral valve prolapse
      Thierry Le Tourneau, Jean Merot, Antoine Rimbert, Solena Le Scouarnec, Vincent Probst, Hervé Le Marec, Robert Levine, Jean-Jacques Schott.
      https://hal.archives-ouvertes.fr/hal-02970792
    • [7] New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study
      Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan Aalberts, Simon Lecointe, Jean Merot, Jonathan Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca Delling, Romain Capoulade, Albert Suurmeijer, David Milan, Russell Norris, Roger Markwald, Elena Aikawa, Susan Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noel Trochu, Robert Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott.
      https://hal.archives-ouvertes.fr/hal-02332296
    • [8] Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome
      Pauline Etienne, François Huchet, Nathalie Gaborit, Julien Barc, Aurélie Thollet, Florence Kyndt, Béatrice Guyomarch, Hervé Le Marec, Flavien Charpentier, Jean-Jacques Schott, Richard Redon, Vincent Probst, Jean-Baptiste Gourraud.
      https://hal.archives-ouvertes.fr/hal-01833912
    • [9] New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study
      Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J. J. Aalberts, Simon Lecointe, Jean Mérot, Jonathan A. Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N. Delling, Romain Capoulade, Albert J. H. Suurmeijer, David Milan, Russell A. Norris, Roger Markwald, Elena Aikawa, Susan A. Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A. Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott.
      https://hal.archives-ouvertes.fr/hal-01833318
    • [10] Genetics of syndromic and non-syndromic mitral valve prolapse
      Thierry Le Tourneau, Jean Mérot, Antoine Rimbert, Solena Le Scouarnec, Vincent Probst, Hervé Le Marec, Robert A. Levine, Jean-Jacques Schott.
      https://hal.archives-ouvertes.fr/hal-01833921
    • [11] Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
      Romain Bourcier, Solena Le Scouarnec, Stephanie Bonnaud, Matilde Karakachoff, Emmanuelle Bourcereau, Sandrine Heurtebise-Chrétien, Céline Menguy, Christian Dina, Floriane Simonet, Alexis Moles, Cédric Lenoble, Pierre Lindenbaum, Stéphanie Chatel, Bertrand Isidor, Emmanuel Génin, Jean-François Deleuze, Jean-Jacques Schott, Hervé Le Marec, Gervaise Loirand, Hubert Desal, Richard Redon, Benjamin Daumas-Duport, Jérôme Connault, Pierre Lebranchu, Thierry Le Tourneau, Pierre Viarouge, Chrisanthi Papagiannaki, Michel Piotin, Hocine Redjem, Mikael Mazighi, Jean-Philippe Desilles, Olivier Naggara, Denis Trystram, Myriam Edjlali-Goujon, Christine Rodriguez, Waghi Ben Hassen, Suzanna Saleme, Charbel Mounayer, Olivier Levrier, Pierre Aguettaz, Xavier Combaz, Anne Pasco, Emeline Berthier, Marc Bintner, Marc Molho, Pascale Gauthier, Cyril Chivot, Vincent Costalat, Cyril Darganzil, Alain Bonafé, Anne Christine Januel, Caterina Michelozzi, Christophe Cognard, Fabrice Bonneville, Philippe Tall, Jean Darcourt, Alessandra Biondi, Cristina Iosif, Elisa Pomero, Jean-Christophe Ferre, Jean Yves Gauvrit, François Eugène, Hélène Raoult, Jean-Christophe Gentric, Julien Ognard, René Anxionnat, Serge Bracard, Anne Laure Derelle, Romain Tonnelet, Laurent Spelle, Léon Ikka, Robert Fahed, Aymeric Rouchaud, Augustin Ozanne, Jildaz Caroff, Nidal Ben Achour, Jacques Moret, Emmanuel Chabert, Jérôme Berge, Gaultier Marnat, Xavier Barreau, Florent Gariel, Frédéric Clarençon, Mohammed Aggour, Fréderic Ricolfi, Adrien Chavent, Pierre Thouant, Pablo Lebidinsky, Brivael Lemogne, Denis Herbreteau, Richard Bibi, Laurent Pierot, Sébastien Soize, Marc Antoine Labeyrie, Christophe Vandendries, Emmanuel Houdart, Appoline Kazemi, Xavier Leclerc, Jean Pierre Pruvo, Sophie Gallas, Stéphane Velasco.
      https://hal.archives-ouvertes.fr/hal-01808225

      2017

    • [12] Clinical Yield of Familial Screening After Sudden Death in Young Subjects
      Pauline Quenin, Florence Kyndt, Philippe Mabo, Jacques Mansourati, Dominique Babuty, Aurélie Thollet, Beatrice Guyomarch, Richard Redon, Julien Barc, Jean-Jacques Schott, Frédéric Sacher, Vincent Probst, Jean Baptiste Gourraud.
      https://www.hal.inserm.fr/inserm-01667200
    • [13] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation
      Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita.
      https://hal.archives-ouvertes.fr/hal-01832148
    • [14] TRPM4 non-selective cation channel variants in long QT syndrome
      Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet.
      https://hal.archives-ouvertes.fr/hal-01832144

      2016

    • [15] Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
      Nobue Yagihara, Hiroshi Watanabe, Phil Barnett, Laetitia Duboscq-Bidot, Atack C. Thomas, Ping Yang, Seiko Ohno, Kanae Hasegawa, Ryozo Kuwano, Stéphanie Chatel, Richard Redon, Jean-Jacques Schott, Vincent Probst, Tamara T. Koopmann, Connie R. Bezzina, Arthur A. M. Wilde, Yukiko Nakano, Takeshi Aiba, Yoshihiro Miyamoto, Shiro Kamakura, Dawood Darbar, Brian S. Donahue, Daichi Shigemizu, Toshihiro Tanaka, Tatsuhiko Tsunoda, Masayoshi Suda, Akinori Sato, Tohru Minamino, Naoto Endo, Wataru Shimizu, Minoru Horie, Dan M. Roden, Naomasa Makita.
      https://hal.archives-ouvertes.fr/hal-01831755
    • [16] Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
      Antoine Rimbert, Matthieu Pichelin, Simon Lecointe, Marie Marrec, Solena Le Scouarnec, Elias Barrak, Mikael Croyal, Michel Krempf, Hervé Le Marec, Richard Redon, Jean-Jacques Schott, Jocelyne Magré, Bertrand Cariou.
      https://hal.archives-ouvertes.fr/hal-01831745
    • [17] The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance
      Jean-Baptiste Gourraud, Julien Barc, Aurélie Thollet, Solena Le Scouarnec, Hervé Le Marec, Jean-Jacques Schott, Richard Redon, Vincent Probst.
      https://hal.archives-ouvertes.fr/hal-01831587
    • [18] Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I
      Xavier Daumy, Mohamed-Yassine Amarouch, Pierre Lindenbaum, Stéphanie Bonnaud, Eric Charpentier, Beatrice Bianchi, Sabine Nafzger, Estelle Baron, Swanny Fouchard, Aurélie Thollet, Florence Kyndt, Julien Barc, Solena Le Scouarnec, Naomasa Makita, Hervé Le Marec, Christian Dina, Jean-Baptiste Gourraud, Vincent Probst, Hugues Abriel, Richard Redon, Jean-Jacques Schott.
      https://hal.archives-ouvertes.fr/hal-01831586
    • [19] Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta
      Marta Sanchez-Castro, Hadja Eldjouzi, Eric Charpentier, Pierre-François Busson, Quentin Hauet, Pierre Lindenbaum, Béatrice Delasalle-Guyomarch, Adrien Baudry, Olivier Pichon, Cécile Pascal, Bruno Lefort, Fanny Bajolle, Philippe Pezard, Jean-Jacques Schott, Christian Dina, Richard Redon, Véronique Gournay, Damien Bonnet, Cédric Le Caignec.
      https://hal.archives-ouvertes.fr/hal-01831746
    • [20] Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block
      Ninda Syam, Stephanie Chatel, Lijo Cherian Ozhathil, Valentin Sottas, Jean-Sébastien Rougier, Alban Baruteau, Estelle Baron, Mohamed-Yassine Amarouch, Xavier Daumy, Vincent Probst, Jean-Jacques Schott, Hugues Abriel.
      https://hal.archives-ouvertes.fr/hal-01831595
    • [21] Dysfunction of the Voltage-Gated K+ Channel beta 2 Subunit in a Familial Case of Brugada Syndrome
      Vincent Portero, Solena Le Scouarnec, Zeineb Es-Salah-Lamoureux, Sophie Burel, Jean-Baptiste Gourraud, Stephanie Bonnaud, Pierre Lindenbaum, Floriane Simonet, Jade Violleau, Estelle Baron, Eleonore Moreau, Carol Scott, Stephanie Chatel, Gildas Loussouarn, Thomas O'Hara, Philippe Mabo, Christian Dina, Herve Le Marec, Jean-Jacques Schott, Vincent Probst, Isabelle Baró, Céline Marionneau, Flavien Charpentier, Richard Redon.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01414464

      2015

    • [22] Mitral valve disease−morphology and mechanisms
      Robert A. Levine, Albert A. Hagége, Daniel P. Judge, Muralidhar Padala, Jacob P. Dal-Bianco, Elena Aikawa, Jonathan Beaudoin, Joyce Bischoff, Nabila Bouatia-Naji, Patrick Bruneval, Jonathan T. Butcher, Alain Carpentier, Miguel Chaput, Adrian H. Chester, Catherine Clusel, Francesca N. Delling, Harry C. Dietz, Christian Dina, Ronen Durst, Leticia Fernandez-Friera, Mark D. Handschumacher, Morten O. Jensen, Xavier P. Jeunemaitre, Hervé Le Marec, Thierry Le Tourneau, Roger R. Markwald, Jean Mérot, Emmanuel Messas, David P. Milan, Tui Neri, Russell A. Norris, David Peal, Maelle Perrocheau, Vincent Probst, Michael Pucéat, Nadia Rosenthal, Jorge Solis, Jean-Jacques Schott, Ehud Schwammenthal, Susan A. Slaugenhaupt, Jae-Kwan Song, Magdi H. Yacoub.
      https://hal.archives-ouvertes.fr/hal-01830969
    • [23] Mutations in DCHS1 cause mitral valve prolapse
      Ronen Durst, Kimberly Sauls, David S. Peal, Annemarieke Devlaming, Katelynn Toomer, Maire Leyne, Monica Salani, Michael E. Talkowski, Harrison Brand, Maëlle Perrocheau, Charles Simpson, Christopher Jett, Matthew R. Stone, Florie Charles, Colby Chiang, Stacey N. Lynch, Nabila Bouatia-Naji, Francesca N. Delling, Lisa A. Freed, Christophe Tribouilloy, Thierry Le Tourneau, Hervé Le Marec, Leticia Fernandez-Friera, Jorge Solis, Daniel Trujillano, Stephan Ossowski, Xavier Estivill, Christian Dina, Patrick Bruneval, Adrian Chester, Jean-Jacques Schott, Kenneth D. Irvine, Yaopan Mao, Andy Wessels, Tahirali Motiwala, Michel Puceat, Yoshikazu Tsukasaki, Donald R. Menick, Harinath Kasiganesan, Xingju Nie, Anne-Marie Broome, Katherine Williams, Amanda Johnson, Roger R. Markwald, Xavier Jeunemaitre, Albert Hagège, Robert A. Levine, David J. Milan, Russell A. Norris, Susan A. Slaugenhaupt.
      https://hal.archives-ouvertes.fr/hal-01830584
    • [24] MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions
      Damien Duval, Pauline Labbé, Léa Bureau, Thierry Le Tourneau, Russell A. Norris, Roger R. Markwald, Robert Levine, Jean-Jacques Schott, Jean Mérot.
      https://hal.archives-ouvertes.fr/hal-01830581
    • [25] Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2
      Iris C. R. M. Kolder, Michael W. T. Tanck, Pieter G. Postema, Julien Barc, Moritz F. Sinner, Sven Zumhagen, Anja Husemann, Birgit Stallmeyer, Tamara T. Koopmann, Nynke Hofman, Arne Pfeufer, Peter Lichtner, Thomas Meitinger, Britt M. Beckmann, Robert J. Myerburg, Nanette H. Bishopric, Dan M. Roden, Stefan Kääb, Arthur A. M. Wilde, Jean-Jacques Schott, Eric Schulze-Bahr*, Connie R. Bezzina*.
      https://hal.archives-ouvertes.fr/hal-01830596
    • [26] A Statistical Association Test for the Identification of Clustered Disease Risk Variants
      Elodie Persyn, Matilde Karakachoff, Floriane Simonet, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina.
      https://hal.archives-ouvertes.fr/hal-01222285
    • [27] 0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC
      Nelly Amara, Jean-Baptiste Gourraud, Arnaud Denis, Philippe Mabo, Aurélie Thollet, Florence Kyndt, Julien Barc, Jean-Jacques Schott, Hervé Le Marec, Richard Redon, Vincent Probst.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01150489
    • [28] 0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients
      Aurélie Thollet, Philippe Mabo, Dominique Babuty, Jacques Mansourati, Jean-Marc Davy, Bertrand Petit, Stéphane Bézieau, Frederic Sacher, Solena Le Scouarnec, Jean-Jacques Schott, Hervé Le Marec, Vincent Probst, Jean-Baptiste Gourraud, Florence Kyndt.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01150487
    • [29] 0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death
      Vincent Probst, Solena Le Scouarnec, Florence Kyndt, Jean-Jacques Schott, Jean-Baptiste Gourraud, Frederic Sacher, Philippe Mabo, Matilde Karakachoff, Stéphanie Bonnaud, Jade Violleau, Eloi Marijon, Florence Dumas, Alain Cariou, Estelle Baron, Pierre Lindenbaum, Xavier Jouven, Richard Redon.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01150486
    • [30] Genetic association analyses highlight biological pathways underlying mitral valve prolapse
      Christian Dina, Nabila Bouatia-Naji, Nathan Tucker, Francesca N. Delling, Katelynn Toomer, Ronen Durst, Maelle Perrocheau, Leticia Fernandez-Friera, Jorge Solis, Thierry Le Tourneau, Ming-Huei Chen, Vincent Probst, Yohan Bosse, Philippe Pibarot, Diana Zelenika, Mark Lathrop, Serge Hercberg, Ronan Roussel, Emelia J. Benjamin, Fabrice Bonnet, Su Hao Lo, Elena Dolmatova, Floriane Simonet, Simon Lecointe, Florence Kyndt, Richard Redon, Hervé Le Marec, Philippe Froguel, Patrick T. Ellinor, Ramachandran S. Vasan, Patrick Bruneval, Roger R. Markwald, Russell A. Norris, David J. Milan, Susan A. Slaugenhaupt, Robert A. Levine, Jean-Jacques Schott, Albert A. Hagege, Xavier Jeunemaitre.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01191656
    • [31] Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
      Solena Le Scouarnec, Matilde Karakachoff, Jean-Baptiste Gourraud, Pierre Lindenbaum, Stéphanie Bonnaud, Vincent Portero, Laetitia Duboscq-Bidot, Xavier Daumy, Floriane Simonet, Raluca Teusan, Estelle Baron, Jade Violleau, Elodie Persyn, Lise Bellanger, Julien Barc, Stéphanie Chatel, Raphael Martins, Philippe Mabo, Frederic Sacher, Michel Haïssaguerre, Florence Kyndt, Sébastien Schmitt, Stéphane Bézieau, Hervé Le Marec, Christian Dina, Jean-Jacques Schott, Vincent Probst, Richard Redon.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01201946

      2014

    • [32] Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests
      Lise Bellanger, Elodie Persyn, Floriane Simonet, Richard Redon, Jean-Jacques Schott, Solena Le Scouarnec, Matilde Karakachoff, Christian Dina.
      https://hal.archives-ouvertes.fr/hal-01037977
    • [33] Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests
      Lise Bellanger, Elodie Persyn, Floriane Simonet, Richard Redon, Jean-Jacques Schott, Solena Le Scouarnec, Matilde Karakachoff, Christian Dina.
      https://hal.archives-ouvertes.fr/hal-01160576
    • [34] Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss of function mutation.
      Thomas Pambrun, Aurélie Mercier, Aurélien Chatelier, Sylvie Patri, Jean-Jacques Schott, Solena Le Scouarnec, Mohamed Chahine, Bruno Degand, Patrick Bois.
      https://hal.archives-ouvertes.fr/hal-00992887

      2013

    • [35] Identification of Large Families in Early Repolarization Syndrome.
      Jean-Baptiste Gourraud, Solena Le Scouarnec, Frederic Sacher, Stéphanie Chatel, Nicolas Derval, Vincent Portero, Pascal Chavernac, Juan E Sandoval, Philippe Mabo, Richard Redon, Jean-Jacques Schott, Hervé Le Marec, Michel Haïssaguerre, Vincent Probst.
      https://hal.archives-ouvertes.fr/hal-00879642

      2012

    • [36] Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
      Alban-Elouen Baruteau, Albin Behaghel, Swanny Fouchard, Philippe Mabo, Jean-Jacques Schott, Christian Dina, Stéphanie Chatel, Elisabeth Villain, Jean-Benoit Thambo, François Marçon, Véronique Gournay, Francis Rouault, Alain Chantepie, Sophie Guillaumont, François Godart, Raphaël P Martins, Béatrice Delasalle, Caroline Bonnet, Alain Fraisse, Jean-Marc Schleich, Jean-René Lusson, Yves Dulac, Jean-Claude Daubert, Hervé Le Marec, Vincent Probst.
      https://hal.archives-ouvertes.fr/hal-00880957
    • [37] Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach
      Jean-Baptiste Gourraud, Florence Kyndt, Swanny Fouchard, Eric Rendu, Philippe Jaafar, Claude Gully, Karim Gacem, Jean-Marc Dupuis, Aurelie Longueville, Estelle Baron, Matilde Karakachoff, Jean Cebron, Stéphanie Chatel, Jean-Jacques Schott, Hervé Le Marec, Vincent Probst.
      https://www.hal.inserm.fr/inserm-01667205
    • [38] Multifocal Ectopic Purkinje-Related Premature Contractions: A New SCN5A-Related Cardiac Channelopathy.
      Gabriel Laurent, Samuel Saal, Mohamed Yassine Amarouch, Delphine Béziau, Roos Marsman, Laurence Faivre, Julien Barc, Christian Dina, Geraldine Bertaux, Olivier Barthez, Christel Thauvin-Robinet, Philippe Charron, Véronique Fressart, Alice Maltret, Elisabeth Villain, Estelle Baron, Jean Mérot, Rodolphe Turpault, Yves Coudière, Flavien Charpentier, Jean-Jacques Schott, Gildas Loussouarn, Arthur Wilde, Jean-Eric Wolf, Isabelle Baró, Florence Kyndt, Vincent Probst.
      https://www.hal.inserm.fr/inserm-00719034
    • [39] KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
      Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stephanie Miserey-Lenkei, Nabila Bouatia-Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian, Emmanuelle Vidal-Petiot, Christelle Soukaseum, Chantal Mandet, Françoise Broux, Olivier Chabre, Michel Delahousse, Vincent Esnault, Béatrice Fiquet, Pascal Houillier, Corinne Isnard Bagnis, Jens Koenig, Martin Konrad, Paul Landais, Chebel Mourani, Patrick Niaudet, Vincent Probst, Christel Thauvin, Robert Unwin, Steven Soroka, Georg Ehret, Stephan Ossowski, Mark Caulfield, Patrick Bruneval, Xavier Estivill, Philippe Froguel, Juliette Hadchouel, Jean-Jacques Schott, Xavier Jeunemaitre.
      https://hal.archives-ouvertes.fr/hal-02349651
    • [40] Characteristics and long-term outcome of non-immune isolated atrioventricular block diagnosed in utero or early childhood: a multicentre study.
      Alban-Elouen Baruteau, Swanny Fouchard, Albin Behaghel, Philippe Mabo, Elisabeth Villain, Jean-Benoit Thambo, François Marçon, Véronique Gournay, Francis Rouault, Alain Chantepie, Sophie Guillaumont, François Godart, Caroline Bonnet, Alain Fraisse, Jean-Marc Schleich, Jean-René Lusson, Yves Dulac, Christophe Leclercq, Jean-Claude Daubert, Jean-Jacques Schott, Hervé Le Marec, Vincent Probst.
      https://hal.archives-ouvertes.fr/hal-00880999

      2010

    • [41] Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model
      A. L. Leoni, B. Gavillet, J. S. Rougier, Céline Marionneau, Vincent Probst, Solena Le Scouarnec, Jean-Jacques Schott, S. Demolombe, P. Bruneval, C. L. Huang, W. H. Colledge, A. A. Grace, H. Le Marec, A. A. Wilde, P. J. Mohler, D. Escande, H. Abriel, Flavien Charpentier.
      https://hal.archives-ouvertes.fr/hal-02363778

      2009

    • [42] SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
      Vincent Probst, Arthur a M Wilde, Julien Barc, Frederic Sacher, Dominique Babuty, Philippe Mabo, Jacques Mansourati, Solena Le Scouarnec, Florence Kyndt, Cedric Le Caignec, Pascale Guicheney, Laetitia Gouas, Juliette Albuisson, Paola G Meregalli, Hervé Le Marec, Hanno L Tan, Jean-Jacques Schott.
      https://hal.univ-brest.fr/hal-00750425
    • [43] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
      Paola G Meregalli, Hanno L Tan, Vincent Probst, Tamara T Koopmann, Michael W Tanck, Zahurul A Bhuiyan, Frederic Sacher, Florence Kyndt, Jean-Jacques Schott, J. Albuisson, Philippe Mabo, Connie R Bezzina, Herve Le Marec, Arthur a M Wilde.
      https://hal.archives-ouvertes.fr/hal-00913229

      2008

    • [44] Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease
      Solena Le Scouarnec, N. Bhasin, C. Vieyres, T. J. Hund, S. R. Cunha, O. Koval, Céline Marionneau, B. Chen, Y. Wu, S. Demolombe, L. S. Song, Hervé Le Marec, V. Probst, Jean-Jacques Schott, M. E. Anderson, P. J. Mohler.
      https://hal.archives-ouvertes.fr/hal-02363777

      2007

    • [45] Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
      Philippe Chevalier, Chloé Bellocq, Gilles Millat, Eric Piqueras, Franck Potet, Jean-Jacques Schott, Isabelle Baró, Hervé Lemarec, Jacques Barhanin, Robert Rousson, Claire Rodriguez-Lafrasse.
      https://hal.archives-ouvertes.fr/hal-00171501

      2006

    • [46] Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
      Vincent Probst, Marie Allouis, Frederic Sacher, Sabine Pattier, Dominique Babuty, Philipe Mabo, Jacques Mansourati, Jacques Victor, Jean-Michel Nguyen, Jean-Jacques Schott, Pierre Boisseau, Denis Escande, Hervé Le Marec.
      https://hal.univ-brest.fr/hal-00750431

      2005

    • [47] Magnetic resonance sounding (MRS) and resistivity characterisation of a mountain hard rock aquifer: the Ringelbach Catchment, Vosges Massif, France
      Jean-Michel Baltassat, A. Legchenko, Bruno Ambroise, Francis Mathieu, Patrick Lachassagne, Robert Wyns, J. L. Mercier, Jean-Jacques Schott.
      https://hal-insu.archives-ouvertes.fr/insu-00383122
    • [49] Ridge segmentation and the magnetic structure of the Southwest Indian Ridge (at 50°30'E, 55°30'E and 66°20'E): Implications for magmatic processes at ultraslow-spreading centers.
      Daniel Sauter, Hélène Carton, Véronique Mendel, Marc Munschy, Céline Rommevaux-Jestin, Jean-Jacques Schott, Hubert Whitechurch.
      https://hal.archives-ouvertes.fr/hal-00104257
page

Groupement de Recherche en Intégration de données Omics à Très grande Echelle