Publications HAL des membres

Richard Redon

      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] Characterization of 3D Bifurcations in Micro-scan and MRA-TOF Images of Cerebral Vasculature for Prediction of Intra-Cranial Aneurysms
      Anass Nouri, Florent Autrusseau, Romain Bourcier, Alban Gaignard, Vincent L'allinec, Céline Menguy, Joëlle Véziers, Hubert Desal, Gervaise Loirand, Richard Redon.
      https://hal.archives-ouvertes.fr/hal-02888926
    • [3] Prediction of Unruptured Intracranial Aneurysm Evolution: The UCAN Project
      Vincent l'Allinec, Stéphanie Chatel, Matilde Karakachoff, Emmanuelle Bourcereau, Zeineb Es-Salah-Lamoureux, Alban Gaignard, Florent Autrusseau, Solène Jouan, Anne-Clémence Vion, Gervaise Loirand, Hubert Desal, Olivier Naggara, Richard Redon, Myriam Edjlali-Goujon, Romain Bourcier.
      https://hal.archives-ouvertes.fr/hal-02889889
    • [6] The genetic history of France
      Aude Saint-Pierre, Joanna Giemza, Isabel Alves, Matilde Karakachoff, Marinna Gaudin, Philippe Amouyel, Jean-François Dartigues, Christophe Tzourio, Martial Monteil, Pilar Galan, Serge Hercberg, Iain Mathieson, Richard Redon, Emmanuelle Génin, Christian Dina.
      https://hal.archives-ouvertes.fr/hal-02480238
    • [7] Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
      Alexandre Belot, Gillian Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Sarda, Behrouz Kassai, Jean-Christophe Lega, Stéphane Decramer, Pauline Abou-Jaoude, Ian Bruce, Thomas Simonet, Claire Bardel, Pierre Antoine Rollat-Farnier, Sébastien Viel, Héloïse Reumaux, James O'Sullivan, Thierry Walzer, Anne-Laure Mathieu, Gaëlle Marenne, Thomas Ludwig, Emmanuelle Génin, Jamie Ellingford, Brigitte Bader-Meunier, Tracy Briggs, Michael Beresford, Yanick Crow, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Emma Allain-Launay, Kenza Bouayed, Stéphane Burtey, Véronique Despert, Olivier Fain, Michel Fischbach, Eric Hachulla, Yves Hatchuel, Jean-François Kleinmann, Isabelle Kone-Paut, Irène Lemelle, François Maurier, Ulrich Meinzer, Isabelle Melki, Maryam Piram, Jean Sibilia, Olivia Weill, Eslam Al-Abadi, Kate Armon, Kathryn Bailey, Mary Brennan, Coziana Ciurtin, Janet Gardner-Medwin, Kirsty Haslam, Daniel Hawley, Alice Leahy, Valentina Leone, Devesh Mewar, Rob Moots, Clarissa Pilkington, Athimalaipet Ramanan, Annie Ratcliffe, Arani Sridhar, Philip Riley, Rangaraj Satyapal, Ethan Sen, Nick Wilkinson, Fiona Wood.
      https://hal.archives-ouvertes.fr/hal-02867795

      2019

    • [8] 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
    • [9] RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
      Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie-Françoise O'Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna Hurst, Katherine Nelson, Shawn Gilbert, Yael Wilnai, Leonid Zeitlin, Eitan Segev, Robel Tesfaye, Mathilde Nizon, Benjamin Cogné, Stéphane Bézieau, Loic Geoffroy, Antoine Hamel, Emmanuelle Mayrargue, Benoît de Courtivron, Aliette Decock-Giraudaud, Céline Charrier, Olivier Pichon, Christelle Retiere, Richard Redon, Alexander Pepler, Kirsty Mcwalter, Lydie da Costa, Annick Toutain, Pierre-Emmanuel Gleizes, Marc Baud’huin, Bertrand Isidor.
      https://hal.archives-ouvertes.fr/hal-02327833
    • [10] Genetic determinants of intracranial aneurysm (IA) in autosomal dominant polycystic kidney disease (PKD)
      Claire Leman, Raphaël Gaisne, Axelle Durand, Matilde Karakachoff, Romain Bourcier, Lucile Figueres, Nicolas Vince, Richard Redon, Hubert Desal, Pierre-Antoine Gourraud, Maryvonne Hourmant, Sophie Limou.
      https://www.hal.inserm.fr/inserm-02161072
    • [11] INEX-MED: INtegration and EXploration of heterogeneous bio-MEDical data
      Alban Gaignard, Julie Thompson, Kirsley Chennen, Maxime Folschette, Jocelyn Laporte, Olivier Poch, Richard Redon, Hala Skaf-Molli.
      https://hal.archives-ouvertes.fr/hal-02330853
    • [12] INEX-MED: a Knowledge Graph to explore and link heterogeneous bio-medical data
      Maxime Folschette, Kirsley Chennen, Alban Gaignard, Richard Redon, Hala Skaf-Molli, Olivier Poch, Jocelyn Laporte, Julie Thompson.
      https://hal.archives-ouvertes.fr/hal-02330809
    • [13] 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
    • [14] On distributed collaboration for biomedical analyses
      Fatima-Zahra Boujdad, Alban Gaignard, Mario Südholt, Wilmer Garzón-Alfonso, Luis Daniel Benavides Navarro, Richard Redon.
      https://hal.archives-ouvertes.fr/hal-02080463
    • [15] Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
      Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty Mcwalter, Patrick Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte Li, Christopher Gordon, Jennifer Humberson, Laurie Robak, Daryl Scott, Vernon Sutton, Cara Skraban, Jennifer Johnston, Anna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri Zarate, Malin Kvarnung, Kevin Lally, Peggy Kulch, Brina Daniels, Andres García, Nicholas Stong, Julie Mcgaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine Geisheker, Asbjorg Stray-Pedersen, Jennifer Tarpinian, Eric Klee, Julie Sapp, Jacob Zyskind, Øystein Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind Busk, Jaya Punetha, Rolph Pfundt, Anna Li, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini Jhangiani, Tammie Dewan, Zeynep Coban Akdemir, Aida Telegrafi, Elaine Zackai, Amber Begtrup, Xiaofei Song, Ann Toutain, Ingrid Wentzensen, Sylvie Odent, Dominique Bonneau, Xenia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine Murphree, Pavel Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie Biesecker, Dan Lowenstein, Jennifer Posey, Anne-Sophie Denommé-Pichon, Claude Férec, Xiang-Jiao Yang, Jill Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James Lupski, David Goldstein, Evan Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe Campeau.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-02181523
    • [16] 3D bifurcations characterization for intra-cranial aneurysms prediction
      Anass Nouri, Florent Autrusseau, Romain Bourcier, Alban Gaignard, Vincent l'Allinec, Céline Menguy, Joëlle Véziers, Hubert Desal, Gervaise Loirand, Richard Redon.
      https://hal.archives-ouvertes.fr/hal-01896717
    • [17] Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
      Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Breheret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, Xavier Balguerie, Sébastien Barbarot, Geneviève Baujat, Tawfeg Ben-Omran, Anne-Claire Bursztejn, Virginie Carmignac, Alexandre N Datta, Aline Delignières, Laurence Faivre, Betty Gardie, Jean Louis Gueant, Paul Kuentz, Marion Lenglet, Marie-Cécile Nassogne, Vincent Ramaekers, Rhonda E Schnur, Yue Si, Erin Torti, Julien Thévenon, Pierre Vabres, Lionel van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor.
      https://hal.inrae.fr/hal-02629360
    • [19] Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
      Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha Jl Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Helene Dreau, Melissa Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean-Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus-Michael Debatin, Richard Redon, Stéphane Bezieau, Brigitte Bressac-de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot-Bonnemains, Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Holger Cario, Betty Gardie.
      https://hal.archives-ouvertes.fr/hal-01833917
    • [21] 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
    • [22] A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype
      Marie-Laure Vuillaume, Mederic Jeanne, Li Xue, Sophie Blesson, Anne-Sophie Denomme-Pichon, Servane Alirol, Celine Brulard, Estelle Colin, Bertrand Isidor, Brigitte Gilbert-Dussardier, Sylvie Odent, Philippe Parent, Audrey Donnart, Richard Redon, Stephane Bezieau, Philippe Rondard, Frederic Laumonnier, Annick Toutain.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01730199
    • [23] Parallel derivation of isogenic human primed and naive induced pluripotent stem cells
      Stéphanie Kilens, Dimitri Meistermann, Diego Moreno, Caroline Chariau, Anne Gaignerie, Arnaud Reignier, Yohann Lelièvre, Miguel Casanova, Céline Vallot, Steven Nedellec, Léa Flippe, Julie Firmin, Juan Song, Eric Charpentier, Jenna Lammers, Audrey Donnart, Nadège Marec, Wallid Deb, Audrey Bihouée, Cédric Le Caignec, Claire Pecqueur, Richard Redon, Paul Barriere, Jérémie Bourdon, Vincent Pasque, Magali Soumillon, Tarjei Mikkelsen, Claire Rougeulle, Thomas Freour, Laurent David, Milieu Intérieur Consortium.
      https://hal-pasteur.archives-ouvertes.fr/pasteur-01758726
    • [24] Parallel derivation of isogenic human primed and naive induced pluripotent stem cells
      The Milieu Intérieur Consortium, Stephanie Kilens, Dimitri Meistermann, Diego Moreno, Caroline Chariau, Anne Gaignerie, Arnaud Reignier, Yohann Lelièvre, Miguel Casanova, Céline Vallot, Steven Nedellec, Léa Flippe, Julie Firmin, Juan Song, Eric Charpentier, Jenna Lammers, Audrey Donnart, Nadège Marec, Wallid Deb, Audrey Bihouee, Cédric Le Caignec, Claire Pecqueur, Richard Redon, Paul Barriere, Jérémie Bourdon, Vincent Pasque, Magali Soumillon, Tarjei S Mikkelsen, Claire Rougeulle, Thomas Freour, Laurent David.
      https://www.hal.inserm.fr/hal-01881146
    • [25] 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

    • [26] De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
      Sébastien Küry, Geeske van Woerden, Thomas Besnard, Martina Onori, Xénia Latypova, Meghan Towne, Megan Cho, Trine Prescott, Melissa Ploeg, Stephan Sanders, Holly Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan Bernstein, Anne-Sophie Denommé-Pichon, Gaëtan Lesca, Elizabeth Sellars, Jonathan Berg, Wilfrid Carré, Øyvind Busk, Bregje van Bon, Jeff Waugh, Matthew Deardorff, George Hoganson, Katherine Bosanko, Diana Johnson, Tabib Dabir, Øystein Lunde Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir Braathen, Paulien Terhal, Dorothy Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie Nesbitt, Katherine Helbig, Marisa Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn Lincoln, Brandon Kusako, Pierre Lindenbaum, Eric Charpentier, Catherine Nowak, Elouan Cherot, Thomas Simonet, Claudia A.L. Ruivenkamp, Sihoun Hahn, Catherine Brownstein, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert-Dussardier, Annick Toutain, Vernon Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas Grabrucker, Christèle Dubourg, Undiagnosed Diseases Network, Wen-Hann Tan, Nienke Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew State, Tjitske Kleefstra, Benjamin Cogné, Gem Hugo, Deciphering Study, Slavé Petrovski, Kyle Retterer, Evan Eichler, Jill Rosenfeld, Pankaj Agrawal, Stéphane Bézieau, Sylvie Odent, Ype Elgersma, Sandra Mercier.
      https://www.hal.inserm.fr/inserm-01813739
    • [27] Value of the sodium-channel blocker challenge in Brugada syndrome
      Dylan Therasse, Frederic Sacher, Dominique Babuty, Philippe Mabo, Jacques Mansourati, Florence Kyndt, Richard Redon, Jean Jacques Schott, Julien Barc, Vincent Probst, Jean-Baptiste Gourraud.
      https://hal.archives-ouvertes.fr/hal-01832133
    • [28] 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
    • [29] 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
      K. Le Guennec, O. Quenez, G. Nicolas, D. Wallon, S. Rousseau, A.-C. Richard, J. Alexander, P. Paschou, C. Charbonnier, C. Bellenguez, B. Grenier-Boley, D. Lechner, M.-T. Bihoreau, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, P. Amouyel, H. M. Munter, G. Bourque, M. Lathrop, T. Frebourg, Richard Redon, L. Letenneur, J.-F. Dartigues, O. Martinaud, O. Kalev, S. Mehrabian, L. Traykov, T. Ströbel, I. Le Ber, P. Caroppo, S. Epelbaum, T. Jonveaux, F. Pasquier, A. Rollin-Sillaire, E. Génin, L. Guyant-Maréchal, G. G. Kovacs, J.-C. Lambert, D. Hannequin, D. Campion, A. Rovelet-Lecrux.
      https://hal.archives-ouvertes.fr/hal-01832142
    • [30] 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
    • [31] Is there an inherited anatomical conformation favoring aneurysmal formation of the anterior communicating artery?
      Romain Bourcier, Cédric Lenoble, Béatrice Guyomarch-Delasalle, Benjamin Daumas-Duport, Chrysanthi Papagiannaki, Richard Redon, Hubert Desal.
      https://hal.archives-ouvertes.fr/hal-01832146
    • [32] Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death
      Francois Huchet, Florence Kyndt, Julien Barc, Aurelie Thollet, Flavien Charpentier, Richard Redon, Jean Jacques Schott, Herve Marec, Vincent Probst, Jean-Baptiste Gourraud.
      https://hal.archives-ouvertes.fr/hal-01832147
    • [33] Sodium-channel blocker challenge in the familial screening of Brugada syndrome: safety and predictors of positivity
      Dylan Therasse, Frédéric Sacher, Bertrand Petit, Dominique Babuty, Philippe Mabo, Raphael Martins, Laurence Jesel, Philippe Maury, Jean Pasquie, Jacques Mansourati, Jean Dupuis, Florence Kyndt, Aurélie Thollet, Beatrice Guyomarch, Julien Barc, Jean Schott, Hervé Le Marec, Richard Redon, Vincent Probst, Jean-Baptiste Gourraud.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01650124
    • [34] De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
      Sébastien Kury, Geeske van Woerden, Thomas Besnard, Martina Onori, Xenia Latypova, Meghan Towne, Megan Cho, Trine Prescott, Melissa Ploeg, Stephan Sanders, Holly Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan Bernstein, Anne-Sophie Denommé-Pichon, Gaetan Lesca, Elizabeth Sellars, Jonathan Berg, Wilfrid Carré, Øyvind Busk, Bregje van Bon, Jeff Waugh, Matthew Deardorff, George Hoganson, Katherine Bosanko, Diana Johnson, Tabib Dabir, Øystein Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir Braathen, Paulien Terhal, Dorothy Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie Nesbitt, Katherine Helbig, Marisa Andrews, Amber Begtrup, Sha Tang, Koen van Gassen, Jane Juusola, Kimberly Foss, Gregory Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn Lincoln, Brandon Kusako, Pierre Lindenbaum, Eric Charpentier, Catherine Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Catherine Brownstein, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert-Dussardier, Annick Toutain, Vernon Sutton, Jenny Thies, Lisenka Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas Grabrucker, Christèle Dubourg, Undiagnosed Network, Wen-Hann Tan, Nienke Verbeek, Martin Granzow, Gijs Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew State, Tjitske Kleefstra, Benjamin Cogné, Gem Hugo, Deciphering Study, Slavé Petrovski, Kyle Retterer, Evan Eichler, Jill Rosenfeld, Pankaj Agrawal, Stéphane Bezieau, Sylvie Odent, Ype Elgersma, Sandra Mercier.
      https://hal.archives-ouvertes.fr/hal-02103973
    • [35] De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
      Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, Stephan J. Sanders, Andrea Lehmann, Xenia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice L. Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceno, Alberto Gómez, Kimberly M. Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A. F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01478814
    • [36] De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
      Sébastien Kury, Thomas Besnard, Frédéric Ebstein, Tahir Khan, Tomasz Gambin, Jessica Douglas, Carlos Bacino, William Craigen, Stephan Sanders, Andrea Lehmann, Xenia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James Gibson, Benjamin Cogné, James Lupski, Holly Stessman, Evan Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bezieau, Paweł Stankiewicz, Bertrand Isidor.
      https://hal.archives-ouvertes.fr/hal-02104164
    • [37] An association test to detect clustered disease-risk rare variants
      Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, Schott Jean-Jacques, Richard Redon, Lise Bellanger, Christian Dina.
      https://hal.archives-ouvertes.fr/hal-01801793
    • [38] Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project
      Romain Bourcier, Stéphanie Chatel, Emmanuelle Bourcereau, Solène Jouan, Hervé Le Marec, Benjamin Daumas-Duport, Mathieu Sevin-Allouet, Benoit Guillon, Vincent Roualdes, Tanguy Riem, Bertrand Isidor, Pierre Lebranchu, Jérôme Connault, Thierry Le Tourneau, Alban Gaignard, Gervaise Loirand, Richard Redon, Hubert Desal.
      https://hal.archives-ouvertes.fr/hal-01768333
    • [39] Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls
      Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Kilan Le Guennec, Gaël Nicolas, Ganesh Chauhan, David Wallon, Stéphane Rousseau, Anne-Claire Richard, Anne Boland, Guillaume Bourque, Hans Markus Munter, Robert Olaso, Vincent Meyer, Adeline Rollin-Sillaire, Florence Pasquier, Luc Letenneur, Richard Redon, Jean-François Dartigues, Christophe Tzourio, Thierry Frebourg, Mark Lathrop, Jean-François Deleuze, Didier Hannequin, Emmanuelle Genin, Philippe Amouyel, Stéphanie Debette, Jean-Charles Lambert, Dominique Campion, Audrey Gabelle-Deloustal, Pierre Labauge.
      https://hal.archives-ouvertes.fr/hal-01760388

      2016

    • [40] Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
      Anne Guimier, Christopher T. Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschke, Christine Bole-Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G. Laing, Béatrice Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc Pontual, Jean-Paul Rago, Agnès Delahodde, Jeanne Amiel.
      https://hal.archives-ouvertes.fr/hal-01831600
    • [41] 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
    • [42] 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
    • [43] ABCA7 rare variants and Alzheimer disease risk
      Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, Céline Bellenguez, Benjamin Grenier-Boley, Stéphane Rousseau, Anne-Claire Richard, Anne Rovelet-Lecrux, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, Philippe Amouyel, Hans Markus Munter, Guillaume Bourque, Mark Lathrop, Thierry Frebourg, Richard Redon, Luc Letenneur, Jean-François Dartigues, Florence Pasquier, Adeline Rollin-Sillaire, Emmanuelle Génin, Jean-Charles Lambert, Didier Hannequin, Dominique Campion, Cnr-Maj Collaborators.
      https://hal.archives-ouvertes.fr/hal-01831744
    • [44] 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
    • [45] 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
    • [46] 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
    • [47] 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
    • [48] De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
      Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally J. Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley E. Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xenia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne-Sophie Denommé, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Eric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01259225

      2015

    • [49] Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing
      Emilie Lecomte, Benoit Tournaire, Benjamin Cogné, Jean-Baptiste Dupont, Pierre Lindenbaum, Mélanie Martin-Fontaine, Frédéric Broucque, Cécile Robin, Matthias Hebben, Otto-Wilhelm Merten, Véronique Blouin, Achille François, Richard Redon, Philippe Moullier, Adrien Leger.
      https://www.hal.inserm.fr/inserm-01799968
    • [50] 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
    • [51] 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
    • [52] 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
    • [53] 0210 : Effect of SCN5A mutations and SCN10A, SCN5A and HEY2 frequent variants on ECG of Brugada patients during ajmaline test
      Dylan Therasse, Floriane Simonet, Christian Dina, Aurélie Thollet, Philippe Mabo, Frederic Sacher, Dominique Babuty, Philippe Maury, Jean Jacques Schott, Hervé Le Marec, Richard Redon, Vincent Probst, Jean-Baptiste Gourraud.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-01150488
    • [56] 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
    • [57] 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

    • [58] 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
    • [59] 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
    • [60] NGS library preparation may generate artifactual integration sites of AAV vectors
      Benjamin Cogné, Richard Snyder, Pierre Lindenbaum, Jean-Baptiste Dupont, Richard Redon, Philippe Moullier, Adrien Leger.
      https://www.hal.inserm.fr/inserm-01800006

      2013

    • [61] 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
    • [62] Large scale variation in DNA copy number in chicken breeds.
      Richard Crooijmans, Mark Fife, Tomas Fitzgerald, Shurnevia Strickland, Hans Cheng, Pete Kaiser, Richard Redon, Martien Groenen.
      https://www.hal.inserm.fr/inserm-00868020

      2008

    • [63] New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation
      Caroline Schluth, Roselyne Gesny, Guntram Borck, Richard Redon, Véronique Abadie, Pascale Kleinfinger, Arnold Munnich, Stanislas Lyonnet, Laurence Colleaux.
      https://hal.archives-ouvertes.fr/hal-02087870

      2007

    • [64] Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
      Jeanne Amiel, Marlène Rio, Loïc De Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel Carter, Stanislas Lyonnet, Arnold Munnich, Laurence Colleaux.
      https://hal.archives-ouvertes.fr/hal-02142167

      2006

    • [65] Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma.
      Thomas Hussenet, Nedjoua Mallem, Richard Redon, Bernard Jost, Alain Aurias, Stanislas Du Manoir.
      https://hal.archives-ouvertes.fr/hal-00187970
    • [66] Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
      Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Munnich, Nigel Carter, Valérie Cormier-Daire, Laurence Colleaux.
      https://hal.archives-ouvertes.fr/hal-02142127

      2004

    • [67] Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes.
      Béatrice Orsetti, Mélanie Nugoli, Nathalie Cervera, Laurence Lasorsa, Paul Chuchana, Lisa Ursule, Catherine Nguyen, Richard Redon, Stanislas Du Manoir, Carmen Rodriguez, Charles Theillet.
      https://www.hal.inserm.fr/inserm-00157287
page

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