Publications HAL des membres

Pierre Lindenbaum

      2018

    • [1] 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
    • [3] 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

    • [4] 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.
      http://www.hal.inserm.fr/inserm-01813739
    • [5] Accurate Identification and Quantification of DNA Species by Next Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells
      Magalie Penaud-Budloo, Emilie Lecomte, Aurélien Guy-Duché, Sylvie Saleun, Alain Roulet, Celine Lopez-Roques, Benoit Tournaire, Benjamin Cogné, Adrien Leger, Véronique Blouin, Pierre Lindenbaum, Philippe Moullier, Eduard Ayuso.
      https://hal.archives-ouvertes.fr/hal-01607265
    • [6] Accurate Identification and Quantification of DNA Species by Next-Generation Sequencing in Adeno-Associated Viral Vectors Produced in Insect Cells
      Magalie Penaud-Budloo, Emilie Lecomte, Aurélien Guy-Duché, Sylvie Saleun, Alain Roulet, Celine Lopez-Roques, Benoît Tournaire, Benjamin Cogné, Adrien Léger, Véronique Blouin, Pierre Lindenbaum, Philippe Moullier, Eduard Ayuso.
      https://hal.archives-ouvertes.fr/hal-01608396

      2016

    • [7] Dysfunction of the Voltage-Gated K + Channel b2 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 Baro, Céline Marionneau, Flavien Charpentier, Richard Redon.
      http://www.hal.inserm.fr/inserm-01331008
    • [8] 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
    • [9] 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
    • [10] 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
    • [11] 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

    • [12] 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.
      http://www.hal.inserm.fr/inserm-01799968
    • [13] 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
    • [15] 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
    • [16] Short-lived recombinant adeno-associated virus transgene expression in dystrophic muscle is associated with oxidative damage to transgene mRNA
      Jean-Baptiste Dupont, Benoit Tournaire, Christophe Georger, Béatrice Marolleau, Laurence Jeanson-Leh, Mireille Ledevin, Pierre Lindenbaum, Emilie Lecomte, Benjamin Cogné, Laurence Dubreil, Thibaut Larcher, Bernard Gjata, Laetitia Van Wittenberghe, Caroline Le Guiner, Magalie Penaud-Budloo, Richard Snyder, Philippe Moullier, Adrien Leger.
      http://www.hal.inserm.fr/inserm-01799048

      2014

    • [17] 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.
      http://www.hal.inserm.fr/inserm-01800006

      2011

    • [18] BioStar: an online question & answer resource for the bioinformatics community.
      Laurence Parnell, Pierre Lindenbaum, Khader Shameer, Giovanni Marco Dall'Olio, Daniel Swan, Lars Juhl Jensen, Simon Cockell, Brent Pedersen, Mary Mangan, Christopher Miller, Istvan Albert.
      http://www.hal.inserm.fr/inserm-00691554
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Groupement de Recherche en Intégration de données Omics à Très grande Echelle