The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

por Didiot, Marie-Cécile, Tian, Zhaoxia, Schaeffer, Céline, Subramanian, Murugan, Mandel, Jean-Louis, Moine, Hervé
Publicado 2008

AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model

por Habbas, Karima, Cakil, Oktay, Zámbó, Boglárka, Tabet, Ricardos, Riet, Fabrice, Dembele, Doulaye, Mandel, Jean‐Louis, Hocquemiller, Michaël, Laufer, Ralph, Piguet, Françoise, Moine, Hervé
Publicado 2022

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA

por Coutelle, Romain, Boedec, Morgane, Vermeulen, Karlijn, Kummeling, Joost, Koolen, David A., Kleefstra, Tjitske, Fournier, Camille, Colin, Florent, Strehle, Axelle, Geneviève, David, Burger, Pauline, Mandel, Jean-Louis
Publicado 2022

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

por Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Coutelle, Romain, Durand, Benjamin, Bouman, Arianne, Landau Prat, Daphna, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David A., Mandel, Jean-Louis
Publicado 2022

Spatial control of nucleoporin condensation by fragile X‐related proteins

por Agote‐Aran, Arantxa, Schmucker, Stephane, Jerabkova, Katerina, Jmel Boyer, Inès, Berto, Alessandro, Pacini, Laura, Ronchi, Paolo, Kleiss, Charlotte, Guerard, Laurent, Schwab, Yannick, Moine, Hervé, Mandel, Jean‐Louis, Jacquemont, Sebastien, Bagni, Claudia, Sumara, Izabela
Publicado 2020

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

por Buj-Bello, Anna, Fougerousse, Françoise, Schwab, Yannick, Messaddeq, Nadia, Spehner, Danièle, Pierson, Christopher R., Durand, Muriel, Kretz, Christine, Danos, Olivier, Douar, Anne-Marie, Beggs, Alan H., Schultz, Patrick, Montus, Marie, Denèfle, Patrice, Mandel, Jean-Louis
Publicado 2008

Next generation sequencing for molecular diagnosis of neuromuscular diseases

por Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn
Publicado 2012

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

por Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean
Publicado 2012

Sex-specific impact of prenatal androgens on social brain default mode subsystems

por Lombardo, Michael V., Auyeung, Bonnie, Pramparo, Tiziano, Quartier, Angélique, Courraud, Jérémie, Holt, Rosemary J., Waldman, Jack, Ruigrok, Amber N. V., Mooney, Natasha, Bethlehem, Richard A. I., Lai, Meng-Chuan, Kundu, Prantik, Bullmore, Edward T., Mandel, Jean-Louis, Piton, Amélie, Baron-Cohen, Simon
Publicado 2018

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

por Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent
Publicado 2016

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

por Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A., Gutiérrez-Solana, Luis G., López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora
Publicado 2022

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

por Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel
Publicado 2022

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

por Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie
Publicado 2014

Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics

por de Angelis, Martin Hrabě, Nicholson, George, Selloum, Mohammed, White, Jacqui, Morgan, Hugh, Ramirez-Solis, Ramiro, Sorg, Tania, Wells, Sara, Fuchs, Helmut, Fray, Martin, Adams, David J, Adams, Niels C, Adler, Thure, Aguilar-Pimentel, Antonio, Ali-Hadji, Dalila, Amann, Gregory, André, Philippe, Atkins, Sarah, Auburtin, Aurelie, Ayadi, Abdel, Becker, Julien, Becker, Lore, Bedu, Elodie, Bekeredjian, Raffi, Birling, Marie-Christine, Blake, Andrew, Bottomley, Joanna, Bowl, Mike, Brault, Véronique, Busch, Dirk H, Bussell, James N, Calzada-Wack, Julia, Cater, Heather, Champy, Marie-France, Charles, Philippe, Chevalier, Claire, Chiani, Francesco, Codner, Gemma F, Combe, Roy, Cox, Roger, Dalloneau, Emilie, Dierich, André, Di Fenza, Armida, Doe, Brendan, Duchon, Arnaud, Eickelberg, Oliver, Esapa, Chris T, El Fertak, Lahcen, Feigel, Tanja, Emelyanova, Irina, Estabel, Jeanne, Favor, Jack, Flenniken, Ann, Gambadoro, Alessia, Garrett, Lilian, Gates, Hilary, Gerdin, Anna-Karin, Gkoutos, George, Greenaway, Simon, Glasl, Lisa, Goetz, Patrice, Da Cruz, Isabelle Goncalves, Götz, Alexander, Graw, Jochen, Guimond, Alain, Hans, Wolfgang, Hicks, Geoff, Hölter, Sabine M, Höfler, Heinz, Hancock, John M, Hoehndorf, Robert, Hough, Tertius, Houghton, Richard, Hurt, Anja, Ivandic, Boris, Jacobs, Hughes, Jacquot, Sylvie, Jones, Nora, Karp, Natasha A, Katus, Hugo A, Kitchen, Sharon, Klein-Rodewald, Tanja, Klingenspor, Martin, Klopstock, Thomas, Lalanne, Valerie, Leblanc, Sophie, Lengger, Christoph, le Marchand, Elise, Ludwig, Tonia, Lux, Aline, McKerlie, Colin, Maier, Holger, Mandel, Jean-Louis, Marschall, Susan, Mark, Manuel, Melvin, David G, Meziane, Hamid, Micklich, Kateryna, Mittelhauser, Christophe, Monassier, Laurent, Moulaert, David, Muller, Stéphanie, Naton, Beatrix, Neff, Frauke, Nolan, Patrick M, Nutter, Lauryl MJ, Ollert, Markus, Pavlovic, Guillaume, Pellegata, Natalia S, Peter, Emilie, Petit-Demoulière, Benoit, Pickard, Amanda, Podrini, Christine, Potter, Paul, Pouilly, Laurent, Puk, Oliver, Richardson, David, Rousseau, Stephane, Quintanilla-Fend, Leticia, Quwailid, Mohamed M, Racz, Ildiko, Rathkolb, Birgit, Riet, Fabrice, Rossant, Janet, Roux, Michel, Rozman, Jan, Ryder, Ed, Salisbury, Jennifer, Santos, Luis, Schäble, Karl-Heinz, Schiller, Evelyn, Schrewe, Anja, Schulz, Holger, Steinkamp, Ralf, Simon, Michelle, Stewart, Michelle, Stöger, Claudia, Stöger, Tobias, Sun, Minxuan, Sunter, David, Teboul, Lydia, Tilly, Isabelle, Tocchini-Valentini, Glauco P, Tost, Monica, Treise, Irina, Vasseur, Laurent, Velot, Emilie, Vogt-Weisenhorn, Daniela, Wagner, Christelle, Walling, Alison, Weber, Bruno, Wendling, Olivia, Westerberg, Henrik, Willershäuser, Monja, Wolf, Eckhard, Wolter, Anne, Wood, Joe, Wurst, Wolfgang, Yildirim, Ali Önder, Zeh, Ramona, Zimmer, Andreas, Zimprich, Annemarie, Holmes, Chris, Steel, Karen P, Herault, Yann, Gailus-Durner, Valérie, Mallon, Ann-Marie, Brown, Steve DM
Publicado 2015