20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

door Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis
Gepubliceerd in 2014

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

door Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique, Laumonnier, Frédéric, Odent, Sylvie, Le Vacon, Gael, Joly-Helas, Géraldine, David, Véronique, Bendavid, Claude, Pinoit, Jean-Michel, Henry, Céline, Impallomeni, Caterina, Germano, Eva, Tortorella, Gaetano, Di Rosa, Gabriella, Barthelemy, Catherine, Andres, Christian, Faivre, Laurence, Frébourg, Thierry, Saugier Veber, Pascale, Campion, Dominique
Gepubliceerd in 2009

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

door Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Gepubliceerd in Eur J Hum Genet (2016)