Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

af Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale
Udgivet i Acta Neuropathol Commun (2021)

Assessment of multiplex digital droplet RT-PCR as a diagnostic tool for SARS-CoV-2 detection in nasopharyngeal swabs and saliva samples

af Cassinari, Kévin, Alessandri-Gradt, Elodie, Chambon, Pascal, Charbonnier, Françoise, Gracias, Ségolène, Beaussire, Ludivine, Alexandre, Kevin, Sarafan-Vasseur, Nasrin, Houdayer, Claude, Etienne, Manuel, Caron, François, Plantier, Jean Christophe, Frebourg, Thierry
Udgivet i Clin Chem (2021)

Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS)

af Boyer, Olivier, Bridoux, Valérie, Giverne, Camille, Bisson, Aurélie, Koning, Edith, Leroi, Anne-Marie, Chambon, Pascal, Déhayes, Justine, Le Corre, Stephanie, Jacquot, Serge, Bastit, Dominique, Martinet, Jérémie, Houivet, Estelle, Tuech, Jean-Jacques, Benichou, Jacques, Michot, Francis
Udgivet i Ann Surg (2018)

Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma

af Fontanilles, Maxime, Marguet, Florent, Ruminy, Philippe, Basset, Carole, Noel, Adrien, Beaussire, Ludivine, Viennot, Mathieu, Viailly, Pierre-Julien, Cassinari, Kevin, Chambon, Pascal, Richard, Doriane, Alexandru, Cristina, Tennevet, Isabelle, Langlois, Olivier, Di Fiore, Frédéric, Laquerrière, Annie, Clatot, Florian, Sarafan-Vasseur, Nasrin
Udgivet i Acta Neuropathol Commun (2020)

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

af Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique
Udgivet i Transl Psychiatry (2020)

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

af Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël
Udgivet i Eur J Hum Genet (2020)

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

af 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
Udgivet i Eur J Hum Genet (2016)

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

af Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Udgivet i Am J Hum Genet (2017)