Comprehensive Identification of Meningococcal Genes and Small Noncoding RNAs Required for Host Cell Colonization

por Capel, Elena, Zomer, Aldert L., Nussbaumer, Thomas, Bole, Christine, Izac, Brigitte, Frapy, Eric, Meyer, Julie, Bouzinba-Ségard, Haniaa, Bille, Emmanuelle, Jamet, Anne, Cavau, Anne, Letourneur, Franck, Bourdoulous, Sandrine, Rattei, Thomas, Nassif, Xavier, Coureuil, Mathieu
Publicado en mBio (2016)

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

por Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Demeer, Bénédicte, Brétillon, Lionel, Bole, Christine, Nitschke, Patrick, Munnich, Arnold, Lyonnet, Stanislas, Calvas, Patrick, Kaplan, Josseline, Ragge, Nicola, Rozet, Jean-Michel
Publicado 2013

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

por Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Publicado en Am J Hum Genet (2015)

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

por Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Publicado en Am J Hum Genet (2015)

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency

por Pillay, Bethany A., Fusaro, Mathieu, Gray, Paul E., Statham, Aaron L., Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De Villartay, Jean-Pierre, Ziegler, John B., Smart, Joanne M., Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G., Ma, Cindy S.
Publicado en J Clin Invest (2021)

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

por Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I., Rozet, Jean-Michel, Fares Taie, Lucas
Publicado en Am J Hum Genet (2016)