Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

por Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas
Publicado 2012

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

por Fingerlin, Tasha E., Murphy, Elissa, Zhang, Weiming, Peljto, Anna L., Brown, Kevin K., Steele, Mark P., Loyd, James E., Cosgrove, Gregory P., Lynch, David, Groshong, Steve, Collard, Harold R., Wolters, Paul J., Bradford, Williamson Z., Kossen, Karl, Seiwert, Scott D., du Bois, Roland M., Garcia, Christine Kim, Devine, Megan S., Gudmundsson, Gunnar, Isaksson, Helgi J., Kaminski, Naftali, Zhang, Yingze, Gibson, Kevin F., Lancaster, Lisa H., Cogan, Joy D., Mason, Wendi R., Maher, Toby M., Molyneaux, Philip L., Wells, Athol U., Moffatt, Miriam F., Selman, Moises, Pardo, Annie, Kim, Dong Soon, Crapo, James D., Make, Barry J., Regan, Elizabeth A., Walek, Dinesha S., Daniel, Jerry J., Kamatani, Yoichiro, Zelenika, Diana, Smith, Keith, McKean, David, Pedersen, Brent S., Talbert, Janet, Kidd, Ravin N., Markin, Cheryl R., Beckman, Kenneth B., Lathrop, Mark, Schwarz, Marvin I., Schwartz, David A.
Publicado 2013

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

por Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
Publicado 2014