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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle Share Save
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia Erjavec, Elisa; Angee, Clementine; Hadjadj, Djihad; Passet, Bruno; David, Pierre; Kostic, Corinne; Dode, Emmanuel; Zanlonghi, Xavier; Cagnard, Nicolas; Nedelec, Brigitte; Crippa, Sylvain V.; Bole-Feysot, Christine; Zarhrate, Mohammed; Creuzet, Sophie; Castille, Johan; Vilotte, Jean-Luc; Calvas, Patrick; Plaisancie, Julie; Chassaing, Nicolas; Kaplan, Josseline; Rozet, Jean-Michel; Taie, Lucas Fares Share Save
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice Soudais, Claire; Schaus, Romane; Bachelet, Camille; Minet, Norbert; Mouasni, Sara; Garcin, Cecile; Souza, Caique Lopes; David, Pierre; Cousu, Clara; Asnagli, Helene; Parker, Andrew; Palmquist-Gomes, Paul; Sepulveda, Fernando E.; Storck, Sebastien; Meilhac, Sigolene M.; Fischer, Alain; Martin, Emmanuel; Latour, Sylvain Share Save
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia Ucuncu, Ekin; Rajamani, Karthyayani; Wilson, Miranda S. C.; Medina-Cano, Daniel; Altin, Nami; David, Pierre; Barcia, Giulia; Lefort, Nathalie; Banal, Celine; Vasilache-Dangles, Marie-Therese; Pitelet, Gaele; Lorino, Elsa; Rabasse, Nathalie; Bieth, Eric; Zaki, Maha S.; Topcu, Meral; Sonmez, Fatma Mujgan; Musaev, Damir; Stanley, Valentina; Bole-Feysot, Christine; Nitschke, Patrick; Munnich, Arnold; Bahi-Buisson, Nadia; Fossoud, Catherine; Giuliano, Fabienne; Colleaux, Laurence; Burglen, Lydie; Gleeson, Joseph G.; Boddaert, Nathalie; Saiardi, Adolfo; Cantagrel, Vincent Share Save
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice De Tomasi, Lara; David, Pierre; Humbert, Camille; Silbermann, Flora; Arrondel, Christelle; Tores, Frederic; Fouquet, Stephane; Desgrange, Audrey; Niel, Olivier; Bole-Feysot, Christine; Nitschke, Patrick; Roume, Joelle; Cordier, Marie-Pierre; Pietrement, Christine; Isidor, Bertrand; Van Kien, Philippe Khau; Gonzales, Marie; Saint-Frison, Marie-Helene; Martinovic, Jelena; Novo, Robert; Piard, Juliette; Cabrol, Christelle; Verma, Ishwar C.; Puri, Ratna; Journel, Hubert; Aziza, Jacqueline; Gavard, Laurent; Said-Menthon, Marie-Helene; Heidet, Laurence; Saunier, Sophie; Jeanpierre, Cecile Share Save
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