Familial Blau syndrome: First molecularly confirmed report from India

Por Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Publicado no Indian J Ophthalmol (2019)

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Por Smith, Colin, McColl, Barry W., Patir, Anirudh, Barrington, Jack, Armishaw, Jeremy, Clarke, Antonia, Eaton, Jenny, Hobbs, Vivienne, Mansour, Sahar, Nolan, Melinda, Rice, Gillian I., Rodero, Mathieu P., Seabra, Luis, Uggenti, Carolina, Livingston, John H., Bridges, Leslie R., Jeffrey, Iona J. M., Crow, Yanick J.
Publicado no Acta Neuropathol (2020)

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Por Lepelley, Alice, Martin-Niclós, Maria José, Le Bihan, Melvin, Marsh, Joseph A., Uggenti, Carolina, Rice, Gillian I., Bondet, Vincent, Duffy, Darragh, Hertzog, Jonny, Rehwinkel, Jan, Amselem, Serge, Boulisfane-El Khalifi, Siham, Brennan, Mary, Carter, Edwin, Chatenoud, Lucienne, Chhun, Stéphanie, Coulomb l’Hermine, Aurore, Depp, Marine, Legendre, Marie, Mackenzie, Karen J., Marey, Jonathan, McDougall, Catherine, McKenzie, Kathryn J., Molina, Thierry Jo, Neven, Bénédicte, Seabra, Luis, Thumerelle, Caroline, Wislez, Marie, Nathan, Nadia, Manel, Nicolas, Crow, Yanick J., Frémond, Marie-Louise
Publicado no J Exp Med (2020)

Type I interferon-mediated autoinflammation due to DNase II deficiency

Por Rodero, Mathieu P., Tesser, Alessandra, Bartok, Eva, Rice, Gillian I., Della Mina, Erika, Depp, Marine, Beitz, Benoit, Bondet, Vincent, Cagnard, Nicolas, Duffy, Darragh, Dussiot, Michael, Frémond, Marie-Louise, Gattorno, Marco, Guillem, Flavia, Kitabayashi, Naoki, Porcheray, Fabrice, Rieux-Laucat, Frederic, Seabra, Luis, Uggenti, Carolina, Volpi, Stefano, Zeef, Leo A H., Alyanakian, Marie-Alexandra, Beltrand, Jacques, Bianco, Anna Monica, Boddaert, Nathalie, Brouzes, Chantal, Candon, Sophie, Caorsi, Roberta, Charbit, Marina, Fabre, Monique, Faletra, Flavio, Girard, Muriel, Harroche, Annie, Hartmann, Evelyn, Lasne, Dominique, Marcuzzi, Annalisa, Neven, Bénédicte, Nitschke, Patrick, Pascreau, Tiffany, Pastore, Serena, Picard, Capucine, Picco, Paolo, Piscianz, Elisa, Polak, Michel, Quartier, Pierre, Rabant, Marion, Stocco, Gabriele, Taddio, Andrea, Uettwiller, Florence, Valencic, Erica, Vozzi, Diego, Hartmann, Gunther, Barchet, Winfried, Hermine, Olivier, Bader-Meunier, Brigitte, Tommasini, Alberto, Crow, Yanick J.
Publicado no Nat Commun (2017)

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Por Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Publicado no Hum Mutat (2020)