Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

por Bandiera, Simonetta, Rüberg, Silvia, Girard, Muriel, Cagnard, Nicolas, Hanein, Sylvain, Chrétien, Dominique, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Publicado 2011

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

por Gerard, Xavier, Perrault, Isabelle, Hanein, Sylvain, Silva, Eduardo, Bigot, Karine, Defoort-Delhemmes, Sabine, Rio, Marlèene, Munnich, Arnold, Scherman, Daniel, Kaplan, Josseline, Kichler, Antoine, Rozet, Jean-Michel
Publicado 2012

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

por Perrault, Isabelle, Hanein, Sylvain, Gérard, Xavier, Mounguengue, Nelson, Bouyakoub, Ryme, Zarhrate, Mohammed, Fourrage, Cécile, Jabot-Hanin, Fabienne, Bocquet, Béatrice, Meunier, Isabelle, Zanlonghi, Xavier, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2021

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

por Munnich, Arnold, Demily, Caroline, Frugère, Lisa, Duwime, Charlyne, Malan, Valérie, Barcia, Giulia, Vidal, Céline, Throo, Emeline, Besmond, Claude, Hubert, Laurence, Roland-Manuel, Gilles, Malen, Jean-Pierre, Ferreri, Mélanie, Hanein, Sylvain, Thalabard, Jean-Christophe, Boddaert, Nathalie, Assouline, Moïse
Publicado 2019

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options

por Rodari, Marco M., Cazals-Hatem, Dominique, Uzzan, Mathieu, Martin Silva, Nicolas, Khiat, Anis, Ta, Minh Chau, Lhermitte, Ludovic, Touzart, Aurore, Hanein, Sylvain, Rouillon, Cléa, Joly, Francisca, Elmorjani, Adrienne, Steffann, Julie, Cerf-Bensussan, Nadine, Parlato, Marianna, Charbit-Henrion, Fabienne
Publicado 2023

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

por About, Frédégonde, Bibert, Stéphanie, Jouanguy, Emmanuelle, Nalpas, Bertrand, Lorenzo, Lazaro, Rattina, Vimel, Zarhrate, Mohammed, Hanein, Sylvain, Munteanu, Mona, Müllhaupt, Beat, Semela, David, Semmo, Nasser, Casanova, Jean-Laurent, Theodorou, Ioannis, Sultanik, Philippe, Poynard, Thierry, Pol, Stanislas, Bochud, Pierre-Yves, Cobat, Aurélie, Abel, Laurent
Publicado 2019

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

por Stoupa, Athanasia, Al Hage Chehade, Ghada, Chaabane, Rim, Kariyawasam, Dulanjalee, Szinnai, Gabor, Hanein, Sylvain, Bole-Feysot, Christine, Fourrage, Cécile, Nitschke, Patrick, Thalassinos, Caroline, Pinto, Graziella, Mnif, Mouna, Baron, Sabine, De Kerdanet, Marc, Reynaud, Rachel, Barat, Pascal, Hachicha, Mongia, Belguith, Neila, Polak, Michel, Carré, Aurore
Publicado 2021

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

por Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc’h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M., Cerf-Bensussan, Nadine
Publicado 2018

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

por Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Publicado 2018

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

por Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Publicado 2020