Nuclear outsourcing of RNA interference components to human mitochondria.

by Simonetta Bandiera, Silvia Rüberg, Muriel Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude
Published 2011-01-01

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

by Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Published 2012-01-01

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

by Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
Published 2021-02-01

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

by Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Published 2019-08-01

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

by Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Published 2018-01-01

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

by Frédégonde About, Frédégonde About, Stéphanie Bibert, Emmanuelle Jouanguy, Emmanuelle Jouanguy, Bertrand Nalpas, Lazaro Lorenzo, Lazaro Lorenzo, Vimel Rattina, Vimel Rattina, Mohammed Zarhrate, Sylvain Hanein, Sylvain Hanein, Mona Munteanu, Beat Müllhaupt, David Semela, Nasser Semmo, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Ioannis Theodorou, Philippe Sultanik, Thierry Poynard, Thierry Poynard, Stanislas Pol, Pierre-Yves Bochud, Aurélie Cobat, Aurélie Cobat, Laurent Abel, Laurent Abel, Laurent Abel, The Swiss Hepatitis C Cohort Study Group, The French ANRS HC EP 26 Genoscan Study Group, Francesco Negro, Antoine Hadengue, Laurent Kaiser, Laura Rubbia-Brandt, Darius Moradpour, Cristina Cellerai, Martin Rickenbach, Andreas Cerny, Gladys Martinetti, Jean-François Dufour, Meri Gorgievski, Virginie Masserey Spicher, Markus Heim, Hans Hirsch, Beat Helbling, Stephan Regenass, Raffaele Malinverni, Guenter Dollenmaier, Gieri Cathomas
Published 2019-11-01

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

by Athanasia Stoupa, Athanasia Stoupa, Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Neila Belguith, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Michel Polak, Aurore Carré, Aurore Carré
Published 2021-02-01