Experience of targeted Usher exome sequencing as a clinical test

by Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, Jose M. Millan, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Published 2014-01-01

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

by Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux
Published 2023-02-01

P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder

by Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier
Published 2024-01-01

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

by Estelle Colin, Estelle Colin, Yannis Duffourd, Martin Chevarin, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Hana Safraou, Thomas Besnard, Thomas Besnard, Alice Goldenberg, Alice Goldenberg, Benjamin Cogné, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Julian Delanne, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Martine Doco-Fenzy, Kevin Uguen, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Paul Kuentz, Anne Boland, Robert Olaso, Robert Olaso, Jean-François Deleuze, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Patrick Callier, Christophe Philippe, Christophe Philippe, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Antonio Vitobello, Antonio Vitobello
Published 2023-02-01