Assessment of the latest NGS enrichment capture methods in clinical context

por García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2016

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

por Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Publicado 2019

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

por García-García, Gema, Besnard, Thomas, Baux, David, Vaché, Christel, Aller, Elena, Malcolm, Sue, Claustres, Mireille, Millan, Jose M., Roux, Anne-Françoise
Publicado 2013

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy

por Torriano, Simona, Erkilic, Nejla, Baux, David, Cereso, Nicolas, De Luca, Valerie, Meunier, Isabelle, Moosajee, Mariya, Roux, Anne-Francoise, Hamel, Christian P., Kalatzis, Vasiliki
Publicado 2018

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

por Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2022

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

por Yauy, Kevin, Van Goethem, Charles, Pégeot, Henri, Baux, David, Guignard, Thomas, Thèze, Corinne, Ardouin, Olivier, Roux, Anne-Françoise, Koenig, Michel, Bergougnoux, Anne, Cossée, Mireille
Publicado 2023

Experience of targeted Usher exome sequencing as a clinical test

por Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2014

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

por Cenni, Camille, Mansard, Luke, Blanchet, Catherine, Baux, David, Vaché, Christel, Baudoin, Corinne, Moclyn, Mélodie, Faugère, Valérie, Mondain, Michel, Jeziorski, Eric, Roux, Anne-Françoise, Willems, Marjolaine
Publicado 2021

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

por Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
Publicado 2020

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

por Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2021

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

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