Assessment of the latest NGS enrichment capture methods in clinical context

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

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

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

Experience of targeted Usher exome sequencing as a clinical test

by 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
Published 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

by García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Published 2014

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

by Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Published 2011

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

by Aller, Elena, Sánchez-Sánchez, Ana V., Chicote, Javier U., García-García, Gema, Udaondo, Patricia, Cavallé, Laura, Piquer-Gil, Marina, García-España, Antonio, Díaz-Llopis, Manuel, Millán, José M., Mullor, José L.
Published 2013

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

by García-García, Gema, Aparisi, María J., Rodrigo, Regina, Sequedo, María D., Espinós, Carmen, Rosell, Jordi, Olea, José L., Mendívil, M. Paz, Ramos-Arroyo, María A, Ayuso, Carmen, Jaijo, Teresa, Aller, Elena, Millán, José M.
Published 2012

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

by Aparisi, María José, García-García, Gema, Aller, Elena, Sequedo, María Dolores, Martínez-Fernández de la Cámara, Cristina, Rodrigo, Regina, Armengot, Miguel, Cortijo, Julio, Milara, Javier, Díaz-LLopis, Manuel, Jaijo, Teresa, Millán, José María
Published 2013

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

by Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Published 2014