Gema García‐García

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Radulfus WN Slijkerman, Christel Vaché, Margo Dona et al. · Molecular Therapy — Nucleic Acids · 2016 · 133 citations · Full text

Ocular Disease, Genetics, Molecular Biology +17

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 117 citations

Engineering, Genetics, Pathology +16

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

David Baux, Christel Vaché, Christophe Blanchet et al. · Scientific Reports · 2017 · 86 citations · Full text

Assessment of the latest NGS enrichment capture methods in clinical context

Gema García‐García, David Baux, Valérie Faugère et al. · Scientific Reports · 2016 · 85 citations · Full text

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María José Aparisi, Elena Aller, Carla Fuster‐García et al. · Orphanet Journal of Rare Diseases · 2014 · 83 citations · Full text