Rocío Sánchez-Alcudia

Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA

Ana María Rincón, C. Aguado, Lourdes R. Desviat et al. · The American Journal of Human Genetics · 2007 · 71 citations · Full text

Medicine, Genetics, Natural Sciences +9

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Raquel Pérez-Carro, Marta Cortón, Iker Sánchez‐Navarro et al. · Scientific Reports · 2016 · 62 citations · Full text

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

Patrícia José, Marta Cortón, Fiona Blanco‐Kelly et al. · Investigative Ophthalmology & Visual Science · 2015 · 51 citations

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón et al. · Human Molecular Genetics · 2015 · 51 citations · Full text

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez et al. · PLoS ONE · 2016 · 46 citations · Full text

Ocular Disease, Genetics, Genetic Epidemiology +28