Miguel Ángel López-Martínez

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid et al. · The American Journal of Human Genetics · 2017 · 77 citations · Full text

Ocular Disease, Developmental Biology, Retina +8

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Ana Arteche‐López, Almudena Ávila‐Fernández, Raquel Escutia Romero et al. · Scientific Reports · 2021 · 65 citations · Full text

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