Raquel Pérez-Carro

Genomic Landscape of Sporadic Retinitis Pigmentosa

Inmaculada Martín-Mérida, Almudena Ávila‐Fernández, Marta Del Pozo‐Valero et al. · Ophthalmology · 2019 · 67 citations

Medicine, Genetics, Next-generation Sequencing +6

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

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Koji M. Nishiguchi, Almudena Ávila‐Fernández, Ramon A. C. van Huet et al. · Ophthalmology · 2014 · 55 citations

Exome Sequencing, Genetics, Molecular Genetics +2

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