Patrícia José

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant et al. · Ophthalmology · 2013 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Life Sciences, Genetics, Molecular Genetics +17

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Inmaculada Martín-Mérida, Domingo Aguilera‐Garcia, Patrícia José et al. · Investigative Ophthalmology & Visual Science · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Medicine, Genetics, Molecular Genetics +16