Patrícia José

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

Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant et al. · Ophthalmology · 2013 · 70 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

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

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

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

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Berta Almoguera, Sijie He, Marta Cortón et al. · Orphanet Journal of Rare Diseases · 2014 · 41 citations · Full text