Concepedia

Patrícia José

PJ

Statistics

Publications

15

Citations

534

H-Index

12

Active since

2013

Affiliations

Instituto de Salud Carlos III(Current)

Hospital Universitario Fundación Jiménez Díaz

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Children's Hospital of Philadelphia

Patrícia José is an author at Instituto de Salud Carlos III specializing in genetics, genetic epidemiology, and medicine.

Top concepts

Publications per year

2013–2021

15

Publications

15

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

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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

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