Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2026

  1. Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients

    Investigative Ophthalmology and Visual Science, Vol. 67, Núm. 2

2024

  1. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

    International Journal of Molecular Sciences, Vol. 25, Núm. 5

2023

  1. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    Frontiers in Genetics, Vol. 14