Associated Papers
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Lopez-de la Rosa A et al.
Orphanet Journal of Rare Diseases, 2024
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C et al.
American Journal of Ophthalmology, 2023
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Romero R et al.
Npj Genomic Medicine, 2022
35087072 (PubMed )
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