Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA et al.
Cold Spring Harbor Molecular Case Studies, 2020
32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
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