Elena Fernández-Suárez

Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation

David Guerrero‐Gómez, José Antonio Mora-Lorca, Beatriz Sáenz‐Narciso et al. · Cell Death and Differentiation · 2019 · 41 citations · Full text

Reductive Stress, Cell Autophagy, Mitophagy +12

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

María González‐del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez et al. · Journal of Translational Medicine · 2020 · 34 citations · Full text

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

María González‐del Pozo, Elena Fernández-Suárez, Nereida Bravo‐Gil et al. · npj Genomic Medicine · 2022 · 20 citations · Full text

Genetics, Genetic Epidemiology, Pathology +21

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

Elena Fernández-Suárez, María González‐del Pozo, Alejandro García-Núñez et al. · Frontiers in Cell and Developmental Biology · 2023 · 11 citations · Full text

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

Elena Fernández-Suárez, María González‐del Pozo, Cristina Méndez‐Vidal et al. · Mobile DNA · 2024 · 11 citations · Full text