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Page 1
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Fernández-Suárez E, González-Del Pozo M, García-Núñez A, Méndez-Vidal C, Martín-Sánchez M, Mejías-Carrasco JM, Ramos-Jiménez M, Morillo-Sánchez MJ, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Fernández-Suárez E, et al. Front Cell Dev Biol. 2023 Jul 21;11:1197744. doi: 10.3389/fcell.2023.1197744. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37547476 Free PMC article.
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
González-Del Pozo M, Fernández-Suárez E, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: fernandez suarez e. J Transl Med. 2020 Feb 12;18(1):73. doi: 10.1186/s12967-020-02258-3. J Transl Med. 2020. PMID: 32050993 Free PMC article.
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M, Bravo-Gil N, González-Del Pozo M, Méndez-Vidal C, Fernández-Suárez E, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Martín-Sánchez M, et al. Among authors: fernandez suarez e. Int J Mol Sci. 2020 Dec 8;21(24):9355. doi: 10.3390/ijms21249355. Int J Mol Sci. 2020. PMID: 33302505 Free PMC article.
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M, Fernández-Suárez E, Bravo-Gil N, Méndez-Vidal C, Martín-Sánchez M, Rodríguez-de la Rúa E, Ramos-Jiménez M, Morillo-Sánchez MJ, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: fernandez suarez e. NPJ Genom Med. 2022 Mar 4;7(1):17. doi: 10.1038/s41525-022-00286-0. NPJ Genom Med. 2022. PMID: 35246562 Free PMC article.
Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation.
Guerrero-Gómez D, Mora-Lorca JA, Sáenz-Narciso B, Naranjo-Galindo FJ, Muñoz-Lobato F, Parrado-Fernández C, Goikolea J, Cedazo-Minguez Á, Link CD, Neri C, Sequedo MD, Vázquez-Manrique RP, Fernández-Suárez E, Goder V, Pané R, Cabiscol E, Askjaer P, Cabello J, Miranda-Vizuete A. Guerrero-Gómez D, et al. Among authors: fernandez suarez e. Cell Death Differ. 2019 Sep;26(9):1545-1565. doi: 10.1038/s41418-018-0270-9. Epub 2019 Feb 15. Cell Death Differ. 2019. PMID: 30770874 Free PMC article.
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C, Bravo-Gil N, Pérez-Florido J, Marcos-Luque I, Fernández RM, Fernández-Rueda JL, González-Del Pozo M, Martín-Sánchez M, Fernández-Suárez E, Mena M, Carmona R, Dopazo J, Borrego S, Antiñolo G. Méndez-Vidal C, et al. Among authors: fernandez suarez e. J Transl Med. 2025 Jan 20;23(1):86. doi: 10.1186/s12967-025-06069-2. J Transl Med. 2025. PMID: 39833864 Free PMC article.