Javier Ederra-Ruiz
Leioa, PV, Spain
Last Updated: 09/26/2026
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Found 19 publications
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Topical Administration of Novel FKBP12 Ligand MP-004 Improves Retinal Function and Structure in Retinitis Pigmentosa Models.
Journal: Investigative ophthalmology & visual science
Published: March 26, 2025
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Journal: Experimental eye research
Published: February 28, 2024
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Journal: Frontiers in genetics
Published: June 03, 2023
Subretinal Injection Techniques for Retinal Disease: A Review.
Journal: Journal of clinical medicine
Published: June 30, 2022
Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Journal: Scientific reports
Published: May 28, 2019
SOX2 haploinsufficiency promotes impaired vision at advanced age.
Journal: Oncotarget
Published: July 18, 2018
Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa.
Journal: Investigative ophthalmology & visual science
Published: May 31, 2018
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Journal: Scientific reports
Published: February 19, 2018
Anterior and posterior capsule densitometry levels after femtosecond laser-assisted cataract surgery.
Journal: International journal of ophthalmology
Published: June 03, 2017
Last Updated: 09/26/2026