Roser Duarte-Gonzalez
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 20 publications
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
Journal: Investigative ophthalmology & visual science
Published: July 14, 2020
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Journal: Genes
Published: February 24, 2020
Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.
Journal: Advances in experimental medicine and biology
Published: December 30, 2019
Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.
Journal: Stem cell research
Published: March 10, 2019
RPGeNet v2.0: expanding the universe of retinal disease gene interactions network.
Journal: Database : the journal of biological databases and curation
Published: March 06, 2019
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
Journal: The British journal of ophthalmology
Published: October 05, 2017
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
Journal: PloS one
Published: July 25, 2016
Last Updated: 09/26/2026