Catherina Z. Li
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 15 publications
A Comparison of Randomizing Either One Eye or Both Eyes in Clinical Trials for Stargardt Disease Type 1.
Journal: Ophthalmology science
Published: May 02, 2025
Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.
Journal: Investigative ophthalmology & visual science
Published: April 28, 2025
The Visual Acuity Course in Stargardt Disease.
Journal: American journal of ophthalmology
Published: April 01, 2025
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Journal: Cells
Published: December 21, 2023
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Journal: Ophthalmology
Published: April 12, 2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Journal: HGG advances
Published: October 11, 2022
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.
Journal: Investigative ophthalmology & visual science
Published: May 24, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Journal: NPJ genomic medicine
Published: May 19, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Journal: NPJ genomic medicine
Published: January 25, 2022
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Journal: Human genetics
Published: November 23, 2021
Last Updated: 09/26/2026