Vasileios Toulis
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 16 publications
Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.
Journal: Investigative ophthalmology & visual science
Published: August 03, 2026
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Journal: Human molecular genetics
Published: October 25, 2024
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Journal: Frontiers in genetics
Published: July 24, 2024
Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders.
Journal: International journal of molecular sciences
Published: October 04, 2022
Altered retinal structure and function in Spinocerebellar ataxia type 3.
Journal: Neurobiology of disease
Published: February 13, 2022
On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.
Journal: Frontiers in cell and developmental biology
Published: October 30, 2020
By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
Journal: Advances in experimental medicine and biology
Published: April 11, 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
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina.
Journal: Cell reports
Published: January 13, 2020
Expression of deubiquitinating enzyme genes in the developing mammal retina.
Journal: Molecular vision
Published: June 07, 2019
Last Updated: 09/26/2026