Rosellina Guarascio

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

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

The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within Photoreceptors.

The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within Photoreceptors.

Journal: Investigative ophthalmology & visual science

Published: March 30, 2026

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.

Journal: Investigative ophthalmology & visual science

Published: July 30, 2025

Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.

Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.

Journal: Investigative ophthalmology & visual science

Published: July 22, 2025

Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Journal: Acta neuropathologica communications

Published: May 19, 2025

Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.

Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.

Journal: Cell death discovery

Published: May 12, 2025

Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.

Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.

Journal: Molecular therapy. Nucleic acids

Published: April 04, 2025

Light as a Mediator of Acute and Chronic Retina Degeneration.

Light as a Mediator of Acute and Chronic Retina Degeneration.

Journal: Advances in experimental medicine and biology

Published: February 10, 2025

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Journal: American journal of human genetics

Published: October 15, 2024

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Journal: Acta neuropathologica communications

Published: October 07, 2024

A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.

A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.

Journal: International journal of molecular sciences

Published: February 29, 2024

Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.

Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.

Journal: Progress in retinal and eye research

Published: December 07, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026