Marianthi Karali - Publications

Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects.

Journal: Translational vision science & technology

Published: May 12, 2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: February 01, 2026

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Journal: Investigative ophthalmology & visual science

Published: September 03, 2025

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.

Journal: JAMA ophthalmology

Published: July 17, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

Journal: bioRxiv : the preprint server for biology

Published: July 15, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

Journal: American journal of human genetics

Published: June 10, 2025

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

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.

Journal: HGG advances

Published: January 09, 2025

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

Journal: Molecular genetics & genomic medicine

Published: August 29, 2024

In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration.

Journal: Molecular therapy. Nucleic acids

Published: July 23, 2024

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Journal: Investigative ophthalmology & visual science

Published: June 17, 2024