Marianthi Karali

机构：University of Campania "Luigi Vanvitelli", University of Campania "Luigi Vanvitelli", Telethon Institute Of Genetics And Medicine · ORCID：0000-0003-0757-3330

发表论文 80 篇 · 总被引 2123 次 · h-index 25

代表论文

• Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics (2020 · Genetics in Medicine · 被引 144)
• Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy (2022 · Scientific Reports · 被引 89)
• Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy (2021 · International Journal of Molecular Sciences · 被引 46)
• Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations (2020 · Investigative Ophthalmology & Visual Science · 被引 45)
• RetiGene, a comprehensive gene atlas for inherited retinal diseases (2025 · The American Journal of Human Genetics · 被引 37)
• Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study (2021 · International Journal of Molecular Sciences · 被引 37)