Marianthi Karali

Telethon Institute of Genetics and Medicine

Italy

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Articles (15)

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2025

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2024

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2024

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2024

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2022

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2021

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2021

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2021

Collaborators (16)

Andrea L. Vincent

NEW ZEALAND

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Christopher Inglehearn

University of Leeds

UNITED KINGDOM

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Carmen Ayuso

SPAIN

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Elfride De Baere

BELGIUM

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Frauke Coppieters

Associate professor, PI of the TaRGeT lab

Ghent University

BELGIUM

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Enrico Tedeschi

Professore Associato - Neuroradiologia

Università degli Studi di Napoli Federico II

ITALY

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Pietro Chiurazzi

Università Cattolica del Sacro Cuore

ITALY

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Carlo Rivolta

Professor of Ophthalmic Genetics

University of Basel

SWITZERLAND

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Petra Liskova

Charles University in Prague

CZECH REPUBLIC

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Jane Farrar

Head of School

Trinity College Dublin

IRELAND

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Michael Gorin

Professor

University of California, Los Angeles

UNITED STATES

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Valeria Policastro

Junior Assistant Professor

University of Naples Federico II

ITALY

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Susan M. Downes

Oxford University Hospitals NHS Foundation Trust

UNITED KINGDOM

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Giorgio CASARI

Professor and Group Leader

Vita-Salute San Raffaele University

ITALY

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Sandro BANFI

University of Campania “Luigi Vanvitelli”

ITALY

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Lubica Dudakova

Charles University

CZECH REPUBLIC

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Marianthi Karali

Research Interests

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Articles (15)

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

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice

Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

Collaborators (16)

Andrea L. Vincent

Christopher Inglehearn

Carmen Ayuso

Elfride De Baere

Frauke Coppieters

Enrico Tedeschi

Pietro Chiurazzi

Carlo Rivolta

Petra Liskova

Jane Farrar

Michael Gorin

Valeria Policastro

Susan M. Downes

Giorgio CASARI

Sandro BANFI

Lubica Dudakova

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