Catherina Li

Radboud University Medical Center

Netherlands

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Articles (11)

Year:

2025

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Collaborators (8)

Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

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Roly Megaw

Clinical Lecturer

University of Edinburgh

UNITED KINGDOM

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Elfride De Baere

BELGIUM

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Erwin van Wijk

Radboud University Medical Center

NETHERLANDS

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Christian Gilissen

Professor of Genome Bioinformatics

Universitair Medisch Centrum Utrecht

NETHERLANDS

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Erik de Vrieze

Assistant Professor

Radboud Universitair Medisch Centrum

NETHERLANDS

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Jane Farrar

Head of School

Trinity College Dublin

IRELAND

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Catherina Li

Research Interests

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Articles (11)

The Visual Acuity Course in Stargardt Disease

Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

Systemic complement activation levels in Stargardt disease

The phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: An ophthalmic perspective

Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls?

Collaborators (8)

Kornelia Neveling

Roly Megaw

Elfride De Baere

Erwin van Wijk

Christian Gilissen

Erik de Vrieze

Jane Farrar

Jamie Ellingford

Make your next move.

Catherina Li

Research Interests

Explore related searches

Contact this professor

Articles (11)

The Visual Acuity Course in Stargardt Disease

Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics and Progression

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

Scrutinizing pathogenicity of the USH2A c.2276 G &gt; T; p.(Cys759Phe) variant

Systemic complement activation levels in Stargardt disease

The phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: An ophthalmic perspective

Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls?

Collaborators (8)

Kornelia Neveling

Roly Megaw

Elfride De Baere

Erwin van Wijk

Christian Gilissen

Erik de Vrieze

Jane Farrar

Jamie Ellingford

Make your next move.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant