Erik de Vrieze

Assistant Professor

Radboud Universitair Medisch Centrum

Netherlands

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About

Erik de Vrieze is an Assistant Professor at Radboud Universitair Medisch Centrum in the Netherlands. His research focuses on genetic disorders affecting vision and hearing, with recent publications exploring topics such as ciliopathy, retinal dysfunction, and the assessment of sleep quality in patients with Usher syndrome. He employs advanced techniques, including long-read sequencing and CRISPR/Cas9 genome editing, to investigate the molecular mechanisms underlying these conditions.

Articles (18)

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2025

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2023

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2022

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2022

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2021

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2021

Collaborators (9)

Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

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Frauke Coppieters

Associate professor, PI of the TaRGeT lab

Ghent University

BELGIUM

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Tuomo Mantere

University of Oulu

FINLAND

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Erwin van Wijk

Radboud University Medical Center

NETHERLANDS

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Andy J. Beynon

Radboud University Medical Center

NETHERLANDS

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Elisabeth van Rossum

Erasmus University Rotterdam

NETHERLANDS

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Rafael Artuch

MD, PhD.. Head of clinical biochemistry Department

Hospital de la Santa Creu i Sant Pau

SPAIN

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Catherina Li

Radboud University Medical Center

NETHERLANDS

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Karlien L. M. Coene

NETHERLANDS

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Erik de Vrieze

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Articles (18)

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Actigraphy-based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case-control study.

<i>RRAGD</i> variants cause cardiac dysfunction in a zebrafish model.

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for <i>USH2A</i>-associated retinitis pigmentosa.

Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.

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

Altering gene expression using antisense oligonucleotide therapy for hearing loss.

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Generation of Humanized Zebrafish Models for the In Vivo Assessment of Antisense Oligonucleotide-Based Splice Modulation Therapies.

Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

Collaborators (9)

Kornelia Neveling

Frauke Coppieters

Tuomo Mantere

Erwin van Wijk

Andy J. Beynon

Elisabeth van Rossum

Rafael Artuch

Catherina Li

Karlien L. M. Coene

Make your next move.

Erik de Vrieze

Research Interests

Explore related searches

Contact this professor

About

Articles (18)

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Actigraphy-based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case-control study.

<i>RRAGD</i> variants cause cardiac dysfunction in a zebrafish model.

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for <i>USH2A</i>-associated retinitis pigmentosa.

Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.

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

Altering gene expression using antisense oligonucleotide therapy for hearing loss.

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Generation of Humanized Zebrafish Models for the In Vivo Assessment of Antisense Oligonucleotide-Based Splice Modulation Therapies.

Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

Collaborators (9)

Kornelia Neveling

Frauke Coppieters

Tuomo Mantere

Erwin van Wijk

Andy J. Beynon

Elisabeth van Rossum

Rafael Artuch

Catherina Li

Karlien L. M. Coene

Make your next move.

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