Sanne J. Broekman
Nijmegen, GE 6525GA, Netherlands
Last Updated: 09/26/2026
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Found 22 publications
Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa.
Journal: Molecular therapy. Nucleic acids
Published: April 18, 2025
RRAGD variants cause cardiac dysfunction in a zebrafish model.
Journal: American journal of physiology. Heart and circulatory physiology
Published: September 27, 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Journal: Molecular therapy. Nucleic acids
Published: July 11, 2024
Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.
Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.
Journal: Hearing research
Published: October 09, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Journal: Journal of inherited metabolic disease
Published: May 13, 2023
Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.
Journal: Cells
Published: March 21, 2023
Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid.
Journal: Frontiers in cell and developmental biology
Published: January 13, 2023
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa.
Journal: Molecular therapy. Nucleic acids
Published: November 18, 2022
Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina.
Journal: Journal of proteomics
Published: May 13, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Journal: NPJ genomic medicine
Published: January 25, 2022
The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: October 19, 2021
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes.
Journal: International journal of molecular sciences
Published: July 30, 2021
Last Updated: 09/26/2026