Marco Aben
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 11 publications
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Journal: HGG advances
Published: October 11, 2022
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Journal: International journal of molecular sciences
Published: September 02, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Journal: NPJ genomic medicine
Published: January 25, 2022
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
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Journal: International journal of molecular sciences
Published: May 20, 2021
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Journal: American journal of human genetics
Published: July 25, 2020
Maintenance of spatial gene expression by Polycomb-mediated repression after formation of a vertebrate body plan.
Journal: Development (Cambridge, England)
Published: March 29, 2019
Loss of the Polycomb group protein Rnf2 results in derepression of tbx-transcription factors and defects in embryonic and cardiac development.
Journal: Scientific reports
Published: September 24, 2018
The ezh2(sa1199) mutant zebrafish display no distinct phenotype.
Journal: PloS one
Published: August 10, 2018
Normal formation of a vertebrate body plan and loss of tissue maintenance in the absence of ezh2.
Journal: Scientific reports
Published: December 11, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026