Janine Reurink
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Journal: Frontiers in cell and developmental biology
Published: November 30, 2022
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
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 19, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Journal: NPJ genomic medicine
Published: May 19, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Journal: NPJ genomic medicine
Published: January 25, 2022
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Journal: Human genetics
Published: November 23, 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
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
Showing 1-9 of 9
Last Updated: 09/26/2026