Jaap Oostrik

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 33 publications

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

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

Journal: Genome research
Published: September 24, 2024

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Journal: Human genetics
Published: July 29, 2024

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.

Journal: Genes
Published: January 03, 2023

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

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.

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.

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.

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

Journal: Human genetics
Published: November 23, 2021

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

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

Journal: Human genetics
Published: October 05, 2021

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

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

Journal: Human genetics
Published: May 30, 2021

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

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

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: March 12, 2021

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.

Journal: Developmental cell
Published: November 11, 2020
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Last Updated: 09/26/2026