Dyah W. Karjosukarso

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Context Matters: The Importance of a Comprehensive Genomic Region When Assessing the Therapeutic Potential of Antisense Oligonucleotides in Splicing Assays.

Context Matters: The Importance of a Comprehensive Genomic Region When Assessing the Therapeutic Potential of Antisense Oligonucleotides in Splicing Assays.

Journal: Nucleic acid therapeutics

Published: August 25, 2025

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease.

Journal: Communications medicine

Published: March 22, 2024

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.

Journal: Cells

Published: December 21, 2023

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: September 13, 2023

Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.

Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.

Journal: Stem cell research

Published: June 19, 2023

Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.

Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.

Journal: Stem cell research

Published: June 19, 2023

Pathogenic variants in three families with distal muscle involvement.

Pathogenic variants in three families with distal muscle involvement.

Journal: Neuromuscular disorders : NMD

Published: July 05, 2022

Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature.

Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature.

Journal: Investigative ophthalmology & visual science

Published: February 26, 2020

Epithelial HMGB1 Delays Skin Wound Healing and Drives Tumor Initiation by Priming Neutrophils for NET Formation.

Epithelial HMGB1 Delays Skin Wound Healing and Drives Tumor Initiation by Priming Neutrophils for NET Formation.

Journal: Cell reports

Published: January 14, 2019

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Journal: Human molecular genetics

Published: June 29, 2018

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Journal: Human molecular genetics

Published: May 17, 2018

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Journal: European journal of human genetics : EJHG

Published: September 11, 2017

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Last Updated: 09/26/2026