Erwin van Wijk

Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment

The paper evaluates two USH2A variants using minigene assays and zebrafish models, finding that one variant may be benign and the other not pathogenic.

ARTIFICIAL SELECTION DIVERSIFIES BIRDSONG THROUGH POLYGENIC CHANGES ACROSS SENSORY AND MOTOR SYSTEMS

This study shows that artificial selection in canaries leads to polygenic changes across sensory and motor systems, affecting song diversity and auditory traits.

Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction

The paper identifies two novel deep-intronic PCDH15 variants in Usher syndrome patients and demonstrates the efficacy of antisense oligonucleotides in correcting their splicing defects.

Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders

This study develops patient-derived inner ear organoids to evaluate antisense oligonucleotide therapies for hereditary hearing loss, showing effective ASO uptake and splice correction in disease models.

Expanding the options for therapeutic exon skipping as a future treatment for USH2A-associated disease by 3D structural modeling of newly formed hybrid domains

This study uses AlphaFold2 to predict viable hybrid domains from exon skipping combinations in USH2A, expanding therapeutic options for Usher syndrome.

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

Usherin in the pineal gland: altered sleep in zebrafish models of Usher syndrome type 2a

This study investigates the role of usherin in zebrafish sleep regulation, finding altered sleep-wake behavior in ush2a mutants despite normal circadian rhythms and melatonin release.

Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

This study demonstrates that QR-421a induces exon 13 skipping in USH2A transcripts, restoring retinal function in zebrafish and non-human primates.

Allele-specific antisense oligonucleotide therapy for dominantly inherited hearing impairment DFNA9.

This study demonstrates that antisense oligonucleotides targeting the c.151C>T mutation in COCH can reduce mutant transcript levels in transgenic cells, suggesting potential as a therapy for DFNA9.

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.