Hannie Kremer

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.

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.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

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.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

The paper identifies an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss, with implications for genetic therapy.

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.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.