Hannie Kremer

Radboud University Nijmegen — Netherlands

Neuroscience · Life Sciences

65h-index16.7kcitations307works2.22yr avg
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Research Topics

Hearing, Cochlea, Tinnitus, Genetics(128), Vestibular and auditory disorders(46), Hearing Loss and Rehabilitation(32), Retinal Development and Disorders(32), Connexins and lens biology(25)

Publications304 total

Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa
Molecular Therapy — Nucleic Acids·2025Open Access
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss
Journal of the Association for Research in Otolaryngology·2025· 2 citedOpen Access
Integrin-TGFβ axis induces partial EMT in basal-like cells to lead collective invasion
2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
Genome Research·2025· 1 citedOpen Access
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
Human Genetics·2024· 3 citedOpen Access
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
European Journal of Human Genetics·2024· 7 citedOpen Access
Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina
2024Open Access
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Human Genetics·2024· 6 citedOpen Access
[The value of re-evaluation and thorough family history taking for the diagnostic work-up of chorea].
PubMed·2024· 1 cited
Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology
Cells·2023· 16 citedOpen Access
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa
Molecular Therapy — Nucleic Acids·2023· 19 citedOpen Access
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
Audiology Research·2023· 8 citedOpen Access
Analysis of Rotterdam Study cohorts confirms a previously identified<i>RIPOR2</i>in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands
Journal of Medical Genetics·2023· 1 citedOpen Access
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C&gt;T p.(Pro838Ser)) Associated with DFNA6/14/38
Genes·2023· 8 citedOpen Access
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Human Genetics and Genomics Advances·2023· 27 citedOpen Access
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes
Genetics in Medicine·2022· 39 citedOpen Access
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
International Journal of Molecular Sciences·2022· 8 citedOpen Access
Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina
Journal of Proteomics·2022· 2 citedOpen Access
Scrutinizing pathogenicity of the USH2A c.2276 G &gt; T; p.(Cys759Phe) variant
npj Genomic Medicine·2022· 5 citedOpen Access
Genetics of Hearing Impairment
Genes·2022· 4 citedOpen Access
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Frequent Co-authors

Cor W. R. J. Cremers(13), Erwin van Wijk(12), Lies H. Hoefsloot(11), Ronald J. E. Pennings(9), Margit Schraders(8), Guy Van Camp(8), Jaap Oostrik(8), Henricus P. M. Kunst(7), P.L.M. Huygen(7), Ronald Roepman(7), Han G. Brunner(6), Frans P.M. Cremers(6), Uwe Wolfrum(6), R.J.C. Admiraal(6), Edwin C.M. Mariman(5), Lisette Hetterschijt(5), Theo Peters(5), Richard J. Smith(5), Marcel Nelen(4), Christian Gilissen(4)