Hannie P. Kremer

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 88 publications

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Journal: Molecular medicine (Cambridge, Mass.)

Published: July 22, 2025

Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa.

Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa.

Journal: Molecular therapy. Nucleic acids

Published: April 18, 2025

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.

Journal: Journal of the Association for Research in Otolaryngology : JARO

Published: January 16, 2025

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

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

The value of re-evaluation and thorough family history taking for the diagnostic work-up of chorea

The value of re-evaluation and thorough family history taking for the diagnostic work-up of chorea

Journal: Tijdschrift voor psychiatrie

Published: February 21, 2024

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Journal: Human genetics

Published: October 18, 2023

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.

Journal: Cells

Published: March 21, 2023

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

Journal: Audiology research

Published: January 18, 2023

Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.

Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.

Journal: Journal of medical genetics

Published: January 05, 2023

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

Showing 1-12 of 88

Last Updated: 09/26/2026