Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.

Journal of molecular medicine (Berlin, Germany) - 27 Jun 2026

Oziębło Dominika, Leja Marcin L, Gan Nina, Bałdyga Natalia, Toliat Mohammad Reza, Budde Birgit S, Skarżyński Henryk, Ołdak Monika

Abstract excerpt

Autosomal dominant hearing loss (ADHL) is a highly heterogeneous Mendelian disorder with numerous causative genes, yet large well-characterized European cohorts remain limited. We investigated 108 families of Polish origin with confirmed dominant inheritance using a tiered strategy integrating targeted sequencing of 237 hearing loss genes, genome-wide linkage analysis, genome sequencing, segregation studies in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to WFS1 gene
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Predisposition to Disease

Share to Hearing Loss

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42371110
DOI: 10.1007/s00109-026-02692-8
PMCID: PMC13314912

Genes

ATP11A
EYA4
GSDME
MYO6
POU4F3
TBC1D24
WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.PMID 42371110Read ↗

A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.Semantic proximity Read ↗

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.Semantic proximity Read ↗

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.Semantic proximity Read ↗

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Semantic proximity Read ↗

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.Semantic proximity Read ↗

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic ApproachSemantic proximity Read ↗

Genomic Landscape and Mutational Signatures of Deafness-Associated GenesSemantic proximity Read ↗

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approachSemantic proximity Read ↗

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossSemantic proximity Read ↗

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.Semantic proximity Read ↗

Unravelling the genetic bases of hearing loss : functional characterisation of pathogenic variants and novel candidate genes identified by whole-exome sequencingSemantic proximity Read ↗

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.