Associated Papers
Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.
Joo SY et al.
Scientific Reports, 2025
41023131 (PubMed )
Supplement: 41598_2025_18852_MOESM1_ESM.pdf
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Zhang W et al.
Bmc Medical Genomics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Morín M et al.
Scientific Reports, 2020
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J et al.
Scientific Reports, 2020
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
Varga L et al.
Bmc Medical Genetics, 2019
Identification of a novel missense eya4 mutation causing autosomal dominant non‑syndromic hearing loss in a chinese family.
Xiao SY et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR et al.
Plos One, 2015
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
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