Associated Papers
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
Lee B et al.
Human Mutation, 2019
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
Lee HJ et al.
Clinical Genetics, 2014
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
Song MH et al.
The Laryngoscope, 2014
A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss.
Kim Y et al.
Biochemical and Biophysical Research Communications, 2013
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