Associated Papers
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.
Damrongchietanon T et al.
Scientific Reports, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1
Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.
Lee YH et al.
Genes, 2023
37107638 (PubMed )
Supplement: genes-14-00880-s001.zip › genes-2290782-supplementary.pdf
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 2017
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.
Zhang F et al.
International Journal of Pediatric Otorhinolaryngology, 2016
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y et al.
Plos One, 2016
Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.
Rah YC et al.
The Laryngoscope, 2015
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
Lee HJ et al.
Clinical Genetics, 2014
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.
Guo YF et al.
International Journal of Pediatric Otorhinolaryngology, 2010
[Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography].
Zhao J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
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