Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1
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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.
Li X et al.
Acta Oto-laryngologica, 2019
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