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
Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.
Zhao Y et al.
Bmc Medical Genomics, 2024
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
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.
Zeng B et al.
Frontiers in Genetics, 2022
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
Sun Y et al.
Medicine, 2019
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.
Zhu J et al.
Intractable & Rare Diseases Research, 2015
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
Xin F et al.
Journal of Translational Medicine, 2013
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.
Rocca FE et al.
Human Genetics, 2010
Select a paper to view details