Associated Papers
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Tlili A et al.
Genes, 2024
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.
Sewerin S et al.
Genes & Diseases, 2022
35873018 (PubMed )
Supplement: mmc1.pdf
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA et al.
Human Genetics, 2022
35278131 (PubMed )
Supplement: 439_2022_2444_MOESM1_ESM.pdf
Association study of CLDN14 variations in patients with kidney stones.
Ullah I et al.
Open Life Sciences, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
Kitano T et al.
International Journal of Molecular Sciences, 2019
A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report.
Mohamed WKE et al.
Frontiers in Genetics, 2019
Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss.
Lu Y et al.
International Journal of Pediatric Otorhinolaryngology, 2018
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G et al.
Nature Genetics, 2009
Select a paper to view details