Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.
Baumholtz AI et al.
Frontiers in Neuroscience, 2020
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.
Faller N et al.
Urolithiasis, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
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
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.
Charif M et al.
Gene, 2013
Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.
Charif M et al.
Indian Journal of Human Genetics, 2013
Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion.
Toka HR et al.
Plos One, 2013
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K et al.
American Journal of Medical Genetics. Part A, 2012
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G et al.
Nature Genetics, 2009
tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.
Guzauskas GF et al.
Genomics, 2007
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Wattenhofer M et al.
Human Mutation, 2005
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
Uyguner O et al.
Clinical Genetics, 2003