2025
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis
Cornejo-Sanchez D, Bharadwaj T, Dong R, Wang G, Schrauwen I, DeWan A, Leal S. Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. European Journal Of Human Genetics 2025, 33: 758-767. PMID: 40055553, PMCID: PMC12185688, DOI: 10.1038/s41431-025-01789-x.Peer-Reviewed Original ResearchRare-variantsHearing loss genesAssociated with HLNon-syndromicAssociation analysisHL geneHearing phenotypeUK BiobankMinor allele frequencyOlder adultsSensorineural disorderARHLEffect sizeWhite EuropeansAssociated with genesAge-relatedIn silico analysisAnalysis of variantsExome dataAssociationGenes i.Allele frequenciesHLGenesPresbycusis
2023
The genetic contribution of the X chromosome in age-related hearing loss
Naderi E, Cornejo-Sanchez D, Li G, Schrauwen I, Wang G, Dewan A, Leal S. The genetic contribution of the X chromosome in age-related hearing loss. Frontiers In Genetics 2023, 14: 1106328. PMID: 36896235, PMCID: PMC9988903, DOI: 10.3389/fgene.2023.1106328.Peer-Reviewed Original ResearchX chromosomeChromosome XGenome-wide significance levelMRNA expression analysisExpression analysisChromosomesAssociation analysisGenetic variantsCommon sensory impairmentGenetic contributionAnalysis of malesAge-related hearing lossHair cellsInner ear tissuesInner hair cellsUK BiobankARHLVariantsHuman inner ear tissueEar tissueGenesLociHeritabilitySex-stratified analysesCells
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