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  1. No Access

    Article

    A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

    While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome seque...

    Claire J. Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo… in Human Genetics (2019)

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    Article

    MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

    While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant...

    Guney Bademci, Clemer Abad, Armagan Incesulu, Abolfazl Rad, Ozgul Alper… in Human Genetics (2018)

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    Article

    Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

    Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes...

    Denise Yan, Demet Tekin, Guney Bademci, Joseph Foster II, F. Basak Cengiz… in Human Genetics (2016)