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Age-Related Hearing Loss.
Bowl MR, Dawson SJ. Bowl MR, et al. Cold Spring Harb Perspect Med. 2019 Aug 1;9(8):a033217. doi: 10.1101/cshperspect.a033217. Cold Spring Harb Perspect Med. 2019. PMID: 30291149 Free PMC article. Review.
Genetic landscape of auditory dysfunction.
Bowl MR, Brown SDM. Bowl MR, et al. Hum Mol Genet. 2018 Aug 1;27(R2):R130-R135. doi: 10.1093/hmg/ddy158. Hum Mol Genet. 2018. PMID: 29726933 Review.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.
Helios is a key transcriptional regulator of outer hair cell maturation.
Chessum L, Matern MS, Kelly MC, Johnson SL, Ogawa Y, Milon B, McMurray M, Driver EC, Parker A, Song Y, Codner G, Esapa CT, Prescott J, Trent G, Wells S, Dragich AK, Frolenkov GI, Kelley MW, Marcotti W, Brown SDM, Elkon R, Bowl MR, Hertzano R. Chessum L, et al. Nature. 2018 Nov;563(7733):696-700. doi: 10.1038/s41586-018-0728-4. Epub 2018 Nov 21. Nature. 2018. PMID: 30464345 Free PMC article.
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