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Next-generation sequencing in genetic hearing loss.
Yan D, Tekin M, Blanton SH, Liu XZ. Yan D, et al. Genet Test Mol Biomarkers. 2013 Aug;17(8):581-7. doi: 10.1089/gtmb.2012.0464. Epub 2013 Jun 5. Genet Test Mol Biomarkers. 2013. PMID: 23738631 Free PMC article. Review.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. Diaz-Horta O, et al. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958875 Free PMC article.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO, Duman D, Zazo Seco C, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M. Yariz KO, et al. Am J Hum Genet. 2012 Nov 2;91(5):872-82. doi: 10.1016/j.ajhg.2012.09.011. Am J Hum Genet. 2012. PMID: 23122586 Free PMC article.