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Page 1
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.
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.
Whole-exome sequencing and its impact in hereditary hearing loss.
Atik T, Bademci G, Diaz-Horta O, Blanton SH, Tekin M. Atik T, et al. Among authors: diaz horta o. Genet Res (Camb). 2015 Mar 31;97:e4. doi: 10.1017/S001667231500004X. Genet Res (Camb). 2015. PMID: 25825321 Free PMC article. Review.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Among authors: diaz horta o. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.
GPSM2 mutations in Chudley-McCullough syndrome.
Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. Diaz-Horta O, et al. Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987632 Free PMC article. No abstract available.
SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. Tekin M, et al. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543054 Free PMC article.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Walz K, et al. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21. Hum Genet. 2015. PMID: 25413698 Clinical Trial.
44 results