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Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Among authors: diaz horta o. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 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.
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.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M. Bademci G, et al. Among authors: diaz horta o. Genet Med. 2016 Apr;18(4):364-71. doi: 10.1038/gim.2015.89. Epub 2015 Jul 30. Genet Med. 2016. PMID: 26226137 Free PMC article.
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan M, Blanton SH, Tekin M. Bademci G, et al. Among authors: diaz horta o. Sci Rep. 2016 Aug 26;6:31622. doi: 10.1038/srep31622. Sci Rep. 2016. PMID: 27562378 Free PMC article.
44 results