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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.
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.
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.
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.
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M. Li C, et al. Among authors: diaz horta o. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4. Proc Natl Acad Sci U S A. 2019. PMID: 30610177 Free PMC article.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M. Diaz-Horta O, et al. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113. Epub 2016 May 9. Proc Natl Acad Sci U S A. 2016. PMID: 27162350 Free PMC article.
FOXF2 is required for cochlear development in humans and mice.
Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH, Walter MA, Carlsson P, Walz K, Tekin M. Bademci G, et al. Among authors: diaz horta o. Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. Hum Mol Genet. 2019. PMID: 30561639 Free PMC article.
44 results