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Page 1
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: sineni cj. Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. Hum Mol Genet. 2019. PMID: 30561639 Free PMC article.
A founder noncoding GALT variant interfering with splicing causes galactosemia.
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G. Latchman K, et al. Among authors: sineni cj. J Inherit Metab Dis. 2020 Nov;43(6):1199-1204. doi: 10.1002/jimd.12293. Epub 2020 Aug 21. J Inherit Metab Dis. 2020. PMID: 32748411
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M. Bademci G, et al. Among authors: sineni cj. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2204084119. doi: 10.1073/pnas.2204084119. Epub 2022 Jun 21. Proc Natl Acad Sci U S A. 2022. PMID: 35727972 Free PMC article.
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, Morton CC, Dykxhoorn DM, Walz K, Tekin M. Bademci G, et al. Among authors: sineni cj. J Clin Invest. 2020 Aug 3;130(8):4213-4217. doi: 10.1172/JCI136951. J Clin Invest. 2020. PMID: 32369452 Free PMC article.
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M, Masih KE, Elcioglu NH, Celik P, Balci O, Cengiz FB, Nunez D, Sineni CJ, Seyhan S, Kocaoglu D, Guo S, Duman D, Bademci G, Tekin M. McSherry M, et al. Among authors: sineni cj. PLoS One. 2018 Nov 30;13(11):e0208324. doi: 10.1371/journal.pone.0208324. eCollection 2018. PLoS One. 2018. PMID: 30500859 Free PMC article.