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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga MT, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M; Undiagnosed Disease Network; Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga MT, et al. Among authors: tekin m. medRxiv [Preprint]. 2025 Jan 3:2025.01.02.24318941. doi: 10.1101/2025.01.02.24318941. medRxiv. 2025. PMID: 39802771 Free PMC article. Preprint.
Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss.
Bernardi MT, Ramzan M, Calderon L, Salvatore F, De Rosa MA, Bivona S, Armando R, Vazquez N, Azcoiti ME, Marti MA, Arberas C, Ropelato MG, Olha S, Lam BL, Telischi FF, Tekin M, Walz K. Bernardi MT, et al. Among authors: tekin m. Adv Genet (Hoboken). 2024 Dec 5;5(4):2400040. doi: 10.1002/ggn2.202400040. eCollection 2024 Dec. Adv Genet (Hoboken). 2024. PMID: 39734360 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. Among authors: tekin m. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Among authors: tekin m. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Yilmaz U, Yildirim Baylan M, Duman D, Sineni C, Bademci G, Sizer B, Tekin M. Yilmaz U, et al. Among authors: tekin m. Ear Nose Throat J. 2024 Nov;103(3_suppl):32S-36S. doi: 10.1177/01455613241287290. Epub 2024 Oct 26. Ear Nose Throat J. 2024. PMID: 39460668 Free article.
580 results