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Target-Enhanced Whole-Genome Sequencing (TE-WGS) Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel.
Lee S, Roh J, Park JS, Tuncay IO, Lee W, Kim JA, Oh BB, Shin JY, Lee JS, Ju YS, Kim R, Park S, Koo J, Park H, Lim J, Connolly-Strong E, Kim TH, Choi YW, Ahn MS, Lee HW, Kim S, Kim JH, Kwon M. Lee S, et al. Among authors: tuncay io. Cancer Res Treat. 2024 Sep 19. doi: 10.4143/crt.2024.114. Online ahead of print. Cancer Res Treat. 2024. PMID: 39300929 Free article.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ; CAUSES Study; Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH. El Hayek L, et al. Among authors: tuncay io. Elife. 2020 Dec 22;9:e56883. doi: 10.7554/eLife.56883. Elife. 2020. PMID: 33350388 Free PMC article.
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Cheon S, Kaur K, Nijem N, Tuncay IO, Kumar P, Dean M, Juusola J, Guillen-Sacoto MJ, Bedoukian E, Ierardi-Curto L, Kaplan P, Schaefer GB, Mishra P, Chahrour MH. Cheon S, et al. Among authors: tuncay io. Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3662-3667. doi: 10.1073/pnas.1818751116. Epub 2019 Feb 11. Proc Natl Acad Sci U S A. 2019. PMID: 30808755 Free PMC article.