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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: findlay sd. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
Regulatory features aid interpretation of 3'UTR variants.
Romo L, Findlay SD, Burge CB. Romo L, et al. Among authors: findlay sd. Am J Hum Genet. 2024 Feb 1;111(2):350-363. doi: 10.1016/j.ajhg.2023.12.017. Epub 2024 Jan 17. Am J Hum Genet. 2024. PMID: 38237594 Free PMC article.
RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastoma.
Zhou J, Kong YS, Vincent KM, Dieters-Castator D, Bukhari AB, Glubrecht D, Liu RZ, Quilty D, Findlay SD, Huang X, Xu Z, Yang RZ, Zhang L, Tang E, Lajoie G, Eisenstat DD, Gamper AM, Fahlman R, Godbout R, Postovit LM, Fu Y. Zhou J, et al. Among authors: findlay sd. Mol Oncol. 2023 Sep;17(9):1763-1783. doi: 10.1002/1878-0261.13434. Epub 2023 Apr 22. Mol Oncol. 2023. PMID: 37057706 Free PMC article.
108 results