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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT, Evans TA, Pellicore MJ, Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio DL, Bowling AD, Cotton CU, Raraigh KS, West NE, Merlo CA, Cutting GR, Sharma N. Joynt AT, et al. Among authors: eastman ac. PLoS Genet. 2020 Oct 21;16(10):e1009100. doi: 10.1371/journal.pgen.1009100. eCollection 2020 Oct. PLoS Genet. 2020. PMID: 33085659 Free PMC article.
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR. Joynt AT, et al. Among authors: eastman ac. Mol Ther Nucleic Acids. 2023 Jun 29;33:335-350. doi: 10.1016/j.omtn.2023.06.020. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547293 Free PMC article.
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Langfelder-Schwind E, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT. Mention K, et al. Among authors: eastman ac. Hum Mol Genet. 2023 Nov 17;32(23):3237-3248. doi: 10.1093/hmg/ddad143. Hum Mol Genet. 2023. PMID: 37649273 Free PMC article.