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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.
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.
Decreased mRNA and protein stability of W1282X limits response to modulator therapy.
Aksit MA, Bowling AD, Evans TA, Joynt AT, Osorio D, Patel S, West N, Merlo C, Sosnay PR, Cutting GR, Sharma N.
Aksit MA, et al.
J Cyst Fibros. 2019 Sep;18(5):606-613. doi: 10.1016/j.jcf.2019.02.009. Epub 2019 Feb 23.
J Cyst Fibros. 2019.
PMID: 30803905
Free PMC article.
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Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.
Lam AN, Aksit MA, Vecchio-Pagan B, Shelton CA, Osorio DL, Anzmann AF, Goff LA, Whitcomb DC, Blackman SM, Cutting GR.
Lam AN, et al. Among authors: osorio dl.
J Clin Invest. 2020 Jan 2;130(1):272-286. doi: 10.1172/JCI129833.
J Clin Invest. 2020.
PMID: 31581148
Free PMC article.
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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR.
Raraigh KS, et al. Among authors: osorio dl.
JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841.
JCI Insight. 2022.
PMID: 35315358
Free PMC article.
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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: osorio dl.
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.
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