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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.
SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.
Eastman AC, Pace RG, Dang H, Aksit MA, Vecchio-Pagán B, Lam AN, O'Neal WK, Blackman SM, Knowles MR, Cutting GR.
Eastman AC, et al.
J Cyst Fibros. 2021 Sep;20(5):851-856. doi: 10.1016/j.jcf.2021.02.007. Epub 2021 Mar 2.
J Cyst Fibros. 2021.
PMID: 33674211
Free PMC article.
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Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.
Bowling A, Eastman A, Merlo C, Lin G, West N, Patel S, Cutting G, Sharma N.
Bowling A, et al.
J Pers Med. 2022 Sep 1;12(9):1448. doi: 10.3390/jpm12091448.
J Pers Med. 2022.
PMID: 36143233
Free PMC article.
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Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Aksit MA, Ling H, Pace RG, Raraigh KS, Onchiri F, Faino AV, Pagel K, Pugh E, Stilp AM, Sun Q, Blue EE, Wright FA, Zhou YH, Bamshad MJ, Gibson RL, Knowles MR, Cutting GR, Blackman SM; CF Genome Project.
Aksit MA, et al.
Am J Hum Genet. 2022 Oct 6;109(10):1894-1908. doi: 10.1016/j.ajhg.2022.09.004.
Am J Hum Genet. 2022.
PMID: 36206743
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: 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.
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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.
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The Caenorhabditis elegans SMOC-1 Protein Acts Cell Nonautonomously To Promote Bone Morphogenetic Protein Signaling.
DeGroot MS, Shi H, Eastman A, McKillop AN, Liu J.
DeGroot MS, et al.
Genetics. 2019 Feb;211(2):683-702. doi: 10.1534/genetics.118.301805. Epub 2018 Dec 5.
Genetics. 2019.
PMID: 30518528
Free PMC article.
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