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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: west ne. 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.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR. Sharma N, et al. PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30444886 Free PMC article.
Cystic fibrosis transmembrane conductance regulator modulators reduce the risk of recurrent acute pancreatitis among adult patients with pancreas sufficient cystic fibrosis.
Akshintala VS, Kamal A, Faghih M, Cutting GR, Cebotaru L, West NE, Jennings MT, Dezube R, Whitcomb DC, Lechtzin N, Merlo CA, Singh VK. Akshintala VS, et al. Among authors: west ne. Pancreatology. 2019 Dec;19(8):1023-1026. doi: 10.1016/j.pan.2019.09.014. Epub 2019 Sep 28. Pancreatology. 2019. PMID: 31611131
Sex differences in treatment patterns in cystic fibrosis pulmonary exacerbations.
Montemayor K, Psoter KJ, Lechtzin N, Carson SW, Merlo CA, Dezube RH, Riekert KA, Allgood S, Toporek A, Jennings MT, West NE. Montemayor K, et al. Among authors: west ne. J Cyst Fibros. 2021 Nov;20(6):920-925. doi: 10.1016/j.jcf.2021.05.012. Epub 2021 Jun 3. J Cyst Fibros. 2021. PMID: 34090802 Free PMC article.
Indoor air pollution exposure is associated with greater morbidity in cystic fibrosis.
Carson SW, Psoter K, Koehler K, Siklosi KR, Montemayor K, Toporek A, West NE, Lechtzin N, Hansel NN, Collaco JM, Merlo CA. Carson SW, et al. Among authors: west ne. J Cyst Fibros. 2022 Mar;21(2):e129-e135. doi: 10.1016/j.jcf.2021.08.015. Epub 2021 Sep 13. J Cyst Fibros. 2022. PMID: 34531156 Free PMC article.
196 results