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Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Vecchio-Pagán B, Blackman SM, Lee M, Atalar M, Pellicore MJ, Pace RG, Franca AL, Raraigh KS, Sharma N, Knowles MR, Cutting GR. Vecchio-Pagán B, et al. Among authors: pellicore mj. Hum Genome Var. 2016 Nov 24;3:16038. doi: 10.1038/hgv.2016.38. eCollection 2016. Hum Genome Var. 2016. PMID: 27917292 Free PMC article.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. Lee M, et al. Among authors: pellicore mj. Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23. Hum Mol Genet. 2016. PMID: 26911677 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. Among authors: pellicore mj. 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.
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR. McCague AF, et al. Among authors: pellicore mj. Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC. Am J Respir Crit Care Med. 2019. PMID: 30888834 Free PMC article.
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Sharma N, LaRusch J, Sosnay PR, Gottschalk LB, Lopez AP, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR. Sharma N, et al. Among authors: pellicore mj. Am J Physiol Lung Cell Mol Physiol. 2016 Dec 1;311(6):L1170-L1182. doi: 10.1152/ajplung.00363.2016. Epub 2016 Oct 28. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27793802 Free PMC article.
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: pellicore mj. 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.
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