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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: faino av. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.
Antibiotics and outcomes of CF pulmonary exacerbations in children infected with MRSA and Pseudomonas aeruginosa.
Cogen JD, Hall M, Faino AV, Ambroggio L, Blaschke AJ, Brogan TV, Cotter JM, Gibson RL, Grijalva CG, Hersh AL, Lipsett SC, Shah SS, Shapiro DJ, Neuman MI, Gerber JS. Cogen JD, et al. Among authors: faino av. J Cyst Fibros. 2023 Mar;22(2):313-319. doi: 10.1016/j.jcf.2022.08.001. Epub 2022 Aug 7. J Cyst Fibros. 2023. PMID: 35945130 Free PMC article.
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. Among authors: faino av. 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.
67 results