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The clinical utility of sequencing the entirety of CFTR.
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, Cutting GR, Raraigh KS. Sheridan MB, et al. Among authors: aksit ma. J Cyst Fibros. 2024 May 10:S1569-1993(24)00062-6. doi: 10.1016/j.jcf.2024.04.018. Online ahead of print. J Cyst Fibros. 2024. PMID: 38734509
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR. Stonebraker JR, et al. Among authors: aksit ma. Hepatology. 2024 Mar 27. doi: 10.1097/HEP.0000000000000863. Online ahead of print. Hepatology. 2024. PMID: 38536042
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Zhou YH, Gallins PJ, Pace RG, Dang H, Aksit MA, Blue EE, Buckingham KJ, Collaco JM, Faino AV, Gordon WW, Hetrick KN, Ling H, Liu W, Onchiri FM, Pagel K, Pugh EW, Raraigh KS, Rosenfeld M, Sun Q, Wen J, Li Y, Corvol H, Strug LJ, Bamshad MJ, Blackman SM, Cutting GR, Gibson RL, O'Neal WK, Wright FA, Knowles MR. Zhou YH, et al. Among authors: aksit ma. Am J Respir Crit Care Med. 2023 May 15;207(10):1324-1333. doi: 10.1164/rccm.202209-1653OC. Am J Respir Crit Care Med. 2023. PMID: 36921087 Free PMC article.
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: aksit ma. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.
Accurate assignment of disease liability to genetic variants using only population data.
Collaco JM, Raraigh KS, Betz J, Aksit MA, Blau N, Brown J, Dietz HC, MacCarrick G, Nogee LM, Sheridan MB, Vernon HJ, Beaty TH, Louis TA, Cutting GR. Collaco JM, et al. Among authors: aksit ma. Genet Med. 2022 Jan;24(1):87-99. doi: 10.1016/j.gim.2021.08.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906463 Free PMC article.
75 results