Patrick Flume to Mutation
This is a "connection" page, showing publications Patrick Flume has written about Mutation.
Connection Strength
1.555
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Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study. Lancet Respir Med. 2021 07; 9(7):733-746.
Score: 0.494
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Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 2012 Sep; 142(3):718-724.
Score: 0.275
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A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus. J Cyst Fibros. 2022 07; 21(4):721-724.
Score: 0.134
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Disease burden in people with cystic fibrosis heterozygous for F508del and a minimal function mutation. J Cyst Fibros. 2022 01; 21(1):96-103.
Score: 0.127
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Advances in bronchiectasis: endotyping, genetics, microbiome, and disease heterogeneity. Lancet. 2018 09 08; 392(10150):880-890.
Score: 0.104
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Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies. Ann Am Thorac Soc. 2018 08; 15(8):897-902.
Score: 0.104
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Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis. J Genet Couns. 2018 09; 27(5):1049-1054.
Score: 0.100
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The delta F508 mutation in cystic fibrosis and impact on sinus development. Am J Rhinol. 2007 Jan-Feb; 21(1):122-7.
Score: 0.046
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Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen. J Mol Diagn. 2006 Feb; 8(1):137-40.
Score: 0.044
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A phase 3 study of tezacaftor in combination with ivacaftor in children aged 6 through 11?years with cystic fibrosis. J Cyst Fibros. 2019 09; 18(5):708-713.
Score: 0.028
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Recovery of lung function following a pulmonary exacerbation in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor. J Cyst Fibros. 2018 01; 17(1):83-88.
Score: 0.024
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Pharmacokinetics and safety of cavosonstat (N91115) in healthy and cystic fibrosis adults homozygous for F508DEL-CFTR. J Cyst Fibros. 2017 May; 16(3):371-379.
Score: 0.023
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Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med. 2015 Jul; 3(7):524-33.
Score: 0.021
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Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. N Engl J Med. 2015 07 16; 373(3):220-31.
Score: 0.021
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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 2005 Nov 15; 14(22):3493-8.
Score: 0.011