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- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Nat Genet. 2013; 45: 1160-1167
- Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review.J Clin Med. 2020; 10: 23
- Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis.Am J Respir Crit Care Med. 2020; 201: 188-197
- Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease.J Cyst Fibros. 2017; 16: 388-391
- The Extrapulmonary Effects of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis.Ann Am Thorac Soc. 2020; 17: 147-154
- The impact of 12 months treatment with ivacaftor on Scottish paediatric patients with cystic fibrosis with the G551D mutation: a review.Arch Dis Child. 2018; 103: 68-70
- Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp-CFTR mutation after 1 and 2years of treatment with ivacaftor in a real-world setting.J Cyst Fibros. 2018; 17: 89-95
- Worsening anxiety and depression after initiation of lumacaftor/ivacaftor combination therapy in adolescent females with cystic fibrosis.J Cyst Fibros. 2017; 16: 525-527
- Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?.J Cyst Fibros. 2021; ([online ahead of print; doi])https://doi.org/10.1016/j.jcf.2021.09.011
- A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.Human Genetics. 2005; 116: 454-460
- Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.J Biol. Chem. 1996; 271: 21279-21284
- A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.Clin Genet. 1999; 56: 173-175
- Ivacaftor potentiation of multiple CFTR channels with gating mutations.J. Cyst. Fibros. 2012; 11: 237-245
- Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation.J. Cyst. Fibros. 2014; 13: 674-680
- G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.Clin Transl Sci. 2021; 14: 656-663