Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants

Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?

(2021) Donatello Salvatore et al.   Journal of Cystic Fibrosis

G970R‐CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect

(2020) Meredith C. Fidler et al.   CTS-Clinical and Translational Science

Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review

(2020) Renée V. E. Dagenais et al.   Journal of Clinical Medicine

Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis

(2019) Pierre-Régis Burgel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp- CFTR mutation after 1 and 2 years of treatment with ivacaftor in a real-world setting

(2018) Dominique Hubert et al.   Journal of Cystic Fibrosis

Worsening anxiety and depression after initiation of lumacaftor/ivacaftor combination therapy in adolescent females with cystic fibrosis

(2017) Cameron J. McKinzie et al.   Journal of Cystic Fibrosis

Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease

(2017) Dominique Hubert et al.   Journal of Cystic Fibrosis

The impact of 12 months treatment with ivacaftor on Scottish paediatric patients with cystic fibrosis with the G551D mutation: a review

(2016) Carol Dryden et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

(2014) Kris De Boeck et al.   Journal of Cystic Fibrosis

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Ivacaftor potentiation of multiple CFTR channels with gating mutations

(2012) Haihui Yu et al.   Journal of Cystic Fibrosis