L. Weiss

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

Bruno Costes, E. Girodon, M. Goossens, 2010, PLoS genetics.

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.

B. Kerem, P. Reix, P. Burgel, 2023, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.

I. Sermet-Gaudelus, M. Audrézet, E. Girodon, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Lumacaftor/Ivacaftor Population Pharmacokinetics in Pediatric Patients with Cystic Fibrosis: A First Step Toward Personalized Therapy.

S. Urien, N. Bouazza, J. Treluyer, 2024, Clinical pharmacokinetics.

Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription

P. Reix, A. Guillaumot, I. Sermet-Gaudelus, 2023, European Respiratory Journal.

Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint

A. Guillaumot, R. Nove-Josserand, R. Kanaan, 2024, European Respiratory Journal.