Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

By C. Castellani, H. Cuppens, M. Macek, J. Cassiman, E. Kerem, P. Durie, E. Tullis, B. Assael, C. Bombieri, A. Brown and 21 more. Journal of Cystic Fibrosis, 2008

620 citations recorded by the source corpus.

Subfields: Genetics, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/d190d0cb98115abb08733b5a621b3facd7c95cb7

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. F. van Goor
2. Sabine Hadida
3. P. Grootenhuis
4. B. Burton
5. J. Stack
6. K. Straley
7. C. Decker
8. Mark Miller

Citations in the corpus

• Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809 (2011, background): “Since the discovery that a loss of CFTR function causes CF (1, 2), there have been efforts to restore CFTR function with gene therapy or drugs to ameliorate the disease (8).”
• Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 (2009, positive): “This indicates that the maximum forskolin-stimulated IT in G551D/ F508del HBE is equivalent to 5 1% of non-CF HBE (n 16), consistent with the low CFTR function and severe CF disease observed in individuals carrying both the G551D and F508del mutations (24).”