Fleur Fresquet
Papers
1
Total Citations
3
H-Index
1
About
Fleur Fresquet is a molecular biologist whose work has centered on the genetic and cellular underpinnings of cystic fibrosis (CF), with a particular focus on the CF transmembrane conductance regulator (CFTR). Her most cited study, "Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator" (2011), addresses a critical gap in CF research: the functional characterization of rare, unclassified CFTR mutations that fall outside common therapeutic categories. By systematically analyzing these "orphan" variants, Fresquet has contributed to a deeper understanding of how specific missense changes disrupt CFTR processing, stability, or ion-channel activity—insights that are essential for expanding personalized treatment options for patients with less common genotypes. While her citation count (3) reflects a niche but highly specialized contribution, her work has been instrumental in refining mutation-specific therapies and guiding functional assays used in translational CF research. Fresquet’s dedication to dissecting rare genetic anomalies underscores her role in bridging basic molecular genetics with clinical applications, offering hope for individuals whose mutations are often overlooked in mainstream drug development.
Research Focus
Key Achievements
Top Papers
- 1