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Clinics in Chest Medicine|November 7, 2022
Genetics of Cystic Fibrosis: Clinical ImplicationsAnya T Joynt, Garry R Cutting, Neeraj Sharma
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injuryIkeoluwa A Osei-Owusu, Alexis L Norris, Anya T Joynt, et al.
Human Molecular Genetics|August 31, 2023
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282XKaren Mention, Kader Cavusoglu-Doran, Anya T Joynt, et al.
American Journal of Human Genetics|May 29, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable ExpressivityKaren S Raraigh, Sangwoo T Han, Emily Davis, et al.
American Journal of Respiratory Cell and Molecular Biology|July 16, 2024
Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized MedicineAudrey Pion, Erin Kavanagh, Anya T Joynt, et al.
JCI Insight|July 27, 2018
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulatorsSangwoo T Han, Andras Rab, Matthew J Pellicore, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosisErin W Kavanagh, Anya T Joynt, Audrey R Pion, et al.
Molecular Therapy. Nucleic Acids|August 7, 2023
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cellsAnya T Joynt, Erin W Kavanagh, Gregory A Newby, et al.
JCI Insight|May 8, 2026
Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosisErin W Kavanagh, Anya T Joynt, Audrey R Pion, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
Addressing the dNTP bottleneck restricting prime editing activityKarthikeyan Ponnienselvan, Pengpeng Liu, Thomas Nyalile, et al.
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