|
Zhou, Yi-Hui; Marron, J S; Wright, Fred A (2018) Eigenvalue significance testing for genetic association. Biometrics 74:439-447
|
|
Oliver, Kathryn E; Han, Sangwoo T; Sorscher, Eric J et al. (2017) Transformative therapies for rare CFTR missense alleles. Curr Opin Pharmacol 34:76-82
|
|
Lee, Melissa; Roos, Patrick; Sharma, Neeraj et al. (2017) Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. Am J Hum Genet 100:751-765
|
|
Veit, Gudio; Avramescu, Radu G; Chiang, Annette N et al. (2016) From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations. Mol Biol Cell 27:424-33
|
|
Lee, Melissa; Vecchio-Pagán, Briana; Sharma, Neeraj et al. (2016) Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. Hum Mol Genet 25:1923-1933
|
|
Vecchio-Pagán, Briana; Blackman, Scott M; Lee, Melissa et al. (2016) Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits. Hum Genome Var 3:16038
|
|
Sosnay, Patrick R; Castellani, Carlo; Penland, Christopher M et al. (2016) Bias in CFTR screening panels. Genet Med 18:209
|
|
Gottschalk, Laura B; Vecchio-Pagan, Briana; Sharma, Neeraj et al. (2016) Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants. J Cyst Fibros 15:285-94
|
|
Sharma, Neeraj; LaRusch, Jessica; Sosnay, Patrick R et al. (2016) A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction. Am J Physiol Lung Cell Mol Physiol 311:L1170-L1182
|
|
Cutting, Garry R (2015) Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet 16:45-56
|
Showing the most recent 10 out of 46 publications
