Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

Sangwoo T. Han, András Rab, Matthew J. Pellicore, +11

JCI Insight

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

Allison F. McCague, Karen S. Raraigh, Matthew J. Pellicore, +15

American Journal of Respiratory and Critical Care Medicine

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak, +10

The American Journal of Human Genetics

Allelic VariantGenotype-phenotype AssociationGenetic DisorderGeneticsStatistical Genetics +6

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Melissa Lee, Patrick Roos, Neeraj Sharma, +13

The American Journal of Human Genetics

Sequence MotifFunctional GenomicsSystematic Computational IdentificationGeneticsActivate Exonic +9

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

Neeraj Sharma, Taylor A. Evans, Matthew J. Pellicore, +16

PLoS Genetics

FibrosisMolecular PhysiologyProtein ExpressionMedicinePathology +9

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Melissa Lee, Briana Vecchio-Pagán, Neeraj Sharma, +16

Human Molecular Genetics

GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationRecurrent Hyponatremia +20

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

Briana Vecchio-Pagán, Scott M. Blackman, Melissa Lee, +8

Human Genome Variation

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

Anya T. Joynt, Taylor A. Evans, Matthew J. Pellicore, +13

PLoS Genetics

Intronic VariantsGeneticsRna SplicingMolecular BiologyDisease Gene Identification +15

A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction

Neeraj Sharma, Jessica LaRusch, Patrick R. Sosnay, +12

American Journal of Physiology-Lung Cellular and Molecular Physiology