a. Retrospective study based on the California database.
b. Hierarchical modeling of clinical prediction.
c. Developing a Sweat Rate test for infants for more accurately diagnose CF and predict clinical outcome.
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Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition J Cyst Fibros. 2019 Apr 24. . View in PubMed
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Low Beta-Adrenergic Sweat Responses in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome Children Pediatr Allergy Immunol Pulmonol. 2017 Mar 01; 30(1):2-6. . View in PubMed
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate DiagnosesJ Pediatr. 2017 02; 181S:S27-S32. e1. . View in PubMed
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length Genet Test Mol Biomarkers. 2016 Sep; 20(9):496-503. . View in PubMed
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California PLoS One. 2016; 11(5):e0155624. . View in PubMed
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants J Cyst Fibros. 2015 Nov; 14(6):714-9. . View in PubMed
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California J Mol Diagn. 2013 Sep; 15(5):710-22. . View in PubMed
Hyperacidity of secreted fluid from submucosal glands in early cystic fibrosis Am J Physiol Cell Physiol. 2006 Mar; 290(3):C741-9. . View in PubMed
Submucosal gland dysfunction as a primary defect in cystic fibrosis FASEB J. 2005 Mar; 19(3):431-3. . View in PubMed
CFTR involvement in nasal potential differences in mice and pigs studied using a thiazolidinone CFTR inhibitor Am J Physiol Lung Cell Mol Physiol. 2004 Nov; 287(5):L936-43. . View in PubMed
Evidence against the rescue of defective DeltaF508-CFTR cellular processing by curcumin in cell culture and mouse models J Biol Chem. 2004 Sep 24; 279(39):40629-33. . View in PubMed
Discovery of glycine hydrazide pore-occluding CFTR inhibitors: mechanism, structure-activity analysis, and in vivo efficacy J Gen Physiol. 2004 Aug; 124(2):125-37. . View in PubMed