Karen S. Raraigh

The paper integrates clinical and primary cell data to show the CFTR function-phenotype relationship is logarithmic, not linear, with greater phenotypic gains at lower baseline function.

This study measures CFTR function in nasal airway cells from CF heterozygotes and controls, finding reduced CFTR activity in heterozygotes regardless of symptoms.

This paper introduces BayPR, a Bayesian method that assigns pathogenicity probabilities to genetic variants using population data, achieving high accuracy for Mendelian disorders.