Sarah A. Pendergrass

The paper identifies genetic variants associated with obstructive sleep apnea using electronic health records and links them to comorbidities.

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

This study simulates PheWAS to assess how sample size, case-control ratio, minor allele frequency, and disease penetrance affect statistical power for binary and quantitative traits.

The paper evaluates imputation methods for missing structured data in EHRs using clinical lab measures from 602,366 patients, showing some methods perform well while others are unsuitable for multiple imputation.