Shirley C. Sutton

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.

The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.

The paper investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.

This paper develops a high-throughput method to generate host and pathogen genomic data from single nasopharyngeal swabs of COVID-19 patients.

The paper develops and validates a targeted RNAseq panel (Fusion-STAMP) for detecting gene fusions in solid tumors, showing high sensitivity and specificity.

This paper demonstrates that allele-specific RNAi therapy reduces disease-causing mutations in a mouse model of restrictive cardiomyopathy, improving cardiac function and reducing pathological markers.

The paper identifies genetic loci associated with the seasonal onset of hibernation in 13-lined ground squirrels, finding high heritability and significant associations with genes involved in energy homeostasis and insulin signaling.