Wanda K. O’Neal

The paper characterizes mucin VNTR diversity using long-read genomes and identifies disease associations in cystic fibrosis patients.

The paper identifies region-specific molecular regulatory programs in human distal airways that maintain epithelial identity and mucus homeostasis, revealing mechanisms for mucociliary defense.

This study examines SARS-CoV-2 infection and repair responses in human airway epithelial cells, finding prolonged and incomplete repair linked to long-COVID pulmonary symptoms.

This study identifies airway epithelial host defense defects caused by STAT3 mutations in Hyper IgE Syndrome, contributing to chronic pulmonary infection.

This study develops methods to culture human and animal airway explants for at least 14 days, preserving tissue architecture and enabling study of health, disease, and viral infection.

This study characterizes structural and genetic diversity in MUC5AC and MUC5B using long-read sequencing, revealing haplotype variation and evolutionary patterns across human and nonhuman primate populations.

The paper identifies LG4 enhancers that physically interact with gene promoters via G4:G4 DNA structures and links SNPs in these enhancers to CF lung disease severity.

This study identifies genetic variants associated with sputum mucin concentrations and links one variant to COPD phenotypes like chronic bronchitis and acute exacerbations.

The paper uses CRISPR screens to identify mucins as key host factors that restrict SARS-CoV-2 infection in human lung cells.

This study shows that proteomic data can be linked to specific genomes using pQTL knowledge, highlighting privacy risks and the need for protections similar to genomic data.

The paper improves genotype imputation for CF patients using the TOPMed reference panel and a CF-specific imputation panel, enhancing marker coverage and PRS accuracy.