Joseph A. Kitzmiller

This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.

This study compares the maturation pathways of wild-type and disease-associated SP-C mutants, showing divergent trafficking and processing due to mutations.

The paper identifies rare FOXF1 missense variants in PAH patients, shows dysregulated FOXF1 expression in PAH lungs, and identifies downstream targets linked to PAH pathogenesis.

The paper constructs a single-cell reference atlas for human and mouse lung tissues to improve cell type annotation and data integration.

The paper describes the LungMAP Portal Ecosystem, a centralized resource integrating multi-omics and imaging data across species to enable standardized analysis of lung biology and disease.

This study shows that blocking inflammation in preterm primates prevents lung injury, preserving alveolar structure and function similar to chronic lung disease in newborns.

The paper introduces a web toolset called Lung-at-a-glance to integrate and visualize lung ontology, imaging, and single-cell omics data.