Patricia K. Donahoe

This study shows that Svep1 is essential for proper lung development by regulating airway branching and alveolar differentiation in mice.

This study shows that KMT2D's histone methylation activity is essential for proper lung development, with its loss causing hypoplasia and other developmental defects.

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

This study uses scRNA-seq to investigate how AMH protects ovarian cells from doxorubicin toxicity by modulating cell fate and DNA repair mechanisms in different ovarian cell types.

This study reveals the structural basis of AMH procomplex signaling, showing how the prodomain maintains activity through a unique conformational mechanism.

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

This study develops a human airway basal cell model from tracheal aspirates to investigate epithelial defects in congenital diaphragmatic hernia, finding a pro-inflammatory signature and therapeutic response to steroids.

This study constructs a single-cell atlas of the murine ovary by analyzing >34,000 cells across the estrous cycle to characterize cell state dynamics and transcriptional changes.

The paper identifies LONP1 and ALYREF as new candidate risk genes for congenital diaphragmatic hernia through de novo and ultra-rare variant analyses in proband-parent trios and population controls.

The paper analyzes de novo variants in congenital diaphragmatic hernia cases to identify sex differences and a new candidate gene MYRF.