Patrick John Breheny

This study examines cerebellar development in mouse models with SCN2A premature termination codon variants, finding age- and position-dependent effects on cerebellar structure and function.

This study examines the chronic cardiovascular effects of daunorubicin in Ts65Dn mice, a model of Down syndrome, compared to wild-type mice, finding strain-specific differences in cardiac and vascular function.

The paper identifies GRHL1 as an orofacial cleft risk gene by analyzing conserved transcriptional regulatory networks between zebrafish and human periderm using single-cell multiome sequencing and functional validation.

This study shows that intratumoral plasma cells are essential for CD8+ T cell activation and response to immune checkpoint blockade therapy in MPNSTs.

This study identifies PI3K-regulated TAZ/YAP and mTORC1 pathways in sarcomas and shows that targeting both synergistically reduces tumor growth.

This study shows that brief high-level fluid shear stress exposure enhances cancer cell invasiveness, metastatic potential, and metabolic adaptations that support survival in circulation.

This study identifies genetic and epigenetic factors contributing to cleft laterality using monozygotic twins and replication cohorts, finding methylation differences in ARID5B, ZFP57, and HOOK2 associated with cleft side and severity.

The paper develops EHE primary cell cultures to study the disease's mechanisms and test therapies, finding they exhibit EHE features and respond to TEAD inhibitors.

This study shows that mice experience spontaneous oxygen desaturations and apneas that vary by strain and inspired oxygen level, with desaturations often not linked to apneas.

The paper identifies rare mutations in SIX1, PDGFRA, and KDR/VEGFR2 associated with OAVS phenotypes through whole genome sequencing and statistical analysis of a family.

The paper identifies a regulatory variant near human KRT8/18 by analyzing zebrafish periderm enhancers and predicting the effect of OFC-associated SNPs.