Angela Mathison

This study uses scRNA-seq to identify decreased retinoic acid signaling in endothelial cells post-Glenn surgery, linking it to accelerated PAVM progression and suggesting dietary vitamin A modification as a potential therapeutic strategy.

This paper classifies EHMT1 variants into structural, dynamic, and combined structural-dynamic categories using computational methods to improve variant interpretation for Kleefstra syndrome.

The paper uses molecular dynamics simulations to analyze 86 KRAS mutations, revealing mutation-specific conformations and functional insights not captured by current genomic tools.

This study investigates how microglia and astrocytes affect neurofilament accumulation in ALS iPSC-derived motor neurons, showing glial-secreted factors influence neurofilament pathology.

The paper identifies a novel alternatively spliced HP1g isoform, sHP1g, lacking the chromoshadow domain, and shows its expression across tissues and dysregulation in cancers.