Donna M. Brown

The paper identifies germline and somatic genetic variants and molecular signatures in placental chorangiomas from monochorionic twins, linking them to hypoxia, angiogenesis, and oxidative stress.

VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

ClinPhen automatically extracts and prioritizes patient phenotypes from medical records to improve genetic disease diagnosis efficiency.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.