Sally L. Dunwoodie

HeartVar automates variant classification for cardiovascular disease using a hybrid rule-based and LLM approach, achieving 72% accuracy on benchmarked ClinGen variants.

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

The paper identifies DKK1 from neural crest cells as a regulator of Wnt signaling in the second heart field, crucial for cardiac outflow tract development and linked to congenital heart disease.

The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.

The paper identifies impaired NAD metabolism in the yolk sac as a cause of congenital malformations in mice, with implications for human birth defects.

This study benchmarks variant pathogenicity predictors using population genetics data, finding CADD and REVEL as the best performers and highlighting biases in ClinVar-based training.

This study identifies genetic and molecular factors underlying atrial septal defects in mice using QTL mapping and transcriptome analysis, revealing complex networks and non-coding variants involved.

The paper creates an iPSC differentiation atlas and identifies TMEM88 as a regulator of mesendodermal development and blood pressure.

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.