David Scott Winlaw

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

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.

This study shows H19 upregulation in HLHS impairs mitophagy and increases ischemic vulnerability in immature hearts and cardiomyocytes.

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.

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

The paper identifies a novel APOE+ elastin-producing valve interstitial cell subtype and reveals the APOE-NOTCH signaling axis regulates elastogenesis during human cardiac valve remodeling.

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

The paper screens for DICER1 mutations in TGA patients and finds no apparent pathological mutations.