Author

D. Milewicz

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Open access Sep 2026

Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease

Background: Thoracic aortic aneurysms enlarge silently and can cause fatal aortic dissection without timely surgical repair, underscoring the need for improved approaches to identify individuals at high risk. Rare pathogenic variants in established heritable thoracic aortic disease (HTAD) genes explain only a subset of...

David R. Murdock, Pu-Jun Guan, Dong-Chuan Guo et al. · medRxiv · 0 citations

Review Open access Sep 2026

Thoracic aortic disease: prognostic role of gene variants and polygenic risk scores.

P/LP HTAAD gene variants confer a substantial population-level increased risk of TAAD, suggesting that integrating monogenic and polygenic risks has the potential to enhance patient risk stratification and treatment.

J. DePaolo, D. Smelser, Dong-Chuan Guo et al. · European Heart Journal · 0 citations

Open access Sep 2026

Thoracic Aortic Disease in Genetic Syndromes Beyond Established Aortopathy Genes

Background: Heritable thoracic aortic aneurysms and dissections (HTAD) are caused by rare variants in up to 42 genes, but many affected individuals and families remain genetically unsolved. We sought to determine if aortic phenotypes occurred in cases with de novo pathogenic variants in known syndromic genes. Methods:...

D. Murdock, B. McGivern, D. Guo et al. · medRxiv · 0 citations