Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Aortic Aneurysm, Thoracic  [Clear All Filters]
2020
Musfee, F. I. et al. Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Mol Genet Genomic Med 8, e1406 (2020).
2019
Gould, R. A. et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet 51, 42-50 (2019).
2018
Guo, D. - C. et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
2016
Kuang, S. - Q. et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 126, 948-61 (2016).
Guo, D. - C. et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res 118, 928-34 (2016).
Regalado, E. S. et al. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet 89, 719-23 (2016).
2013
Guo, D. - C. et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 93, 398-404 (2013).
2012
Lindsay, M. E. et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 44, 922-7 (2012).