Concepedia

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Dongchuan Guo, Limin Gong, Ellen S. Regalado, Regie Lyn P. Santos‐Cortez, Bo Wen Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing,

The American Journal of Human Genetics · 2014 · 111 citations · 33 references

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References

33

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Risk factors for aortic dissection: A necropsy study of 161 cases

Eric W. Larson, William D. Edwards · The American Journal of Cardiology · 1984 · 915 citations

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Cellular and molecular analyses of vascular tube and lumen formation in zebrafish

Suk‐Won Jin, Dimitris Beis, Tracy Mitchell et al. · Development · 2005 · 893 citations

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Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 846 citations

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Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

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