Ralph J. Johnson

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.

S. Leal, J. Belmont, J. Coselli, 2010, American journal of human genetics.

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

Robert K. Yu, E. Boerwinkle, J. Grotta, 2009, American journal of human genetics.

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

S. Leal, J. Belmont, J. Coselli, 2011, PLoS genetics.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

S. Leal, J. Seidman, J. Belmont, 2011, Nature Genetics.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

J. Shendure, D. Nickerson, S. Leal, 2015, American journal of human genetics.

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.

Molly S Bray, Suzanne M Leal, S. Leal, 2010, American journal of human genetics.