Ellen S Regalado

Author PubWeight™ 20.29‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009 2.50
2 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012 2.50
3 Genetic testing in aortic aneurysm disease: PRO. Cardiol Clin 2010 2.12
4 Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet 2010 2.07
5 Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Cardiovasc Genet 2010 1.55
6 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010 1.49
7 Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet 2011 1.35
8 Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. Genet Med 2010 1.11
9 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 2012 1.02
10 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. Eur J Med Genet 2009 0.87
11 Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A 2012 0.86
12 Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease. J Neurosurg Pediatr 2010 0.82
13 FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 2016 0.78
14 Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. Br J Ophthalmol 2012 0.78
15 Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene. J Thorac Cardiovasc Surg 2010 0.75
16 Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. J Am Coll Cardiol 2017 0.75