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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