Ellen S. Regalado

发表

Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms

S. Shete, D. Milewicz, D. Guo, 2011, American journal of medical genetics. Part A.

Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.

E. Boerwinkle, K. Eagle, S. Lemaire, 2016, American journal of human genetics.

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

M. Rieder, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

D. Nickerson, S. Leal, M. Bamshad, 2018, American journal of human genetics.

Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy

D. Milewicz, Jiumei Cao, Christina L. Papke, 2010, Genetics in Medicine.

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.

R. Pfundt, B. D. de Vries, D. Nickerson, 2017, 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.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Edward R. Smith, D. Nickerson, M. Bamshad, 2019, Genetics in Medicine.

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

Gao T. Wang, J. Shendure, D. Nickerson, 2014, Stroke.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

G. Vriend, G. Pals, D. Milewicz, 2015, Human mutation.

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Jay Shendure, Mathilde Varret, Catherine Boileau, 2012, Nature Genetics.

Mutations in myosin light chain kinase cause familial aortic dissections.

S. Shete, D. Milewicz, J. Elefteriades, 2010, American journal of human genetics.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

R. Nussbaum, T. Callis, M. Vatta, 2022, JAMA cardiology.

Molecular Genetics of Aortic Aneurysms and Aortic Dissections

D. Milewicz, E. Regalado, Ellen S. Regalado, 2015 .

Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms With a Low Risk for Progression to Aortic Dissection

S. Shete, D. Milewicz, D. Guo, 2011, Circulation. Cardiovascular genetics.

Genetic testing in aortic aneurysm disease: PRO.

D. Milewicz, E. Regalado, Alicia A. Carlson, 2010, Cardiology clinics.

Genes Predisposing to Thoracic Aortic Aneurysms and Dissections: Associated Phenotypes, Gene-Specific Management, and Genetic Testing

D. Milewicz, E. Regalado, Alicia A. Carlson, 2013 .

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

M. Rieder, J. Shendure, D. Nickerson, 2011, Circulation research.

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

J. Shendure, D. Nickerson, M. Bamshad, 2016, Clinical genetics.

Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

D. Milewicz, E. Regalado, Ellen S. Regalado, 2015, The Journal of thoracic and cardiovascular surgery.

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

J. Coselli, S. Lemaire, D. Milewicz, 2015, Circulation. Cardiovascular genetics.

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

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

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.

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Corey L. Reynolds, J. Shendure, D. Nickerson, 2016, The Journal of clinical investigation.

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.

P. Byers, D. Milewicz, D. Coleman, 2019, Journal of vascular surgery.

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.

P. Byers, D. Milewicz, D. Coleman, 2019, Journal of vascular surgery.

Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease.

D. Milewicz, M. Bhattacharjee, R. Dauser, 2010, Journal of neurosurgery. Pediatrics.

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

M. Gross, D. Milewicz, D. Guo, 2014, American journal of human genetics.

Thoracic Aortic Aneurysms and Aortic Dissections

D. Milewicz, E. Regalado, Ellen S. Regalado, 2012 .

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

J. Shendure, D. Nickerson, S. Leal, 2016, Circulation research.

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

S. Lemaire, R. Jeremy, D. Milewicz, 2016, Circulation. Cardiovascular genetics.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

M. Jahangiri, E. Behr, M. Simpson, 2017, bioRxiv.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

S. Leal, D. Milewicz, D. Guo, 2019, Journal of Medical Genetics.

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Michael F. Wangler, Nele A. Haelterman, D. Nickerson, 2018, Developmental cell.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

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

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

D. Milewicz, L. Ala‐Kokko, Lawrence Buja, 2010, American journal of medical genetics. Part A.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

J. Coselli, S. Lemaire, J. Towbin, 2010, European journal of medical genetics.

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.

M. Pariani, A. Rideout, Madeline Graf, 2019, The Medical clinics of North America.

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.

S. Lemaire, R. Jeremy, D. Milewicz, 2022, Journal of the American College of Cardiology.

Heritable Thoracic Aortic Disease Overview

D. Milewicz, E. Regalado, Ellen S. Regalado, 2016 .

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

David T. Miller, D. Milewicz, A. Lin, 2013, American journal of medical genetics. Part A.

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

M. Tekin, B. Lorenz, D. Milewicz, 2018, Genetics in Medicine.

Acute aortic dissections with pregnancy in women with ACTA2 mutations

D. Milewicz, D. Guo, L. Buja, 2014, American journal of medical genetics. Part A.

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

D. Saunders, D. Milewicz, T. Jacques, 2012, Brain : a journal of neurology.

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection.

D. Nickerson, S. Leal, S. Lemaire, 2017, Journal of the American College of Cardiology.

Erratum: Mutations in myosin light chain kinase cause familial aortic dissections (American Journal of Human Genetics (2010) 87 (701-707))

S. Shete, D. Milewicz, J. Elefteriades, 2011 .

Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene.

D. Milewicz, D. Guo, E. Regalado, 2010, The Journal of thoracic and cardiovascular surgery.

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

J. Shendure, D. Nickerson, D. Milewicz, 2014, Trends in cardiovascular medicine.

MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

S. Leal, D. Milewicz, D. Guo, 2018, Genetics in Medicine.

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

D. Nickerson, J. Coselli, S. Lemaire, 2019, European Journal of Human Genetics.

Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.

D. Milewicz, J. Stull, K. Trybus, 2017, Arteriosclerosis, thrombosis, and vascular biology.

MAT2A mutations predispose individuals to thoracic aortic aneurysms.

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

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

D. Milewicz, Lawrence Buja, L. Adès, 2010, American journal of medical genetics. Part A.

Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?

D. Milewicz, D. Guo, Lili Xu, 2019, Circulation. Genomic and precision medicine.

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.

Perinatal transfer of genetic information: developing an algorithm for reporting cystic fibrosis prenatal test results to the newborn screening program

K. Pass, E. Regalado, E. Langfelder-Schwind, 2008, Genetics in Medicine.

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

Edward R. Smith, Jayashree Kalpathy-Cramer, D. Milewicz, 2020, Neurology.

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

D. Saunders, D. Milewicz, T. Jacques, 2012, Brain : a journal of neurology.

Using Genetics for Personalized Management of Heritable Thoracic Aortic Disease: How Do We Get There?

D. Milewicz, E. Regalado, Ellen S. Regalado, 2015 .

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

H. Fledelius, D. Milewicz, E. Regalado, 2012, British Journal of Ophthalmology.

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility

K. Eagle, C. Willer, D. Milewicz, 2022, American journal of medical genetics. Part A.

International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVE

S. Lemaire, R. Jeremy, D. Milewicz, 2016 .

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

D. Nickerson, J. Coselli, S. Lemaire, 2019, European Journal of Human Genetics.