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

The Journal of thoracic and cardiovascular surgery, 2015-02, Vol.149 (2), p.S3-S5

2015

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LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

American journal of human genetics, 2018-04, Vol.102 (4), p.706-712

2018

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

American journal of human genetics, 2016-09, Vol.99 (3), p.762-769

2016

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

Journal of vascular surgery, 2020-01, Vol.71 (1), p.149-157

2020

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The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln)

Journal of vascular surgery, 2019-09, Vol.70 (3), p.718-723

2019

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

American journal of human genetics, 2017-01, Vol.100 (1), p.21-30

2017

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

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2437-2443

2010

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Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

PLoS genetics, 2011-06, Vol.7 (6), p.e1002118

2011

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

Journal of thoracic and cardiovascular surgery (Print), 2010-12, Vol.140 (6), p.S2-S4

2010

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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

Circulation research, 2016-03, Vol.118 (6), p.928-934

2016

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

Journal of the American College of Cardiology, 2022-08, Vol.80 (9), p.857-869

2022

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

Circulation research, 2011-09, Vol.109 (6), p.680-686

2011

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RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

Stroke (1970), 2014-11, Vol.45 (11), p.3200-3207

2014

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Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

Journal of the American College of Cardiology, 2017-11, Vol.70 (21), p.2728-2730

2017

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

Journal of medical genetics, 2019-04, Vol.56 (4), p.252-260

2019

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

Journal of vascular surgery, 2019-11, Vol.70 (5), p.1543-1554

2019

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Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

Circulation. Cardiovascular genetics, 2015-06, Vol.8 (3), p.457-464

2015

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

Developmental cell, 2018-04, Vol.45 (2), p.226-244.e8

2018

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

Genetics in medicine, 2020-02, Vol.22 (2), p.427-431

2020

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Genetic Testing in Aortic Aneurysm Disease: PRO

Cardiology clinics, 2010-05, Vol.28 (2), p.191-197

2010

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SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Human mutation, 2015-12, Vol.36 (12), p.1145-1149

2015

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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Genetics in medicine, 2019-01, Vol.21 (1), p.144-151

2019

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

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1054-1060

2019

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

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

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

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

The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln)

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

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

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

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

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

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

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

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

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

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

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

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

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

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

Genetic Testing in Aortic Aneurysm Disease: PRO

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

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

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