A. Verstraeten

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Aliases
A Verstraeten, A. Verstraeten, Aline Verstraeten
Publication record
78 papers · 2,324 citations · H-index 26

PAPERS

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals
20251 citationsauthor #15
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
20242 citationsauthor #45
Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome
20243 citationsauthor #7
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
20230 citationsauthor #7
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
20233 citationsauthor #10
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
20230 citationsauthor #9
In search of genetic modifiers that explain the phenotypic variability in SMAD3-related aortopathy
20230 citationsauthor #4
IPSC-derived vascular smooth muscle cell model recapitulates Loeys-Dietz-Syndrome type V aortic phenotype
20231 citationsauthor #4
Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.
20230 citationsauthor #8
The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection
202324 citationsauthor #1
Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant.
20232 citationsauthor #4
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
202320 citationsauthor #4
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient.
20221 citationsauthor #2
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery
202217 citationsauthor #8
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
20224 citationsauthor #2
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
202239 citationsauthor #5
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
202227 citationsauthor #4
Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient.
20221 citationsauthor #2
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
202221 citationsauthor #24
Genome-Wide Epistasis for Cardiovascular Severity in Marfan Study Design: Patient Organization Driven Research
20220 citationsauthor #5
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
20224 citationsauthor #14
The role of biglycan in the healthy and thoracic aneurysmal aorta.
20224 citationsauthor #3
SMAD6-deficiency in human genetic disorders
202225 citationsauthor #2
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) a statement from the HTAD working group of VASCERN.
202214 citationsauthor #26
Corrigendum to: Progress in aorta and peripheral cardiovascular disease research
20211 citationsauthor #11
A dynamic mucin mRNA signature associates with COVID-19 disease presentation and severity
202130 citationsauthor #14
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings
20217 citationsauthor #18
Progress in aorta and peripheral cardiovascular disease research
20216 citationsauthor #11
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
202115 citationsauthor #47
Meester-Loeys Syndrome.
20219 citationsauthor #3
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
20213 citationsauthor #11
Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection.
20206 citationsauthor #1
The Role of Genetics in Risk Stratification of Thoracic Aortic Aneurysm Dissection
20200 citationsauthor #4
Bicuspid Aortic Valve
20200 citationsauthor #1
LOEYS–DIETZ SYNDROME
202082 citationsauthor #1
Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies
20201 citationsauthor #2
Extracellular Matrix in Vascular Disease, Part 2/4: JACC Focus Seminar.
202074 citationsauthor #5
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
202029 citationsauthor #1
Hide and seek: Somatic SMAD3 mutations in melorheostosis
20205 citationsauthor #2
Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
202060 citationsauthor #8
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
201932 citationsauthor #21
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
201935 citationsauthor #22
Surgical Management of Aortic Pathology
20196 citationsauthor #73
Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention.
20195 citationsauthor #4
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics
201951 citationsauthor #11
Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.
20194 citationsauthor #5
Genetics of Marfan Syndrome and Loeys-Dietz Syndrome
20192 citationsauthor #1
Notch Pathway Regulatory Protein MIB1: A Novel Gene For Nonsyndromic Bicuspid Aortic Valve
20190 citationsauthor #13
Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool
20191 citationsauthor #6
Clinical Aspects of Heritable Connective Tissue Disorders
20191 citationsauthor #1
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.
201926 citationsauthor #11
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
20195 citationsauthor #5
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease
201851 citationsauthor #2
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
201834 citationsauthor #18
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
2018143 citationsauthor #39
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
201820 citationsauthor #11
Front Cover
20180 citationsauthor #2
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
201828 citationsauthor #8
ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm
2018117 citationsauthor #18
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
201825 citationsauthor #10
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
201798 citationsauthor #38
Molecular insights into bicuspid aortic valve development and the associated aortopathy
20172 citationsauthor #2
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
201715 citationsauthor #38
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.
2017263 citationsauthor #2
Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history
20179 citationsauthor #10
Non-compaction cardiomyopathy with Ebstein anomaly attributed to a TPM1 mutation
20170 citationsauthor #11
Aetiology and management of hereditary aortopathy
201799 citationsauthor #1
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
201630 citationsauthor #2
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
2016103 citationsauthor #21
Genetic Testing in Thoracic Aortic Disease--When, Why, and How?
201615 citationsauthor #3
Training/Practice Contemporary Issues in Cardiology Practice Genetic Testing in Thoracic Aortic DiseasedWhen, Why,
20160 citationsauthor #3
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
2016141 citationsauthor #1
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.
2015220 citationsauthor #1
TGF-β signalopathies as a paradigm for translational medicine.
201546 citationsauthor #3
Amyloid Pathology Influences Aβ1-42 Cerebrospinal Fluid Levels in Dementia with Lewy Bodies
201354 citationsauthor #5
Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population.
201222 citationsauthor #1
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
201281 citationsauthor #2
Contemporary Issues in Cardiology Practice Genetic Testing in Thoracic Aortic Disease d When , Why , and How ?
year unknown0 citationsauthor #3

TIMELINE

2012 103 citations

2013 54 citations

2015 266 citations

2016 289 citations

2017 486 citations

2018 418 citations

2019 168 citations

2020 257 citations

2021 71 citations

2022 157 citations

2023 50 citations

2024 5 citations

2025 1 citations

Unknown 0 citations

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