ArticleFrontiers in physiology2017
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort:
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Frontiers in physiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 59 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 5 pooled it
9.0field-weighted citation impact, top 2% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
59 citing papers in PubMed, 5 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.Circulation · 2026Pooled it
- 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.The Journal of thoracic and cardiovascular surgery · 2023Guideline
- Guideline
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.Journal of the American College of Cardiology · 2022Guideline
- Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.Heart (British Cardiac Society) · 2022Pooled it
- Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.European journal of human genetics : EJHG · 2019Trial
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.BMC cardiovascular disorders · 2025Article
- Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.European journal of human genetics : EJHG · 2025Article
- Severe Aortic Regurgitation and Ascending Aneurysm in a Patient with Pentacuspid Aortic Valve: Case Report and Review.Journal of cardiovascular development and disease · 2025Article
- Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.NPJ genomic medicine · 2025Article
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- miRNA-Driven Regulation of Endothelial-to-Mesenchymal Transition Differs among Thoracic Aortic Aneurysms.Cells · 2024Article
- Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.Human molecular genetics · 2024Article
- miRNA Regulation of Cell Phenotype and Parietal Remodeling in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms: Differences and Similarities.International journal of molecular sciences · 2024Review
- Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.medRxiv : the preprint server for health sciences · 2024Article
- Early Progression of Abdominal Aortic Aneurysm is Decelerated by Improved Endothelial Barrier Function via ALDH2-LIN28B-ELK3 Signaling.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Clinical interest of molecular study in cases of isolated midline craniosynostosis.European journal of human genetics : EJHG · 2023Article
- Article
- The emerging role of endothelial cells in the pathogenesis of thoracic aortic aneurysm and dissection.European heart journal · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
40 authors at 19 institutions in 9 countries.
Elisabeth GillisFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Ajay A KumarFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Ilse LuyckxFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Christoph PreussCardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada.
Elyssa CannaertsFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Gerarda van de BeekFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Björn WieschendorfFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Maaike AlaertsFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Nikhita BolarFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Geert VandeweyerFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Josephina MeesterFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Florian WünnemannCardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada.
Russell A GouldMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States.
Rustam ZhurayevDepartment of Clinical pathology, Lviv National Medical University after Danylo HalytskyLviv, Ukraine.
Dmytro ZerbinoDepartment of Clinical pathology, Lviv National Medical University after Danylo HalytskyLviv, Ukraine.
Salah A MohamedDepartment of Cardiac and Thoracic Vascular Surgery, University Hospital Schleswig-HolsteinLübeck, Germany.
Seema MitalCardiovascular Research, SickKids University HospitalToronto, ON, Canada.
Luc MertensCardiovascular Research, SickKids University HospitalToronto, ON, Canada.
Hanna M BjörckCardiovascular Medicine Unit, Department of Medicine, Karolinska InstituteStockholm, Sweden.
Anders Franco-CerecedaCardiothoracic Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska InstituteStockholm, Sweden.
Andrew S McCallionMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States.
Lut Van LaerFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Judith M A VerhagenDepartment of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands.
Ingrid M B H van de LaarDepartment of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands.
Marja W WesselsDepartment of Clinical Genetics, Erasmus University Medical CenterRotterdam, Netherlands.
Emmanuel MessasAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France.
Guillaume GoudotAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France.
Michaela NemcikovaDepartment of Biology and Medical Genetics, 2nd Faculty of Medicine-Charles University and Motol University HospitalPrague, Czechia.
Alice KrebsovaInstitute of Clinical and Experimental MedicinePrague, Czechia.
Marlies KempersDepartment of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands.
Simone SaleminkDepartment of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands.
Toon DuijnhouwerDepartment of Human Genetics, Radboud University Medical CentreNijmegen, Netherlands.
Xavier JeunemaitreAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France.
Juliette AlbuissonAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou; Université Paris Descartes, Paris Sorbonne Cité; Institut National de la Santé et de la Recherche Médicale, UMRSParis, France.
Per ErikssonCardiovascular Medicine Unit, Department of Medicine, Karolinska InstituteStockholm, Sweden.
Gregor AndelfingerCardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de MontrealMontreal, QC, Canada.
Harry C DietzMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimore, MD, United States.
Aline VerstraetenFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Bart L LoeysFaculty of Medicine and Health Sciences, Center of Medical Genetics, University of Antwerp and Antwerp University HospitalAntwerp, Belgium.
Mibava Leducq Consortium
University of Antwerp · BEAntwerp University Hospital · BEErasmus MC · NLKarolinska Institutet · SERadboud University Nijmegen · NLCentre Hospitalier Universitaire Sainte-Justine · CADanylo Halytsky Lviv National Medical University · UAJohns Hopkins University · USSickKids Foundation · CACharles University · CZDélégation Paris 5 · FRHôpital Européen · FRHôpital Européen Georges-Pompidou · FRInserm · FRInstitute of Clinical and Experimental Medicine · CZJohns Hopkins Medicine · USUniversité de Montréal · CAUniversity Hospital Schleswig-Holstein · DEUniversity of Lübeck · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence currently suggest that genetic determinants contribute to the pathogenesis of both BAV and TAA in affected individuals. Despite high heritability, only very few genes have been linked to BAV or BAV/TAA, such as
Indexed as
bicuspid aortic valveSMAD6targeted gene panelthoracic aortic aneurysmvariant burden test
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