ArticleNature genetics2019
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
Open access · goldAbstract read
In one paragraph
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed, 1 pooled it
10.7field-weighted citation impact, top 1% 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
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 151 citations in OpenAlex.
- Prevalence of Intracranial Aneurysm in Patients with Aortopathy: A Systematic Review with Meta-Analyses.Journal of stroke · 2020Pooled it
- Review
- Rare regulatory mutations disrupt mesenchymal molecular programs driving endocardial cushion formation in bicuspid aortic valve.Nature communications · 2026Article
- Endothelial to mesenchymal transition in cardiovascular diseases: molecular insights and clinical perspectives.European heart journal · 2026Review
- Leveraging in-silico deep learning and computational analyses to predict the pathogenicity of ROBO4 variants of uncertain significance in aortic aneurysm and dissection patients.BMC cardiovascular disorders · 2026Article
- Mitochondrial dysfunction in aortic aneurysm and dissection: mechanisms and therapeutic implications.Frontiers in pharmacology · 2026Review
- Congenital Coarctation of the Aorta in a Patient WithAnnals of internal medicine. Clinical cases · 2026Article
- The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.Pediatric research · 2025Article
- 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
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Valvular Endothelial Cell Heterogeneity Reflects Different Pathogenesis of Tricuspid and Bicuspid Aortic Valve Stenosis in Humans.Journal of the American Heart Association · 2025Article
- Endothelial Cell Senescence in Marfan Syndrome: Pathogenesis and Therapeutic Potential of TGF-β Pathway Inhibition.Journal of the American Heart Association · 2025Article
- Navigating the Landscape of Translational Medicine of Calcific Aortic Valve Disease: Bridging Bench to Bedside.JACC. Asia · 2025Review
- PP2A Attenuates Thoracic Aneurysm and Dissection in Mouse Models of Marfan Syndrome.Hypertension (Dallas, Tex. : 1979) · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?Frontiers in cardiovascular medicine · 2025Review
- Olfactory Receptors and Aortic Aneurysm: Review of Disease Pathways.Journal of clinical medicine · 2024Review
- Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.Disease models & mechanisms · 2024Article
- Site-specific genetic and functional signatures of aortic endothelial cells at aneurysm predilection sites in healthy and AngII ApoEAngiogenesis · 2024Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
45 authors at 18 institutions in 6 countries.
Russell A Gould *McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Hamza Aziz *McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Courtney E Woods *McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Manuel Alejandro Seman-SenderosMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Elizabeth SparksMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Christoph PreussCardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.
Florian WünnemannCardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-0978-6076
Djahida BedjaDepartment of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Cassandra R MoatsDepartment of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sarah A McClymontCenter for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Rebecca RoseMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Hua LingCenter for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Gretchen MacCarrickMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ajay Anand KumarCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
Ilse LuyckxCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.ORCID http://orcid.org/0000-0002-9668-0535
Elyssa CannaertsCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
Aline VerstraetenCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
Hanna M BjörkCenter for Molecular Medicine, Department of Medicine Solna, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden.
Ann-Cathrin LehsauDepartment of Cardiac and Thoracic Vascular Surgery, University Hospital Lübeck, Lübeck, Germany.
Vinod Jaskula-RangaWilmer Eye Institute in the Department of Ophthalmology at the Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Henrik LauridsenThe Nancy E. and Peter C. Meinig School of Biomedical Engineering, Cornell University, Ithaca, NY, USA.ORCID http://orcid.org/0000-0002-8833-4456
Asad A ShahRex Hospital, Raleigh, NC, USA.
Christopher L BennettMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Patrick T EllinorThe Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Honghuang LinSection of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3043-3942
Eric M IsselbacherThoracic Aortic Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Christian Lacks Lino CardenasCardiovascular Research Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5491-4375
Jonathan T ButcherThe Nancy E. and Peter C. Meinig School of Biomedical Engineering, Cornell University, Ithaca, NY, USA.
G Chad HughesDivision of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, NC, USA.
Mark E LindsayThoracic Aortic Center and Cardiovascular Genetics Program, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Baylor-Hopkins Center for Mendelian Genomics
MIBAVA Leducq Consortium
Luc MertensDivision of Cardiology, The Hospital for Sick Children, Labatt Family Heart Centre, Toronto, Ontario, Canada.
Anders Franco-CerecedaDepartment of Molecular Medicine and Surgery, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden.
Judith M A VerhagenDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-0340-3433
Marja WesselsDepartment of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Salah A MohamedDepartment of Cardiac and Thoracic Vascular Surgery, University Hospital Lübeck, Lübeck, Germany.
Per ErikssonCenter for Molecular Medicine, Department of Medicine Solna, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden.
Seema MitalDepartment of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-7643-4484
Lut Van LaerCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
Bart L LoeysCenter for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
Gregor AndelfingerThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0002-9047-0502
Andrew S McCallionMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. andy@jhmi.edu.ORCID http://orcid.org/0000-0002-0016-8466
Harry C DietzMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hdietz@jhmi.edu.ORCID http://orcid.org/0000-0002-6856-0165
Johns Hopkins University · USUniversity of Antwerp · BEHoward Hughes Medical Institute · USHarvard University · USKarolinska University Hospital · SECentre Hospitalier Universitaire Sainte-Justine · CACornell University · USUniversity of Lübeck · DEUniversity of Toronto · CABoston University · USBroad Institute · USDuke Medical Center · USErasmus MC · NLHospital for Sick Children · CAJackson Laboratory · USOregon National Primate Research Center · USRadboud University Nijmegen · NLRex Hospital · US
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MPredoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6MSleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI S. Ali Fatemi, Bradley L Schlaggar · 2020 to 2026
$9.9MBiomechanical regulation of valvulogenesisR01HL110328 · NHLBI · CORNELL UNIVERSITY · PI BUTCHER, JONATHAN TALBOT · 2011 to 2015
$1.9MAdhesive signaling in aortic valve development and diseaseR01HL128745 · NHLBI · CORNELL UNIVERSITY · PI BUTCHER, JONATHAN TALBOT · 2015 to 2018
$1.5MAcquisition of a Nano Computed Tomography Instrument for shared Cornell Imaging fS10OD012287 · OD · CORNELL UNIVERSITY · PI HERNANDEZ, CHRISTOPHER JOHN · 2013 to 2013
$755kHoward Hughes Medical InstituteNHGRI NIH HHS U54 HG006542NHLBI NIH HHS R01 HL110328NHLBI NIH HHS R01 HL128745NICHD NIH HHS P50 HD103538NIGMS NIH HHS T32 GM007814NIH HHS S10 OD012287
Abstract
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1-2%)
Indexed as
AnimalsAortic Aneurysm, ThoracicAortic ValveBicuspid Aortic Valve DiseaseCells, CulturedDisease Models, AnimalEndothelial CellsFemaleHeart Valve DiseasesHumansMaleMiceMice, Inbred C57BLMice, KnockoutMutationPhenotypeReceptors, Cell SurfaceROBO4 protein, humanRoundabout Proteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.