ArticleJACC. Basic to translational science2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
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Article in JACC. Basic to translational science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 27 citations in OpenAlex.
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- A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025Article
- NADPH oxidases: redox regulation of cell homeostasis and disease.Physiological reviews · 2025Review
- The WAVE complex in developmental and adulthood brain disorders.Experimental & molecular medicine · 2025Review
- Disulfidptosis, A Novel Cell Death Pathway: Molecular Landscape and Therapeutic Implications.Aging and disease · 2024Review
- Discovering biomarkers associated and predicting cardiovascular disease with high accuracy using a novel nexus of machine learning techniques for precision medicine.Scientific reports · 2024Article
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- The role ofJournal of pharmaceutical analysis · 2023Review
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
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- The cellular architecture and molecular determinants of the zebrafish fusogenic synapse.Developmental cell · 2022Article
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- NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.American journal of human genetics · 2020Article
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Authors and funding
26 authors at 15 institutions in 2 countries.
Jonathan J EdwardsDepartment of Pediatrics, Division of Pediatric Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Andrew D RouillardDepartment of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, LINCS-BD2K DCIC, Icahn School of Medicine at Mount Sinai, New York, New York.
Nicolas F FernandezDepartment of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, LINCS-BD2K DCIC, Icahn School of Medicine at Mount Sinai, New York, New York.
Zichen WangDepartment of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, LINCS-BD2K DCIC, Icahn School of Medicine at Mount Sinai, New York, New York.
Alexander LachmannDepartment of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, LINCS-BD2K DCIC, Icahn School of Medicine at Mount Sinai, New York, New York.
Sunita S ShankaranDepartment of Molecular Physiology and Biophysics, Vanderbilt School of Medicine, Nashville, Tennessee.
Brent W BisgroveMolecular Medicine Program, University of Utah School of Medicine, Salt Lake City, Utah.
Bradley DemarestMolecular Medicine Program, University of Utah School of Medicine, Salt Lake City, Utah.
Nahid TuranCoriell Institute, Camden, New Jersey.
Deepak SrivastavaGladstone Institute of Cardiovascular Disease, San Francisco, California.
Daniel BernsteinDivision of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California.
John DeanfieldDepartment of Cardiology, Great Ormond Street Hospital, University College London, London, United Kingdom.
Alessandro GiardiniDepartment of Cardiology, Great Ormond Street Hospital, University College London, London, United Kingdom.
George PorterDepartment of Pediatrics, University of Rochester Medical Center, University of Rochester School of Medicine and Dentistry, Rochester, New York.
Richard KimSection of Cardiothoracic Surgery, Keck School of Medicine of USC, University of Southern California, Los Angeles, California.
Amy E RobertsDepartment of Cardiology, Children's Hospital Boston, Boston, Massachusetts.
Jane W NewburgerDepartment of Cardiology, Children's Hospital Boston, Boston, Massachusetts.
Elizabeth GoldmuntzDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Martina BruecknerDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut.
Richard P LiftonDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut.
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, Massachusetts.
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, New York.
Martin Tristani-FirouziNora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah School of Medicine, Salt Lake City, Utah.
H Joseph YostMolecular Medicine Program, University of Utah School of Medicine, Salt Lake City, Utah.
Avi Ma'ayanDepartment of Pharmacological Sciences, Mount Sinai Center for Bioinformatics, LINCS-BD2K DCIC, Icahn School of Medicine at Mount Sinai, New York, New York.
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
Icahn School of Medicine at Mount Sinai · USUniversity of Utah · USBoston Children's Hospital · USGreat Ormond Street Hospital · GBHoward Hughes Medical Institute · USYale University · USChildren's Hospital of Philadelphia · USColumbia University Irving Medical Center · USCoriell Institute For Medical Research · USGladstone Institutes · USStanford University · USUniversity of Pennsylvania · USUniversity of Rochester Medical Center · USUniversity of Southern California · USVanderbilt University · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MNHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3MData Coordination and Integration Center for LINCS-BD2KU54HL127624 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI MA'AYAN, AVI, SCHURER, STEPHAN C · 2014 to 2019
$23.5MTraining in Molecular Therapeutics for Pediatric CardiologyT32HL007915 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI Robert J Levy, JOSEPH W ROSSANO · 1999 to 2026
$13.4MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MGenome-wide Analysis of Cardiac Development in ZebrafishU01HL098160 · NHLBI · UNIVERSITY OF UTAH · PI YOST, H. JOSEPH · 2009 to 2014
$8.0MGenomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7MGenetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9MThe Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3MGenomic studies of secundum atrial septal defectsU01HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2009 to 2014
$4.1MMolecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9MGenome-Wide Analysis of Cardiac Development in ZebrafishUM1HL098160 · NHLBI · UNIVERSITY OF UTAH · PI YOST, H. JOSEPH · 2015 to 2019
$3.7MNCATS NIH HHS UL1 TR001863NCI NIH HHS U24 CA224260NHGRI NIH HHS U54 HG006504NHLBI NIH HHS T32 HL007915NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098160NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U54 HL127624NHLBI NIH HHS UM1 HL098123NHLBI NIH HHS UM1 HL098160NIH HHS S10 OD018521
Abstract
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited. To identify causal CHD genes that are associated with specific molecular functions, the study used prior knowledge to filter de novo variants from 2,881 probands with sporadic severe CHD. This approach enabled the authors to identify an association between left ventricular outflow tract obstruction lesions and genes associated with the WAVE2 complex and regulation of small GTPase-mediated signal transduction. Using CRISPR zebrafish knockdowns, the study confirmed that WAVE2 complex proteins
Indexed as
CHD, congenital heart diseasecongenital heart diseaseCORUM, Comprehensive Resource of Mammalian Protein ComplexesCRISPR, clustered regularly interspaced short palindromic repeatsCTD, conotruncal defectGOBP, Gene Ontology biological processesHHE, high heart expressionHLHS, hypoplastic left heart syndromeHTX, heterotaxyLVOTO, left ventricular outflow tract obstructionMGI, Mouse Genome InformaticsPCGC, Pediatric Cardiac Genomics ConsortiumPPI, protein-protein interactionsystems biologytranslational genomics
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