Trial reportNature genetics2020
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Open access · greenAbstract readClinical Trial
In one paragraph
Trial report in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
117citing papers in PubMed, 2 pooled it
8.2field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
117 citing papers in PubMed, 2 syntheses or guidelines pooled it, 176 citations in OpenAlex.
- Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.Circulation. Genomic and precision medicine · 2023Pooled it
- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.Nature communications · 2022Pooled it
- A cardiac-related, promoter-proximal, regulatory element shapes chromatin and JAG1 transcription.Life science alliance · 2026Article
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Cardiac Organoids for Modeling Congenital Heart Disease: From Genetic Discovery to Therapeutic Screening.Current cardiology reports · 2026Review
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Massively parallel characterization and predictive modelling of neuronal regulatory variation.bioRxiv : the preprint server for biology · 2026Article
- Functional noncoding variants within the TBX1 enhancer contribute to tetralogy of Fallot.Science China. Life sciences · 2026Article
- Decoding common and rare noncoding variant effects across cellular and developmental contexts.Nature genetics · 2026Article
- Cardiac epigenome in heart development and disease.Nature reviews. Cardiology · 2026Review
- Article
- Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes.bioRxiv : the preprint server for biology · 2026Article
- Enhancer Dynamics for Gene Regulation in the Cardiovascular System.Arteriosclerosis, thrombosis, and vascular biology · 2026Review
- Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.Bioinformatics (Oxford, England) · 2026Article
- The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.Genome research · 2026Article
- Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants.Research square · 2026Article
- Comprehensive perturbation of transcription factors in human cardiomyocytes reveals the regulatory architecture of congenital heart disease.bioRxiv : the preprint server for biology · 2026Article
- Phenotypic spectrum and molecular characteristics of variants of uncertain significance in copy number variations associated with fetal cardiac malformations: a case series of 9 patients.Frontiers in pediatrics · 2026Article
- Functional architecture of cardiac TF regulatory landscapes in control of mammalian heart development.bioRxiv : the preprint server for biology · 2025Article
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
57 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
35 authors at 20 institutions in 3 countries.
Felix Richter *Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-3429-9621
Sarah U Morton *Department of Pediatrics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7816-2646
Seong Won Kim *Department of Genetics, Harvard Medical School, Boston, MA, USA.
Alexander Kitaygorodsky *Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY, USA.
Lauren K Wasson *Department of Genetics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-5193-5215
Kathleen M Chen *Flatiron Institute, Simons Foundation, New York, NY, USA.ORCID http://orcid.org/0000-0002-7461-9530
Jian ZhouFlatiron Institute, Simons Foundation, New York, NY, USA.ORCID http://orcid.org/0000-0002-3721-4550
Hongjian QiDepartments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY, USA.
Nihir PatelDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4253-3097
Steven R DePalmaDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0381-5016
Michael ParfenovDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Jason HomsyDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Joshua M GorhamDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Kathryn B ManheimerGraduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Matthew VelinderDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.
Andrew FarrellDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.
Gabor MarthDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0003-0222-1694
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-7892-8808
Jonathan R KaltmanHeart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, MD, USA.
Jane W NewburgerBoston Children's Hospital, Boston, MA, USA.
Alessandro GiardiniCardiorespiratory Unit, Great Ormond Street Hospital, London, UK.
Elizabeth GoldmuntzDivision of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-2936-4396
Martina BruecknerDepartments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-0347-5389
Richard KimChildren's Hospital Los Angeles, Los Angeles, CA, USA.
George A PorterDepartment of Pediatrics, University of Rochester, Rochester, NY, USA.ORCID http://orcid.org/0000-0003-0726-9988
Daniel BernsteinDepartment of Pediatrics, Stanford University, Palo Alto, CA, USA.ORCID http://orcid.org/0000-0001-7761-5853
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
Deepak SrivastavaGladstone Institute of Cardiovascular Disease and University of California San Francisco, San Francisco, CA, USA.
Martin Tristani-FirouziDivision of Pediatric Cardiology, University of Utah School of Medicine, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0001-5916-442X
Olga G TroyanskayaFlatiron Institute, Simons Foundation, New York, NY, USA.
Diane E DickelEnvironmental Genomics and Systems Biology Division, Lawrence Berkeley National Lab, Berkeley, CA, USA.ORCID http://orcid.org/0000-0001-5497-6824
Yufeng ShenDepartments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-1299-5979
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA, USA.
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6380-1209
Bruce D GelbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. bruce.gelb@mssm.edu.ORCID http://orcid.org/0000-0001-8527-5027
Harvard University · USUniversity of Utah · USColumbia University · USBoston Children's Hospital · USIcahn School of Medicine at Mount Sinai · USPrinceton University · USSema4 (United States) · USBrigham and Women's Hospital · USChild Health and Development Institute · USChildren's Hospital of Los Angeles · USChildren's Hospital of Philadelphia · USColumbia University Irving Medical Center · USGladstone Institutes · USGreat Ormond Street Hospital · GBLawrence Berkeley National Laboratory · USNational Heart Lung and Blood Institute · USPalo Alto University · USSimons Foundation · USUniversity of Rochester · USYale 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
$102.9MGMKF competing renewalU24HD090743 · NICHD · BROAD INSTITUTE, INC. · PI Stacey Gabriel · 2016 to 2026
$68.3MAdministrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics ConsortiaU01HL131003 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI CNOTA, JAMES, OLLBERDING, NICHOLAS J · 2016 to 2024
$54.8MThe Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso · 2019 to 2026
$51.2MUtah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MMOUNT SINAI MEDICAL SCIENTIST TRAINING PROGRAMT32GM007280 · NIGMS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI BARON, MARGARET H · 1985 to 2021
$22.8MCARDIOGENESIS--MOLECULAR MECHANISMSR01HL057181 · NHLBI · UNIVERSITY OF TEXAS SW MED CTR/DALLAS · PI DEEPAK SRIVASTAVA · 1997 to 2026
$14.0MGenomic 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
$6.7Mlntegration and Visualization of Diverse Biological DataR01GM071966 · NIGMS · PRINCETON UNIVERSITY · PI TROYANSKAYA, OLGA G · 2005 to 2022
$6.4MRegulation of Cardiac Development in Health and DiseaseUM1HL098166 · NHLBI · HARVARD MEDICAL SCHOOL · PI PENNACCHIO, LEN ALEXANDER, PU, WILLIAM TSWENCHING · 2015 to 2019
$4.4MThe Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3MGenome-Wide Resources for Transcriptional Enhancers Active in the Human HeartR24HL123879 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI PENNACCHIO, LEN ALEXANDER, VISEL, AXEL · 2015 to 2019
$3.9MHoward Hughes Medical InstituteNCATS NIH HHS U2C TR002818NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR002538NHLBI NIH HHS R01 HL057181NHLBI NIH HHS R03 HL138352NHLBI NIH HHS R03 HL147197NHLBI NIH HHS R24 HL123879NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL131003NHLBI NIH HHS UM1 HL098123NHLBI NIH HHS UM1 HL098147NHLBI NIH HHS UM1 HL098162NHLBI NIH HHS UM1 HL098166NHLBI NIH HHS UM1 HL128711NHLBI NIH HHS UM1 HL128761NHLBI NIH HHS UM1 HL172717NICHD NIH HHS T32 HD075735NICHD NIH HHS U24 HD090743NIGMS NIH HHS R01 GM071966NIGMS NIH HHS R01 GM120609NIGMS NIH HHS T32 GM007280NIH HHS S10 OD018522NIH HHS S10 OD026880
Abstract
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios. Neural network prediction of noncoding DNV transcriptional impact identified a burden of DNVs in individuals with CHD (n = 2,238 DNVs) compared to controls (n = 4,177; P = 8.7 × 10
Indexed as
AdolescentAdultAnimalsFemaleGenetic Predisposition to DiseaseGenetic VariationGenomicsHeartHeart Defects, CongenitalHumansMaleMiceMiddle AgedOpen Reading FramesRNA-Binding ProteinsRNA, UntranslatedRNA-Binding ProteinsRNA, Untranslated
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