ArticleNature cardiovascular research2022
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Erratum issuedAbstract read
In one paragraph
Article in Nature cardiovascular research, 2022. 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 42 papers.
0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
–field-weighted citation impact
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
42 citing papers in PubMed.
- Epigenetic and chromatin remodeling mechanisms across cardiomyopathies: a comprehensive review.Epigenetics & chromatin · 2026Review
- BK Channels Orchestrate Cardiac Homeostasis Through Mitochondrial Uncoupling Proteins.bioRxiv : the preprint server for biology · 2026Article
- Hi-Compass: a depth-aware deep learning framework for predicting cell-type-specific 3D genome organization from single-cell to spatial resolution.Nature communications · 2026Article
- EchoVisuALL: From Echocardiography to Gene Discovery.bioRxiv : the preprint server for biology · 2026Article
- Epigenome-Wide Association Studies of Proteasome Inhibitor-Related Cardiotoxicity in Patients with Multiple Myeloma.Cancers · 2026Article
- Multi-organ AI endophenotypes chart the heterogeneity of brain, eye and heart pan-disease.Nature. Mental health · 2026Article
- The Impact of Ageing on Fibrillar Collagens.Sub-cellular biochemistry · 2026Review
- Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit.American journal of human genetics · 2025Article
- Mapping DNA methylation to cardiac pathologies induced by beta-adrenergic stimulation in a large panel of mice.Epigenetics · 2025Article
- Overview of exosomal non-coding RNAs in cardiovascular disease using high throughput sequencing.European journal of pharmacology · 2025Review
- Decoding heart failure subtypes with neural networks via differential explanation analysis.Briefings in bioinformatics · 2025Article
- Epigenomics and transcriptomics profiles of developing zebrafish heart cells.Scientific data · 2025Article
- Derivation of ultrasound and electrocardiogram cardiac reference ranges for Mus musculus using the collaborative cross and identification of new cardiac models.BMC cardiovascular disorders · 2025Article
- Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.PLoS genetics · 2025Article
- Stem Cell and Synthetic Embryo Models: Advances, Applications, and Ethical Considerations.Stem cell reviews and reports · 2025Review
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Baricitinib and Lonafarnib Synergistically Target Progerin and Inflammation, Improving Lifespan and Health in Progeria Mice.International journal of molecular sciences · 2025Article
- Identifying links between cardiovascular disease and insomnia by modeling genes from a pleiotropic locus.Disease models & mechanisms · 2025Article
- Large-scale multi-omics identifies drug targets for heart failure with reduced and preserved ejection fraction.Nature cardiovascular research · 2025Article
- Twenty-first century mouse genetics is again at an inflection point.Lab animal · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
88 authors.
Nadine SpielmannInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Gregor MillerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-4281-4905
Tudor I OpreaDepartment of Internal Medicine, Division of Translational Informatics and Center of Biomedical Research Excellence in Autophagy, Inflammation, and Metabolism, UNM Health Sciences Center and UNM Comprehensive Cancer Center, Albuquerque, NM, USA.
Chih-Wei HsuDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-9591-9567
Gisela FoboInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Goar FrishmanInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Corinna MontroneInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Hamed Haseli MashhadiEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0001-7334-2421
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0002-2796-5123
Violeta Munoz FuentesEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Stefanie LeuchtenbergerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Andreas RueppInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Matias WagnerInstitut für Humangenetik, Technische Universität Munich, Munich, Germany.ORCID http://orcid.org/0000-0002-4454-8823
Dominik S WestphalInstitut für Humangenetik, Technische Universität Munich, Munich, Germany.ORCID http://orcid.org/0000-0003-4870-9863
Cordula WolfDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University Munich, Munich, Germany.ORCID http://orcid.org/0000-0003-4701-5843
Agnes GörlachExperimental and Molecular Pediatric Cardiology, German Heart Center Munich, Technical University Munich, Munich, Germany.
Adrián Sanz-MorenoInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Yi-Li ChoInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Raffaele TeperinoInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0001-8815-1409
Stefan BrandmaierResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum Munich, Munich, Germany.
Sapna SharmaResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum Munich, Munich, Germany.
Isabella Rikarda GalterInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-5842-6990
Manuela A ÖstereicherInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Lilly ZapfInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Philipp Mayer-KuckukInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Jan RozmanGerman Center for Diabetes Research (DZD), Neuherberg, Germany.ORCID http://orcid.org/0000-0002-8035-8904
Lydia TeboulMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Rosie K A Bunton-StasyshynMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Heather CaterMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.ORCID http://orcid.org/0000-0002-8696-6070
Michelle StewartMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Skevoulla ChristouMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.ORCID http://orcid.org/0000-0002-3906-2757
Henrik WesterbergMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.ORCID http://orcid.org/0000-0002-7204-6900
Amelia M WillettThe Jackson Laboratory, Bar Harbor, ME, USA.
Janine M WottonThe Jackson Laboratory, Bar Harbor, ME, USA.
Willson B RoperThe Jackson Laboratory, Bar Harbor, ME, USA.
Audrey E ChristiansenDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-4918-7609
Christopher S WardDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-3445-6327
Jason D HeaneyDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-8475-8828
Corey L ReynoldsDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
Jan ProchazkaCzech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Lynette BowerMouse Biology Program, University of California, Davis, Davis, CA, USA.
David ClaryMouse Biology Program, University of California, Davis, Davis, CA, USA.ORCID http://orcid.org/0000-0002-3315-7333
Mohammed SelloumUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.ORCID http://orcid.org/0000-0003-4057-3519
Ghina Bou AboutUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.
Olivia WendlingUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.
Hugues JacobsUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.
Sophie LeblancUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.
Hamid MezianeUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.ORCID http://orcid.org/0000-0002-4704-7055
Tania SorgUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.ORCID http://orcid.org/0000-0001-6974-4735
Enrique AudainDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
Arthur GillyInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Nigel W RaynerInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-0510-4792
IMPC consortium
Genomics England Research Consortium
Marc-Phillip HitzDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany.
Eleftheria ZegginiInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-4238-659X
Eckhard WolfInstitute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, Germany.ORCID http://orcid.org/0000-0002-0430-9510
Radislav SedlacekCzech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-3352-392X
Steven A MurrayThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0002-0594-1702
Karen L SvensonThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0002-7928-1911
Robert E BraunThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0003-3856-9465
Jaqueline K WhiteThe Jackson Laboratory, Bar Harbor, ME, USA.
Lois KelseyThe Centre for Phenogenomics, Toronto, Ontario, Canada.
Xiang GaoSKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, China.
Toshihiko ShiroishiRIKEN BioResource Center, Tsukuba, Japan.
Ying XuCambridge-Suda Genomic Research Center, Soochow University, Suzhou, China.ORCID http://orcid.org/0000-0002-6689-7768
Je Kyung SeongKorea Mouse Phenotyping Consortium (KMPC) and BK21 Program for Veterinary Science, Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul, South Korea.ORCID http://orcid.org/0000-0003-1177-6958
Fabio MammanoCNR Institute of Biochemistry and Cell Biology, Monterotondo, Rome, Italy.
Glauco P Tocchini-ValentiniCNR Institute of Biochemistry and Cell Biology, Monterotondo, Rome, Italy.
Arthur L BeaudetDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0003-3751-1691
Helen ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Damian SmedleyWilliam Harvey Research Institute, Charterhouse Square Barts and the London School of Medicine and Dentistry Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-5836-9850
Ann-Marie MallonMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Sara E WellsMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Harald GrallertResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum Munich, Munich, Germany.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum Munich, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Susan MarschallInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.
Helmut FuchsInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-5143-2677
Steve D M BrownMammalian Genetics Unit and Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell, UK.
Ann M FlennikenThe Centre for Phenogenomics, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1892-6154
Lauryl M J NutterThe Centre for Phenogenomics, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-9619-146X
Colin McKerlieLunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Ontario, Canada.
Yann HeraultUniversité de Strasbourg, CNRS, INSERM, IGBMC, Institut Clinique de la Souris, PHENOMIN-ICS, Illkirch, France.ORCID http://orcid.org/0000-0001-7049-6900
K C Kent LloydMouse Biology Program, University of California, Davis, Davis, CA, USA.
Mary E DickinsonDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-4372-9638
Valerie Gailus-DurnerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-6076-0111
Martin Hrabe de AngelisInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich (GmbH), German Research Center for Environmental Health, Neuherberg, Germany. hrabe@helmholtz-muenchen.de.ORCID http://orcid.org/0000-0002-7898-2353
Funding
UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5MThe Jackson Laboratory Knockout Mouse Production and Phenotyping Project (JAX KOMP2)UM1OD023222 · OD · JACKSON LABORATORY · PI ROBERT E BRAUN, Stephen A Murray · 2016 to 2026
$47.2MKOMP2-Phase3 Production and Phenotyping by the DTCC Consortium TCP Transfer to UC DavisUM1OD023221 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2016 to 2026
$45.7MNHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3MMouse Phenotyping Informatics Infrastructure - MP12UM1HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Pilar Cacheiro Martinez, Helen Elizabeth Parkinson · 2016 to 2026
$20.4MKOMP Phase II Mouse Production and CryopreservationU42OD011175 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2012 to 2015
$18.9MKOMP Phase II Mouse PhenotypingU54HG006364 · NHGRI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2011 to 2015
$16.3MGenomic 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
$3.9MMedical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MC_UP_1502/1Medical Research Council MR/M009203/1NHGRI NIH HHS U54 HG006364NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006370NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NIH HHS U42 OD011175NIH HHS UM1 OD023221NIH HHS UM1 OD023222
Abstract
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography and microcomputed tomography imaging to screen 3,894 single-gene-null mouse lines for structural and functional cardiac abnormalities, here we identify 705 lines with cardiac arrhythmia, myocardial hypertrophy and/or ventricular dilation. Among these 705 genes, 486 have not been previously associated with cardiac dysfunction in humans, and some of them represent variants of unknown relevance (VUR). Mice with mutations in Casz1, Dnajc18, Pde4dip, Rnf38 or Tmem161b genes show developmental cardiac structural abnormalities, with their human orthologs being categorized as VUR. Using UK Biobank data, we validate the importance of the DNAJC18 gene for cardiac homeostasis by showing that its loss of function is associated with altered left ventricular systolic function. Our results identify hundreds of previously unappreciated genes with potential function in congenital heart disease and suggest causal function of five VUR in congenital heart disease.
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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 Socratic graph.