Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-05-25

AUTHORS

Bo Yang, Wei Zhou, Jiao Jiao, Jonas B. Nielsen, Michael R. Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A. Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M. Isselbacher, Anders Franco-Cereceda, Dong-chuan Guo, Erwin P. Bottinger, G. Michael Deeb, Anna Booher, Sachin Kheterpal, Y. Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J. Cordell, Bernard D. Keavney, Judith A. Goodship, Santhi K. Ganesh, Gonçalo Abecasis, Kim A. Eagle, Alan P. Boyle, Ruth J. F. Loos, Per Eriksson, Jean-Claude Tardif, Chad M. Brummett, Dianna M. Milewicz, Simon C. Body, Cristen J. Willer

ABSTRACT

Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development. More... »

PAGES

15481

References to SciGraph publications

  • 2012-03. ChromHMM: automating chromatin-state discovery and characterization in NATURE METHODS
  • 2007-04. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations in HUMAN GENETICS
  • 2012-02. A linear complexity phasing method for thousands of genomes in NATURE METHODS
  • 2013-11. Genome engineering using the CRISPR-Cas9 system in NATURE PROTOCOLS
  • 2003-07. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 in NATURE
  • 2013-06. The Genotype-Tissue Expression (GTEx) project in NATURE GENETICS
  • 2015-12. c.620C>T mutation in GATA4 is associated with congenital heart disease in South India in BMC MEDICAL GENETICS
  • 2014-03. A general framework for estimating the relative pathogenicity of human genetic variants in NATURE GENETICS
  • 2016-10. A reference panel of 64,976 haplotypes for genotype imputation in NATURE GENETICS
  • 2007-07. A new multipoint method for genome-wide association studies by imputation of genotypes in NATURE GENETICS
  • 2009-07. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm in NATURE PROTOCOLS
  • 2013-12. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve in BMC MEDICAL GENETICS
  • 2016-08. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2012-09. An integrated encyclopedia of DNA elements in the human genome in NATURE
  • 2014-08. Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve in PEDIATRIC RESEARCH
  • 2015-10. A global reference for human genetic variation in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms15481

    DOI

    http://dx.doi.org/10.1038/ncomms15481

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1085589911

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28541271


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Amino Acid Substitution", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Aortic Valve", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "CRISPR-Cas Systems", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Case-Control Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Transdifferentiation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "GATA4 Transcription Factor", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Regulatory Networks", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Variation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome-Wide Association Study", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heart Defects, Congenital", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heart Valve Diseases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Induced Pluripotent Stem Cells", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation, Missense", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "RNA, Untranslated", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Cardiac Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yang", 
            "givenName": "Bo", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zhou", 
            "givenName": "Wei", 
            "id": "sg:person.0706552355.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706552355.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Cardiac Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jiao", 
            "givenName": "Jiao", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nielsen", 
            "givenName": "Jonas B.", 
            "id": "sg:person.0765074230.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765074230.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mathis", 
            "givenName": "Michael R.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Heydarpour", 
            "givenName": "Mahyar", 
            "id": "sg:person.01063751205.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063751205.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Montreal", 
              "id": "https://www.grid.ac/institutes/grid.14848.31", 
              "name": [
                "Montreal Heart Institute, Montreal, Quebec, Canada HIT 1C8", 
                "Department of Medicine, Universit\u00e9 de Montr\u00e9al, Montreal, Quebec, Canada QC H3T 1J4"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lettre", 
            "givenName": "Guillaume", 
            "id": "sg:person.01155064273.68", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155064273.68"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Technical University of Denmark", 
              "id": "https://www.grid.ac/institutes/grid.5170.3", 
              "name": [
                "Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden", 
                "Center for Biological Sequence Analysis, Technical University of Denmark, Copenhagen DK-2800, Denmark"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Folkersen", 
            "givenName": "Lasse", 
            "id": "sg:person.0743602453.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743602453.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Prakash", 
            "givenName": "Siddharth", 
            "id": "sg:person.01205426310.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205426310.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Icahn School of Medicine at Mount Sinai", 
              "id": "https://www.grid.ac/institutes/grid.59734.3c", 
              "name": [
                "The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schurmann", 
            "givenName": "Claudia", 
            "id": "sg:person.0575776442.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575776442.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Norwegian University of Science and Technology", 
              "id": "https://www.grid.ac/institutes/grid.5947.f", 
              "name": [
                "Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Norwegian University of Science and Technology, Trondheim 7491, Norway"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fritsche", 
            "givenName": "Lars", 
            "id": "sg:person.0736477270.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736477270.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Farnum", 
            "givenName": "Gregory A.", 
            "id": "sg:person.01210164751.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210164751.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lin", 
            "givenName": "Maoxuan", 
            "id": "sg:person.010470176057.91", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010470176057.91"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Othman", 
            "givenName": "Mohammad", 
            "id": "sg:person.0603530022.57", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0603530022.57"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hornsby", 
            "givenName": "Whitney", 
            "id": "sg:person.01117767250.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117767250.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Driscoll", 
            "givenName": "Anisa", 
            "id": "sg:person.07577367372.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07577367372.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Levasseur", 
            "givenName": "Alexandra", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thomas", 
            "givenName": "Marc", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Farhat", 
            "givenName": "Linda", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Montreal", 
              "id": "https://www.grid.ac/institutes/grid.14848.31", 
              "name": [
                "Montreal Heart Institute, Montreal, Quebec, Canada HIT 1C8", 
                "Department of Medicine, Universit\u00e9 de Montr\u00e9al, Montreal, Quebec, Canada QC H3T 1J4"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dub\u00e9", 
            "givenName": "Marie-Pierre", 
            "id": "sg:person.01327242730.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327242730.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Isselbacher", 
            "givenName": "Eric M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Cardiothoracic Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Franco-Cereceda", 
            "givenName": "Anders", 
            "id": "sg:person.01166460421.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166460421.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Guo", 
            "givenName": "Dong-chuan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Icahn School of Medicine at Mount Sinai", 
              "id": "https://www.grid.ac/institutes/grid.59734.3c", 
              "name": [
                "The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bottinger", 
            "givenName": "Erwin P.", 
            "id": "sg:person.01005203363.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005203363.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Cardiac Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Deeb", 
            "givenName": "G. Michael", 
            "id": "sg:person.01023335657.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023335657.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Booher", 
            "givenName": "Anna", 
            "id": "sg:person.011770220151.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011770220151.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kheterpal", 
            "givenName": "Sachin", 
            "id": "sg:person.01206374067.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206374067.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Cardiac Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chen", 
            "givenName": "Y. Eugene", 
            "id": "sg:person.0677500322.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677500322.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kang", 
            "givenName": "Hyun Min", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kitzman", 
            "givenName": "Jacob", 
            "id": "sg:person.01245031315.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245031315.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Newcastle University", 
              "id": "https://www.grid.ac/institutes/grid.1006.7", 
              "name": [
                "Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne NE1 3BZ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cordell", 
            "givenName": "Heather J.", 
            "id": "sg:person.01010763700.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010763700.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Manchester University NHS Foundation Trust", 
              "id": "https://www.grid.ac/institutes/grid.498924.a", 
              "name": [
                "Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK", 
                "Manchester Heart Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Keavney", 
            "givenName": "Bernard D.", 
            "id": "sg:person.0600613727.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600613727.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Newcastle University", 
              "id": "https://www.grid.ac/institutes/grid.1006.7", 
              "name": [
                "Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne NE1 3BZ, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Goodship", 
            "givenName": "Judith A.", 
            "id": "sg:person.01124626723.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124626723.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ganesh", 
            "givenName": "Santhi K.", 
            "id": "sg:person.01041573706.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01041573706.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Abecasis", 
            "givenName": "Gon\u00e7alo", 
            "id": "sg:person.0641525362.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641525362.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eagle", 
            "givenName": "Kim A.", 
            "id": "sg:person.01260640230.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260640230.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boyle", 
            "givenName": "Alan P.", 
            "id": "sg:person.0701425767.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701425767.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Icahn School of Medicine at Mount Sinai", 
              "id": "https://www.grid.ac/institutes/grid.59734.3c", 
              "name": [
                "The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA", 
                "The Mindich Child Health Development Institute, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Loos", 
            "givenName": "Ruth J. F.", 
            "id": "sg:person.012266613364.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012266613364.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eriksson", 
            "givenName": "Per", 
            "id": "sg:person.01047071664.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047071664.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Montreal", 
              "id": "https://www.grid.ac/institutes/grid.14848.31", 
              "name": [
                "Montreal Heart Institute, Montreal, Quebec, Canada HIT 1C8", 
                "Department of Medicine, Universit\u00e9 de Montr\u00e9al, Montreal, Quebec, Canada QC H3T 1J4"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tardif", 
            "givenName": "Jean-Claude", 
            "id": "sg:person.0706115602.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706115602.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brummett", 
            "givenName": "Chad M.", 
            "id": "sg:person.01355457075.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355457075.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Milewicz", 
            "givenName": "Dianna M.", 
            "id": "sg:person.016443576037.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016443576037.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Body", 
            "givenName": "Simon C.", 
            "id": "sg:person.0761153122.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761153122.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Michigan\u2013Ann Arbor", 
              "id": "https://www.grid.ac/institutes/grid.214458.e", 
              "name": [
                "Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA", 
                "Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Willer", 
            "givenName": "Cristen J.", 
            "id": "sg:person.01175557647.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175557647.16"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1242/dev.063495", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000153760"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.30684", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000154192"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/atvbaha.113.302071", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000999640"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/atvbaha.113.302071", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000999640"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1001/jama.2011.1286", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001907657"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1010257108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002223078"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1785", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002640757", 
              "https://doi.org/10.1038/nmeth.1785"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1906", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003714959", 
              "https://doi.org/10.1038/nmeth.1906"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddu399", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004283127"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22434", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005865126"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0735-1097(02)01886-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010634253"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2350-14-44", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011480072", 
              "https://doi.org/10.1186/1471-2350-14-44"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/heart.83.1.81", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011535311"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btu704", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012313285"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.yjmcc.2012.05.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012955203"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2009.86", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015642657", 
              "https://doi.org/10.1038/nprot.2009.86"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2013.143", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016534425", 
              "https://doi.org/10.1038/nprot.2013.143"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ahj.2004.10.036", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017365429"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1096-8628(20011115)104:1<79::aid-ajmg1598>3.0.co;2-t", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017551244"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/519795", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019061180"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddt275", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020599582"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021812064", 
              "https://doi.org/10.1038/nature15393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkt850", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022262054"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature19057", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022281897", 
              "https://doi.org/10.1038/nature19057"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.res.0000141429.13560.cb", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022608006"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.res.0000141429.13560.cb", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022608006"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.hco.0000221578.18254.70", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022808230"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.hco.0000221578.18254.70", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022808230"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.hco.0000221578.18254.70", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022808230"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.hco.0000221578.18254.70", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022808230"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023057833"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circgenetics.115.001324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023103542"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circgenetics.115.001324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023103542"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/dds552", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025727675"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.cir.0000155623.48408.c5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026597336"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0378-1119(94)00893-w", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027614151"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2007.052183", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027623961"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11247", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029065430", 
              "https://doi.org/10.1038/nature11247"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/0471142905.hg0720s76", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029270941"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2004.026740", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031083311"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/stem.1318", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031537393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2653", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032444369", 
              "https://doi.org/10.1038/ng.2653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.137323.112", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034124863"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/pr.2014.67", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034611214", 
              "https://doi.org/10.1038/pr.2014.67"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2016.11.033", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034758162"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circulationaha.107.740878", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034937897"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jacc.2009.12.068", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036245052"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gad.11.8.1061", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036284529"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0008830", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036904748"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ydbio.2004.08.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039618574"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5114/aoms.2013.39788", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041480734"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejmg.2008.06.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041781797"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jss.2006.04.040", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042588092"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gad.11.8.1048", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042967809"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12881-015-0152-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043164915", 
              "https://doi.org/10.1186/s12881-015-0152-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12881-015-0152-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043164915", 
              "https://doi.org/10.1186/s12881-015-0152-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1000529", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043446290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0062138", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045077694"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1155/2012/145202", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046654589"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0316-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046737025", 
              "https://doi.org/10.1007/s00439-006-0316-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0316-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046737025", 
              "https://doi.org/10.1007/s00439-006-0316-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-006-0316-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046737025", 
              "https://doi.org/10.1007/s00439-006-0316-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btv336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046858002"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng2088", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046979341", 
              "https://doi.org/10.1038/ng2088"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jbiomech.2013.03.029", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047775148"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2014.11.021", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047951603"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci44555", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048889562"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.12659/msm.882877", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049064738"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/dvdy.20051", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049830838"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddn187", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050267524"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3643", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050700099", 
              "https://doi.org/10.1038/ng.3643"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3643", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050700099", 
              "https://doi.org/10.1038/ng.3643"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0064496", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050702552"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2892", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050728268", 
              "https://doi.org/10.1038/ng.2892"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.32042", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052485096"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jacc.2004.03.050", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052531099"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkr917", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052960118"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1242/dev.02519", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053435276"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature01827", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053582075", 
              "https://doi.org/10.1038/nature01827"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature01827", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053582075", 
              "https://doi.org/10.1038/nature01827"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3892/ijmm.2011.715", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1071507017"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2017-05-25", 
        "datePublishedReg": "2017-05-25", 
        "description": "Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151\u2009kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/ncomms15481", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2552219", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2543851", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552941", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552216", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552220", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.6617285", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2691336", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5135131", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552218", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2487249", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552945", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552217", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.4243798", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5476098", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3623864", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552943", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.6616622", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3933199", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2345422", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2483443", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2343593", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552939", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552940", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2543447", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.6377036", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552944", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552942", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1043282", 
            "issn": [
              "2041-1723"
            ], 
            "name": "Nature Communications", 
            "type": "Periodical"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "8"
          }
        ], 
        "name": "Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve", 
        "pagination": "15481", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "ed80861a409d9a66880135422342ac040520f3a22a2a4fa8d0a62ae3081b3e93"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "28541271"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101528555"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ncomms15481"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1085589911"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ncomms15481", 
          "https://app.dimensions.ai/details/publication/pub.1085589911"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T13:17", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000368_0000000368/records_78938_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://www.nature.com/articles/ncomms15481"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ncomms15481'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ncomms15481'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ncomms15481'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ncomms15481'


     

    This table displays all metadata directly associated to this object as RDF triples.

    755 TRIPLES      21 PREDICATES      115 URIs      37 LITERALS      26 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ncomms15481 schema:about N01fd3bd7e9a74eb3bbc524fac01cb3f6
    2 N0e941d71b6744687b809933d14be0633
    3 N1bc62478b990469487520835246b3697
    4 N242c2e41efd24d2eb5ab2b6f062a60ef
    5 N481e50593123487db62a9cd4b05b7567
    6 N6cd9f1b7f22c4facb74eef65ef133e0c
    7 N8a7d4c9f50e24b6ba66251c97c49ef2e
    8 Na049b4c3ca444d7386955855b2703bb1
    9 Na21b004339e44b96a6970fef0245115e
    10 Nb0f0ad38c0e34c8282d758839917bd38
    11 Nb8ee151d3eea4ea29f6553e966926a38
    12 Nbce14b1385bc4c3e970a3c0c33453344
    13 Nd11feb3f3d874dae806a82d75cf1ad25
    14 Ne41ba80f92b04f78844a02a56d204140
    15 Nec43fc92a2844be3967c46e96ad580e6
    16 Neda2331ec9ff4894a9e9aa8ad671b5bc
    17 Nee2efb5e265a4a76b4e9ab538bb8f121
    18 Nff1e8045990a44aca4a966b41c853489
    19 anzsrc-for:06
    20 anzsrc-for:0604
    21 schema:author Nf085961d01c5410ba08129d52e058e00
    22 schema:citation sg:pub.10.1007/s00439-006-0316-9
    23 sg:pub.10.1038/nature01827
    24 sg:pub.10.1038/nature11247
    25 sg:pub.10.1038/nature15393
    26 sg:pub.10.1038/nature19057
    27 sg:pub.10.1038/ng.2653
    28 sg:pub.10.1038/ng.2892
    29 sg:pub.10.1038/ng.3643
    30 sg:pub.10.1038/ng2088
    31 sg:pub.10.1038/nmeth.1785
    32 sg:pub.10.1038/nmeth.1906
    33 sg:pub.10.1038/nprot.2009.86
    34 sg:pub.10.1038/nprot.2013.143
    35 sg:pub.10.1038/pr.2014.67
    36 sg:pub.10.1186/1471-2350-14-44
    37 sg:pub.10.1186/s12881-015-0152-7
    38 https://doi.org/10.1001/jama.2011.1286
    39 https://doi.org/10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v
    40 https://doi.org/10.1002/0471142905.hg0720s76
    41 https://doi.org/10.1002/1096-8628(20011115)104:1<79::aid-ajmg1598>3.0.co;2-t
    42 https://doi.org/10.1002/ajmg.a.30684
    43 https://doi.org/10.1002/ajmg.a.32042
    44 https://doi.org/10.1002/dvdy.20051
    45 https://doi.org/10.1002/humu.22434
    46 https://doi.org/10.1002/stem.1318
    47 https://doi.org/10.1016/0378-1119(94)00893-w
    48 https://doi.org/10.1016/j.ahj.2004.10.036
    49 https://doi.org/10.1016/j.cell.2014.11.021
    50 https://doi.org/10.1016/j.cell.2016.11.033
    51 https://doi.org/10.1016/j.ejmg.2008.06.005
    52 https://doi.org/10.1016/j.jacc.2004.03.050
    53 https://doi.org/10.1016/j.jacc.2009.12.068
    54 https://doi.org/10.1016/j.jbiomech.2013.03.029
    55 https://doi.org/10.1016/j.jss.2006.04.040
    56 https://doi.org/10.1016/j.ydbio.2004.08.008
    57 https://doi.org/10.1016/j.yjmcc.2012.05.009
    58 https://doi.org/10.1016/s0735-1097(02)01886-7
    59 https://doi.org/10.1073/pnas.1010257108
    60 https://doi.org/10.1086/519795
    61 https://doi.org/10.1093/bioinformatics/btu704
    62 https://doi.org/10.1093/bioinformatics/btv336
    63 https://doi.org/10.1093/hmg/ddn187
    64 https://doi.org/10.1093/hmg/dds552
    65 https://doi.org/10.1093/hmg/ddt275
    66 https://doi.org/10.1093/hmg/ddu399
    67 https://doi.org/10.1093/nar/gkr917
    68 https://doi.org/10.1093/nar/gkt850
    69 https://doi.org/10.1097/01.hco.0000221578.18254.70
    70 https://doi.org/10.1101/gad.11.8.1048
    71 https://doi.org/10.1101/gad.11.8.1061
    72 https://doi.org/10.1101/gr.137323.112
    73 https://doi.org/10.1136/heart.83.1.81
    74 https://doi.org/10.1136/jmg.2004.026740
    75 https://doi.org/10.1136/jmg.2007.052183
    76 https://doi.org/10.1155/2012/145202
    77 https://doi.org/10.1161/01.cir.0000155623.48408.c5
    78 https://doi.org/10.1161/01.res.0000141429.13560.cb
    79 https://doi.org/10.1161/atvbaha.113.302071
    80 https://doi.org/10.1161/circgenetics.115.001324
    81 https://doi.org/10.1161/circulationaha.107.740878
    82 https://doi.org/10.1172/jci44555
    83 https://doi.org/10.1242/dev.02519
    84 https://doi.org/10.1242/dev.063495
    85 https://doi.org/10.12659/msm.882877
    86 https://doi.org/10.1371/journal.pgen.1000529
    87 https://doi.org/10.1371/journal.pone.0008830
    88 https://doi.org/10.1371/journal.pone.0062138
    89 https://doi.org/10.1371/journal.pone.0064496
    90 https://doi.org/10.3892/ijmm.2011.715
    91 https://doi.org/10.5114/aoms.2013.39788
    92 schema:datePublished 2017-05-25
    93 schema:datePublishedReg 2017-05-25
    94 schema:description Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.
    95 schema:genre research_article
    96 schema:inLanguage en
    97 schema:isAccessibleForFree true
    98 schema:isPartOf N96acd13f41fb48a5913c157faecdc905
    99 sg:journal.1043282
    100 schema:name Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
    101 schema:pagination 15481
    102 schema:productId N2e0cdab80edd4672a477add29f39b8d5
    103 N43ad337ac86a451aa5931e4ca0d6e1e9
    104 Na0b52e3fe645495a9fbf07e06efaf912
    105 Nb12e26f2945647c693a5e2b07dae67a3
    106 Ncc087e0e294546efa897884fe9d87bfc
    107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085589911
    108 https://doi.org/10.1038/ncomms15481
    109 schema:sdDatePublished 2019-04-11T13:17
    110 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    111 schema:sdPublisher Nad2b5df8da8c4a24a7c7b4fbe25f57f6
    112 schema:url http://www.nature.com/articles/ncomms15481
    113 sgo:license sg:explorer/license/
    114 sgo:sdDataset articles
    115 rdf:type schema:ScholarlyArticle
    116 N01fd3bd7e9a74eb3bbc524fac01cb3f6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    117 schema:name Humans
    118 rdf:type schema:DefinedTerm
    119 N03dfb7b82e0246f1b8f0aa9e91fbadac rdf:first sg:person.0677500322.44
    120 rdf:rest N5403759fd0364f4592e1003932435151
    121 N064ec6adc9ad4a08a050210e6ea61619 schema:name Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden
    122 rdf:type schema:Organization
    123 N094efcd7803445a591122815c3ef1c22 rdf:first sg:person.0575776442.24
    124 rdf:rest Nd0661c3ef2884699b5c3e0efbc1fa21f
    125 N0e941d71b6744687b809933d14be0633 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    126 schema:name Case-Control Studies
    127 rdf:type schema:DefinedTerm
    128 N0ee5cb01b3d64a14a534cd3866e7bdf2 rdf:first sg:person.01010763700.46
    129 rdf:rest N6f8cd6699c7a45f69d89698c00149a20
    130 N0f1e1e9e858248738a8da70725ef575e rdf:first sg:person.01023335657.94
    131 rdf:rest Nb2cff5cc49ba4e00956820811dce24e0
    132 N115a44cedc664ce5827a860eeaa8c990 rdf:first sg:person.01327242730.84
    133 rdf:rest N9e4ffb32505e474091b2229548d54542
    134 N1a78024897e441a8a52199095715f29d rdf:first sg:person.0603530022.57
    135 rdf:rest N31e55ca928d14d69bb6923877c02fa58
    136 N1a928f820b86473fb0cc65f8985d8104 schema:name Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA
    137 rdf:type schema:Organization
    138 N1bc62478b990469487520835246b3697 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Induced Pluripotent Stem Cells
    140 rdf:type schema:DefinedTerm
    141 N1f7fb6a345a74bddba3ca3f7fa39c19e rdf:first sg:person.01205426310.26
    142 rdf:rest N094efcd7803445a591122815c3ef1c22
    143 N23af179e385f44b582f88841d8fa3b51 rdf:first Nb613a4cb659849418cd6e65be5e54506
    144 rdf:rest N8376cb089fc04ee68223754a71ffceb7
    145 N242c2e41efd24d2eb5ab2b6f062a60ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    146 schema:name Gene Regulatory Networks
    147 rdf:type schema:DefinedTerm
    148 N25bdc24b347a4369ae7af676bc07ccc5 rdf:first Nbb3ff9482bab44f6b3ee8943b36dd546
    149 rdf:rest N450e204387794f4783b7c0088d7f6e87
    150 N298cc3b04a0a4a9faf8c6547cbd30dd5 schema:name Cardiothoracic Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden
    151 rdf:type schema:Organization
    152 N2a038d1227eb4285813cf982115256ad rdf:first sg:person.0706115602.32
    153 rdf:rest N53d4b489c8524671b2669a80fb5137ea
    154 N2e0cdab80edd4672a477add29f39b8d5 schema:name nlm_unique_id
    155 schema:value 101528555
    156 rdf:type schema:PropertyValue
    157 N31e55ca928d14d69bb6923877c02fa58 rdf:first sg:person.01117767250.11
    158 rdf:rest Ne80a409623b14502a09f7d0ccbbfc749
    159 N35882211aaf1476d9a5b49ca82efd8d2 schema:affiliation N46e34c71c789401fa8c3753d02d92bc7
    160 schema:familyName Isselbacher
    161 schema:givenName Eric M.
    162 rdf:type schema:Person
    163 N3800fe628bc94a738576e398c635d1f1 rdf:first Nccb7efa1199a4836a2e33c72fb90b606
    164 rdf:rest Ndee561059e194e19a2e19239da8a0965
    165 N3916bcdbca4b459d9b3e4ffe770d9a8e rdf:first sg:person.01245031315.82
    166 rdf:rest N0ee5cb01b3d64a14a534cd3866e7bdf2
    167 N3d1e2d1079684aa58bcdfdaafc19e59d rdf:first sg:person.01155064273.68
    168 rdf:rest Nec6a7c1262b9454b96904d6962d21bbe
    169 N43ad337ac86a451aa5931e4ca0d6e1e9 schema:name dimensions_id
    170 schema:value pub.1085589911
    171 rdf:type schema:PropertyValue
    172 N450e204387794f4783b7c0088d7f6e87 rdf:first sg:person.01063751205.85
    173 rdf:rest N3d1e2d1079684aa58bcdfdaafc19e59d
    174 N46e34c71c789401fa8c3753d02d92bc7 schema:name Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    175 rdf:type schema:Organization
    176 N481e50593123487db62a9cd4b05b7567 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    177 schema:name Mutation, Missense
    178 rdf:type schema:DefinedTerm
    179 N53d4b489c8524671b2669a80fb5137ea rdf:first sg:person.01355457075.71
    180 rdf:rest Nbd2ef9b3c18941069f620b73bee73d79
    181 N5403759fd0364f4592e1003932435151 rdf:first N559a592a17df41b3862fce50a01cfa8a
    182 rdf:rest N3916bcdbca4b459d9b3e4ffe770d9a8e
    183 N559a592a17df41b3862fce50a01cfa8a schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    184 schema:familyName Kang
    185 schema:givenName Hyun Min
    186 rdf:type schema:Person
    187 N5e1863171ba64d78a930cf43e2b38cfa schema:name Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA
    188 rdf:type schema:Organization
    189 N5f737fcd79e2441da8bf5c51d0caa010 rdf:first Ncd60a45276fe4982b8d8f6352758574f
    190 rdf:rest Nfe412682bfae497085d5f6ec309bef11
    191 N60df073e7a8444e4b306b9f92589a7fe rdf:first sg:person.012266613364.42
    192 rdf:rest N9555be5ad17a4719bf44c52f8f18ddfb
    193 N660052ffac3a40628a0af27f9f469259 rdf:first sg:person.01166460421.92
    194 rdf:rest N23af179e385f44b582f88841d8fa3b51
    195 N6cd9f1b7f22c4facb74eef65ef133e0c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    196 schema:name Aortic Valve
    197 rdf:type schema:DefinedTerm
    198 N6f8cd6699c7a45f69d89698c00149a20 rdf:first sg:person.0600613727.54
    199 rdf:rest N7889e15b0d224552831b857c1dee5103
    200 N7503c41314e0412e8867ff5d217a948d rdf:first sg:person.0706552355.14
    201 rdf:rest N5f737fcd79e2441da8bf5c51d0caa010
    202 N77f43de84f2f42cd91fc9e9e01c89fe9 rdf:first sg:person.0641525362.39
    203 rdf:rest N7800fa69c2054a99bd145abc573402d6
    204 N7800fa69c2054a99bd145abc573402d6 rdf:first sg:person.01260640230.37
    205 rdf:rest N94b7c704b0154c3abd25d4986349012e
    206 N7889e15b0d224552831b857c1dee5103 rdf:first sg:person.01124626723.02
    207 rdf:rest Nc3056889b72e464fa3e7e4fbfea321c2
    208 N8376cb089fc04ee68223754a71ffceb7 rdf:first sg:person.01005203363.26
    209 rdf:rest N0f1e1e9e858248738a8da70725ef575e
    210 N8a1afd8fbe35442bbefdaeaf7d21c0d7 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    211 schema:familyName Thomas
    212 schema:givenName Marc
    213 rdf:type schema:Person
    214 N8a7d4c9f50e24b6ba66251c97c49ef2e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    215 schema:name RNA, Untranslated
    216 rdf:type schema:DefinedTerm
    217 N8c71f509825e4ece9dbfb6b9ccb31318 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    218 schema:familyName Farhat
    219 schema:givenName Linda
    220 rdf:type schema:Person
    221 N8e1f24cd1a364a2fbfbfb76177f1b0e2 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    222 schema:familyName Yang
    223 schema:givenName Bo
    224 rdf:type schema:Person
    225 N94b7c704b0154c3abd25d4986349012e rdf:first sg:person.0701425767.18
    226 rdf:rest N60df073e7a8444e4b306b9f92589a7fe
    227 N9517b447002847bfb40d46f5a289b5e4 rdf:first sg:person.01210164751.93
    228 rdf:rest Nb80a9784c446487bbd3648f29ff0d037
    229 N9555be5ad17a4719bf44c52f8f18ddfb rdf:first sg:person.01047071664.84
    230 rdf:rest N2a038d1227eb4285813cf982115256ad
    231 N96acd13f41fb48a5913c157faecdc905 schema:volumeNumber 8
    232 rdf:type schema:PublicationVolume
    233 N9b215b7cce3e4b248c57271b06411c6b schema:name Department of Internal Medicine, Division of Medical Genetics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas 77030, USA
    234 rdf:type schema:Organization
    235 N9e4ffb32505e474091b2229548d54542 rdf:first N35882211aaf1476d9a5b49ca82efd8d2
    236 rdf:rest N660052ffac3a40628a0af27f9f469259
    237 N9e7b52d3fafe4b4a8e340c17bcf550ca schema:name Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    238 rdf:type schema:Organization
    239 Na049b4c3ca444d7386955855b2703bb1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    240 schema:name Amino Acid Substitution
    241 rdf:type schema:DefinedTerm
    242 Na0b52e3fe645495a9fbf07e06efaf912 schema:name pubmed_id
    243 schema:value 28541271
    244 rdf:type schema:PropertyValue
    245 Na21b004339e44b96a6970fef0245115e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    246 schema:name CRISPR-Cas Systems
    247 rdf:type schema:DefinedTerm
    248 Nad2b5df8da8c4a24a7c7b4fbe25f57f6 schema:name Springer Nature - SN SciGraph project
    249 rdf:type schema:Organization
    250 Nb0f0ad38c0e34c8282d758839917bd38 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    251 schema:name Cell Transdifferentiation
    252 rdf:type schema:DefinedTerm
    253 Nb12e26f2945647c693a5e2b07dae67a3 schema:name doi
    254 schema:value 10.1038/ncomms15481
    255 rdf:type schema:PropertyValue
    256 Nb2cff5cc49ba4e00956820811dce24e0 rdf:first sg:person.011770220151.29
    257 rdf:rest Nf9efbc733f9a4e5badaa07f03bc7c2f5
    258 Nb4b0388c1b5b43e8b0b11617b3ddaf95 rdf:first sg:person.01175557647.16
    259 rdf:rest rdf:nil
    260 Nb613a4cb659849418cd6e65be5e54506 schema:affiliation N9b215b7cce3e4b248c57271b06411c6b
    261 schema:familyName Guo
    262 schema:givenName Dong-chuan
    263 rdf:type schema:Person
    264 Nb80a9784c446487bbd3648f29ff0d037 rdf:first sg:person.010470176057.91
    265 rdf:rest N1a78024897e441a8a52199095715f29d
    266 Nb8ee151d3eea4ea29f6553e966926a38 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    267 schema:name Phenotype
    268 rdf:type schema:DefinedTerm
    269 Nbb3ff9482bab44f6b3ee8943b36dd546 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    270 schema:familyName Mathis
    271 schema:givenName Michael R.
    272 rdf:type schema:Person
    273 Nbce14b1385bc4c3e970a3c0c33453344 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    274 schema:name Heart Defects, Congenital
    275 rdf:type schema:DefinedTerm
    276 Nbd2ef9b3c18941069f620b73bee73d79 rdf:first sg:person.016443576037.54
    277 rdf:rest Nf39395ab566e4ee5b6e1d10e43f69405
    278 Nc3056889b72e464fa3e7e4fbfea321c2 rdf:first sg:person.01041573706.30
    279 rdf:rest N77f43de84f2f42cd91fc9e9e01c89fe9
    280 Ncc087e0e294546efa897884fe9d87bfc schema:name readcube_id
    281 schema:value ed80861a409d9a66880135422342ac040520f3a22a2a4fa8d0a62ae3081b3e93
    282 rdf:type schema:PropertyValue
    283 Nccb7efa1199a4836a2e33c72fb90b606 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    284 schema:familyName Levasseur
    285 schema:givenName Alexandra
    286 rdf:type schema:Person
    287 Ncd60a45276fe4982b8d8f6352758574f schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    288 schema:familyName Jiao
    289 schema:givenName Jiao
    290 rdf:type schema:Person
    291 Nd0661c3ef2884699b5c3e0efbc1fa21f rdf:first sg:person.0736477270.05
    292 rdf:rest N9517b447002847bfb40d46f5a289b5e4
    293 Nd11feb3f3d874dae806a82d75cf1ad25 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    294 schema:name Heart Valve Diseases
    295 rdf:type schema:DefinedTerm
    296 Nd2db1687a920497bb30f66b22ff0f566 schema:name Department of Anesthesiology, Perioperative, and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    297 rdf:type schema:Organization
    298 Nd5f48627acf94a5aabef7b1fa0d68863 rdf:first N8c71f509825e4ece9dbfb6b9ccb31318
    299 rdf:rest N115a44cedc664ce5827a860eeaa8c990
    300 Ndee561059e194e19a2e19239da8a0965 rdf:first N8a1afd8fbe35442bbefdaeaf7d21c0d7
    301 rdf:rest Nd5f48627acf94a5aabef7b1fa0d68863
    302 Ne41ba80f92b04f78844a02a56d204140 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    303 schema:name Genetic Variation
    304 rdf:type schema:DefinedTerm
    305 Ne80a409623b14502a09f7d0ccbbfc749 rdf:first sg:person.07577367372.44
    306 rdf:rest N3800fe628bc94a738576e398c635d1f1
    307 Nec43fc92a2844be3967c46e96ad580e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    308 schema:name Genome-Wide Association Study
    309 rdf:type schema:DefinedTerm
    310 Nec6a7c1262b9454b96904d6962d21bbe rdf:first sg:person.0743602453.60
    311 rdf:rest N1f7fb6a345a74bddba3ca3f7fa39c19e
    312 Neda2331ec9ff4894a9e9aa8ad671b5bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    313 schema:name Female
    314 rdf:type schema:DefinedTerm
    315 Nee2efb5e265a4a76b4e9ab538bb8f121 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    316 schema:name GATA4 Transcription Factor
    317 rdf:type schema:DefinedTerm
    318 Nf085961d01c5410ba08129d52e058e00 rdf:first N8e1f24cd1a364a2fbfbfb76177f1b0e2
    319 rdf:rest N7503c41314e0412e8867ff5d217a948d
    320 Nf39395ab566e4ee5b6e1d10e43f69405 rdf:first sg:person.0761153122.52
    321 rdf:rest Nb4b0388c1b5b43e8b0b11617b3ddaf95
    322 Nf9efbc733f9a4e5badaa07f03bc7c2f5 rdf:first sg:person.01206374067.28
    323 rdf:rest N03dfb7b82e0246f1b8f0aa9e91fbadac
    324 Nfe412682bfae497085d5f6ec309bef11 rdf:first sg:person.0765074230.63
    325 rdf:rest N25bdc24b347a4369ae7af676bc07ccc5
    326 Nff1e8045990a44aca4a966b41c853489 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    327 schema:name Male
    328 rdf:type schema:DefinedTerm
    329 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    330 schema:name Biological Sciences
    331 rdf:type schema:DefinedTerm
    332 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    333 schema:name Genetics
    334 rdf:type schema:DefinedTerm
    335 sg:grant.2343593 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    336 rdf:type schema:MonetaryGrant
    337 sg:grant.2345422 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    338 rdf:type schema:MonetaryGrant
    339 sg:grant.2483443 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    340 rdf:type schema:MonetaryGrant
    341 sg:grant.2487249 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    342 rdf:type schema:MonetaryGrant
    343 sg:grant.2543447 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    344 rdf:type schema:MonetaryGrant
    345 sg:grant.2543851 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    346 rdf:type schema:MonetaryGrant
    347 sg:grant.2552216 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    348 rdf:type schema:MonetaryGrant
    349 sg:grant.2552217 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    350 rdf:type schema:MonetaryGrant
    351 sg:grant.2552218 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    352 rdf:type schema:MonetaryGrant
    353 sg:grant.2552219 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    354 rdf:type schema:MonetaryGrant
    355 sg:grant.2552220 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    356 rdf:type schema:MonetaryGrant
    357 sg:grant.2552939 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    358 rdf:type schema:MonetaryGrant
    359 sg:grant.2552940 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    360 rdf:type schema:MonetaryGrant
    361 sg:grant.2552941 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    362 rdf:type schema:MonetaryGrant
    363 sg:grant.2552942 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    364 rdf:type schema:MonetaryGrant
    365 sg:grant.2552943 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    366 rdf:type schema:MonetaryGrant
    367 sg:grant.2552944 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    368 rdf:type schema:MonetaryGrant
    369 sg:grant.2552945 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    370 rdf:type schema:MonetaryGrant
    371 sg:grant.2691336 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    372 rdf:type schema:MonetaryGrant
    373 sg:grant.3623864 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    374 rdf:type schema:MonetaryGrant
    375 sg:grant.3933199 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    376 rdf:type schema:MonetaryGrant
    377 sg:grant.4243798 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    378 rdf:type schema:MonetaryGrant
    379 sg:grant.5135131 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    380 rdf:type schema:MonetaryGrant
    381 sg:grant.5476098 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    382 rdf:type schema:MonetaryGrant
    383 sg:grant.6377036 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    384 rdf:type schema:MonetaryGrant
    385 sg:grant.6616622 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    386 rdf:type schema:MonetaryGrant
    387 sg:grant.6617285 http://pending.schema.org/fundedItem sg:pub.10.1038/ncomms15481
    388 rdf:type schema:MonetaryGrant
    389 sg:journal.1043282 schema:issn 2041-1723
    390 schema:name Nature Communications
    391 rdf:type schema:Periodical
    392 sg:person.01005203363.26 schema:affiliation https://www.grid.ac/institutes/grid.59734.3c
    393 schema:familyName Bottinger
    394 schema:givenName Erwin P.
    395 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005203363.26
    396 rdf:type schema:Person
    397 sg:person.01010763700.46 schema:affiliation https://www.grid.ac/institutes/grid.1006.7
    398 schema:familyName Cordell
    399 schema:givenName Heather J.
    400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010763700.46
    401 rdf:type schema:Person
    402 sg:person.01023335657.94 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    403 schema:familyName Deeb
    404 schema:givenName G. Michael
    405 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023335657.94
    406 rdf:type schema:Person
    407 sg:person.01041573706.30 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    408 schema:familyName Ganesh
    409 schema:givenName Santhi K.
    410 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01041573706.30
    411 rdf:type schema:Person
    412 sg:person.010470176057.91 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    413 schema:familyName Lin
    414 schema:givenName Maoxuan
    415 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010470176057.91
    416 rdf:type schema:Person
    417 sg:person.01047071664.84 schema:affiliation N064ec6adc9ad4a08a050210e6ea61619
    418 schema:familyName Eriksson
    419 schema:givenName Per
    420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047071664.84
    421 rdf:type schema:Person
    422 sg:person.01063751205.85 schema:affiliation N9e7b52d3fafe4b4a8e340c17bcf550ca
    423 schema:familyName Heydarpour
    424 schema:givenName Mahyar
    425 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063751205.85
    426 rdf:type schema:Person
    427 sg:person.01117767250.11 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    428 schema:familyName Hornsby
    429 schema:givenName Whitney
    430 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117767250.11
    431 rdf:type schema:Person
    432 sg:person.01124626723.02 schema:affiliation https://www.grid.ac/institutes/grid.1006.7
    433 schema:familyName Goodship
    434 schema:givenName Judith A.
    435 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124626723.02
    436 rdf:type schema:Person
    437 sg:person.01155064273.68 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
    438 schema:familyName Lettre
    439 schema:givenName Guillaume
    440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155064273.68
    441 rdf:type schema:Person
    442 sg:person.01166460421.92 schema:affiliation N298cc3b04a0a4a9faf8c6547cbd30dd5
    443 schema:familyName Franco-Cereceda
    444 schema:givenName Anders
    445 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166460421.92
    446 rdf:type schema:Person
    447 sg:person.01175557647.16 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    448 schema:familyName Willer
    449 schema:givenName Cristen J.
    450 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175557647.16
    451 rdf:type schema:Person
    452 sg:person.011770220151.29 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    453 schema:familyName Booher
    454 schema:givenName Anna
    455 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011770220151.29
    456 rdf:type schema:Person
    457 sg:person.01205426310.26 schema:affiliation N5e1863171ba64d78a930cf43e2b38cfa
    458 schema:familyName Prakash
    459 schema:givenName Siddharth
    460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205426310.26
    461 rdf:type schema:Person
    462 sg:person.01206374067.28 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    463 schema:familyName Kheterpal
    464 schema:givenName Sachin
    465 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206374067.28
    466 rdf:type schema:Person
    467 sg:person.01210164751.93 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    468 schema:familyName Farnum
    469 schema:givenName Gregory A.
    470 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210164751.93
    471 rdf:type schema:Person
    472 sg:person.012266613364.42 schema:affiliation https://www.grid.ac/institutes/grid.59734.3c
    473 schema:familyName Loos
    474 schema:givenName Ruth J. F.
    475 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012266613364.42
    476 rdf:type schema:Person
    477 sg:person.01245031315.82 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    478 schema:familyName Kitzman
    479 schema:givenName Jacob
    480 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245031315.82
    481 rdf:type schema:Person
    482 sg:person.01260640230.37 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    483 schema:familyName Eagle
    484 schema:givenName Kim A.
    485 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260640230.37
    486 rdf:type schema:Person
    487 sg:person.01327242730.84 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
    488 schema:familyName Dubé
    489 schema:givenName Marie-Pierre
    490 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327242730.84
    491 rdf:type schema:Person
    492 sg:person.01355457075.71 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    493 schema:familyName Brummett
    494 schema:givenName Chad M.
    495 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355457075.71
    496 rdf:type schema:Person
    497 sg:person.016443576037.54 schema:affiliation N1a928f820b86473fb0cc65f8985d8104
    498 schema:familyName Milewicz
    499 schema:givenName Dianna M.
    500 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016443576037.54
    501 rdf:type schema:Person
    502 sg:person.0575776442.24 schema:affiliation https://www.grid.ac/institutes/grid.59734.3c
    503 schema:familyName Schurmann
    504 schema:givenName Claudia
    505 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575776442.24
    506 rdf:type schema:Person
    507 sg:person.0600613727.54 schema:affiliation https://www.grid.ac/institutes/grid.498924.a
    508 schema:familyName Keavney
    509 schema:givenName Bernard D.
    510 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600613727.54
    511 rdf:type schema:Person
    512 sg:person.0603530022.57 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    513 schema:familyName Othman
    514 schema:givenName Mohammad
    515 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0603530022.57
    516 rdf:type schema:Person
    517 sg:person.0641525362.39 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    518 schema:familyName Abecasis
    519 schema:givenName Gonçalo
    520 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641525362.39
    521 rdf:type schema:Person
    522 sg:person.0677500322.44 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    523 schema:familyName Chen
    524 schema:givenName Y. Eugene
    525 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677500322.44
    526 rdf:type schema:Person
    527 sg:person.0701425767.18 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    528 schema:familyName Boyle
    529 schema:givenName Alan P.
    530 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701425767.18
    531 rdf:type schema:Person
    532 sg:person.0706115602.32 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
    533 schema:familyName Tardif
    534 schema:givenName Jean-Claude
    535 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706115602.32
    536 rdf:type schema:Person
    537 sg:person.0706552355.14 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    538 schema:familyName Zhou
    539 schema:givenName Wei
    540 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706552355.14
    541 rdf:type schema:Person
    542 sg:person.0736477270.05 schema:affiliation https://www.grid.ac/institutes/grid.5947.f
    543 schema:familyName Fritsche
    544 schema:givenName Lars
    545 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736477270.05
    546 rdf:type schema:Person
    547 sg:person.0743602453.60 schema:affiliation https://www.grid.ac/institutes/grid.5170.3
    548 schema:familyName Folkersen
    549 schema:givenName Lasse
    550 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743602453.60
    551 rdf:type schema:Person
    552 sg:person.07577367372.44 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    553 schema:familyName Driscoll
    554 schema:givenName Anisa
    555 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07577367372.44
    556 rdf:type schema:Person
    557 sg:person.0761153122.52 schema:affiliation Nd2db1687a920497bb30f66b22ff0f566
    558 schema:familyName Body
    559 schema:givenName Simon C.
    560 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761153122.52
    561 rdf:type schema:Person
    562 sg:person.0765074230.63 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
    563 schema:familyName Nielsen
    564 schema:givenName Jonas B.
    565 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765074230.63
    566 rdf:type schema:Person
    567 sg:pub.10.1007/s00439-006-0316-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046737025
    568 https://doi.org/10.1007/s00439-006-0316-9
    569 rdf:type schema:CreativeWork
    570 sg:pub.10.1038/nature01827 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053582075
    571 https://doi.org/10.1038/nature01827
    572 rdf:type schema:CreativeWork
    573 sg:pub.10.1038/nature11247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029065430
    574 https://doi.org/10.1038/nature11247
    575 rdf:type schema:CreativeWork
    576 sg:pub.10.1038/nature15393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021812064
    577 https://doi.org/10.1038/nature15393
    578 rdf:type schema:CreativeWork
    579 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
    580 https://doi.org/10.1038/nature19057
    581 rdf:type schema:CreativeWork
    582 sg:pub.10.1038/ng.2653 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032444369
    583 https://doi.org/10.1038/ng.2653
    584 rdf:type schema:CreativeWork
    585 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
    586 https://doi.org/10.1038/ng.2892
    587 rdf:type schema:CreativeWork
    588 sg:pub.10.1038/ng.3643 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050700099
    589 https://doi.org/10.1038/ng.3643
    590 rdf:type schema:CreativeWork
    591 sg:pub.10.1038/ng2088 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046979341
    592 https://doi.org/10.1038/ng2088
    593 rdf:type schema:CreativeWork
    594 sg:pub.10.1038/nmeth.1785 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002640757
    595 https://doi.org/10.1038/nmeth.1785
    596 rdf:type schema:CreativeWork
    597 sg:pub.10.1038/nmeth.1906 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003714959
    598 https://doi.org/10.1038/nmeth.1906
    599 rdf:type schema:CreativeWork
    600 sg:pub.10.1038/nprot.2009.86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015642657
    601 https://doi.org/10.1038/nprot.2009.86
    602 rdf:type schema:CreativeWork
    603 sg:pub.10.1038/nprot.2013.143 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016534425
    604 https://doi.org/10.1038/nprot.2013.143
    605 rdf:type schema:CreativeWork
    606 sg:pub.10.1038/pr.2014.67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034611214
    607 https://doi.org/10.1038/pr.2014.67
    608 rdf:type schema:CreativeWork
    609 sg:pub.10.1186/1471-2350-14-44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011480072
    610 https://doi.org/10.1186/1471-2350-14-44
    611 rdf:type schema:CreativeWork
    612 sg:pub.10.1186/s12881-015-0152-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043164915
    613 https://doi.org/10.1186/s12881-015-0152-7
    614 rdf:type schema:CreativeWork
    615 https://doi.org/10.1001/jama.2011.1286 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001907657
    616 rdf:type schema:CreativeWork
    617 https://doi.org/10.1002/(sici)1096-8628(19990319)83:3<201::aid-ajmg11>3.0.co;2-v schema:sameAs https://app.dimensions.ai/details/publication/pub.1023057833
    618 rdf:type schema:CreativeWork
    619 https://doi.org/10.1002/0471142905.hg0720s76 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029270941
    620 rdf:type schema:CreativeWork
    621 https://doi.org/10.1002/1096-8628(20011115)104:1<79::aid-ajmg1598>3.0.co;2-t schema:sameAs https://app.dimensions.ai/details/publication/pub.1017551244
    622 rdf:type schema:CreativeWork
    623 https://doi.org/10.1002/ajmg.a.30684 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000154192
    624 rdf:type schema:CreativeWork
    625 https://doi.org/10.1002/ajmg.a.32042 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052485096
    626 rdf:type schema:CreativeWork
    627 https://doi.org/10.1002/dvdy.20051 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049830838
    628 rdf:type schema:CreativeWork
    629 https://doi.org/10.1002/humu.22434 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005865126
    630 rdf:type schema:CreativeWork
    631 https://doi.org/10.1002/stem.1318 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031537393
    632 rdf:type schema:CreativeWork
    633 https://doi.org/10.1016/0378-1119(94)00893-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1027614151
    634 rdf:type schema:CreativeWork
    635 https://doi.org/10.1016/j.ahj.2004.10.036 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017365429
    636 rdf:type schema:CreativeWork
    637 https://doi.org/10.1016/j.cell.2014.11.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047951603
    638 rdf:type schema:CreativeWork
    639 https://doi.org/10.1016/j.cell.2016.11.033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034758162
    640 rdf:type schema:CreativeWork
    641 https://doi.org/10.1016/j.ejmg.2008.06.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041781797
    642 rdf:type schema:CreativeWork
    643 https://doi.org/10.1016/j.jacc.2004.03.050 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052531099
    644 rdf:type schema:CreativeWork
    645 https://doi.org/10.1016/j.jacc.2009.12.068 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036245052
    646 rdf:type schema:CreativeWork
    647 https://doi.org/10.1016/j.jbiomech.2013.03.029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047775148
    648 rdf:type schema:CreativeWork
    649 https://doi.org/10.1016/j.jss.2006.04.040 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042588092
    650 rdf:type schema:CreativeWork
    651 https://doi.org/10.1016/j.ydbio.2004.08.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039618574
    652 rdf:type schema:CreativeWork
    653 https://doi.org/10.1016/j.yjmcc.2012.05.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012955203
    654 rdf:type schema:CreativeWork
    655 https://doi.org/10.1016/s0735-1097(02)01886-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010634253
    656 rdf:type schema:CreativeWork
    657 https://doi.org/10.1073/pnas.1010257108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002223078
    658 rdf:type schema:CreativeWork
    659 https://doi.org/10.1086/519795 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019061180
    660 rdf:type schema:CreativeWork
    661 https://doi.org/10.1093/bioinformatics/btu704 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012313285
    662 rdf:type schema:CreativeWork
    663 https://doi.org/10.1093/bioinformatics/btv336 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046858002
    664 rdf:type schema:CreativeWork
    665 https://doi.org/10.1093/hmg/ddn187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050267524
    666 rdf:type schema:CreativeWork
    667 https://doi.org/10.1093/hmg/dds552 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025727675
    668 rdf:type schema:CreativeWork
    669 https://doi.org/10.1093/hmg/ddt275 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020599582
    670 rdf:type schema:CreativeWork
    671 https://doi.org/10.1093/hmg/ddu399 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004283127
    672 rdf:type schema:CreativeWork
    673 https://doi.org/10.1093/nar/gkr917 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052960118
    674 rdf:type schema:CreativeWork
    675 https://doi.org/10.1093/nar/gkt850 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022262054
    676 rdf:type schema:CreativeWork
    677 https://doi.org/10.1097/01.hco.0000221578.18254.70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022808230
    678 rdf:type schema:CreativeWork
    679 https://doi.org/10.1101/gad.11.8.1048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042967809
    680 rdf:type schema:CreativeWork
    681 https://doi.org/10.1101/gad.11.8.1061 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036284529
    682 rdf:type schema:CreativeWork
    683 https://doi.org/10.1101/gr.137323.112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034124863
    684 rdf:type schema:CreativeWork
    685 https://doi.org/10.1136/heart.83.1.81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011535311
    686 rdf:type schema:CreativeWork
    687 https://doi.org/10.1136/jmg.2004.026740 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031083311
    688 rdf:type schema:CreativeWork
    689 https://doi.org/10.1136/jmg.2007.052183 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027623961
    690 rdf:type schema:CreativeWork
    691 https://doi.org/10.1155/2012/145202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046654589
    692 rdf:type schema:CreativeWork
    693 https://doi.org/10.1161/01.cir.0000155623.48408.c5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026597336
    694 rdf:type schema:CreativeWork
    695 https://doi.org/10.1161/01.res.0000141429.13560.cb schema:sameAs https://app.dimensions.ai/details/publication/pub.1022608006
    696 rdf:type schema:CreativeWork
    697 https://doi.org/10.1161/atvbaha.113.302071 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000999640
    698 rdf:type schema:CreativeWork
    699 https://doi.org/10.1161/circgenetics.115.001324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023103542
    700 rdf:type schema:CreativeWork
    701 https://doi.org/10.1161/circulationaha.107.740878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034937897
    702 rdf:type schema:CreativeWork
    703 https://doi.org/10.1172/jci44555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048889562
    704 rdf:type schema:CreativeWork
    705 https://doi.org/10.1242/dev.02519 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053435276
    706 rdf:type schema:CreativeWork
    707 https://doi.org/10.1242/dev.063495 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000153760
    708 rdf:type schema:CreativeWork
    709 https://doi.org/10.12659/msm.882877 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049064738
    710 rdf:type schema:CreativeWork
    711 https://doi.org/10.1371/journal.pgen.1000529 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043446290
    712 rdf:type schema:CreativeWork
    713 https://doi.org/10.1371/journal.pone.0008830 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036904748
    714 rdf:type schema:CreativeWork
    715 https://doi.org/10.1371/journal.pone.0062138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045077694
    716 rdf:type schema:CreativeWork
    717 https://doi.org/10.1371/journal.pone.0064496 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050702552
    718 rdf:type schema:CreativeWork
    719 https://doi.org/10.3892/ijmm.2011.715 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071507017
    720 rdf:type schema:CreativeWork
    721 https://doi.org/10.5114/aoms.2013.39788 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041480734
    722 rdf:type schema:CreativeWork
    723 https://www.grid.ac/institutes/grid.1006.7 schema:alternateName Newcastle University
    724 schema:name Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne NE1 3BZ, UK
    725 rdf:type schema:Organization
    726 https://www.grid.ac/institutes/grid.14848.31 schema:alternateName University of Montreal
    727 schema:name Department of Medicine, Université de Montréal, Montreal, Quebec, Canada QC H3T 1J4
    728 Montreal Heart Institute, Montreal, Quebec, Canada HIT 1C8
    729 rdf:type schema:Organization
    730 https://www.grid.ac/institutes/grid.214458.e schema:alternateName University of Michigan–Ann Arbor
    731 schema:name Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA
    732 Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
    733 Department of Cardiac Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA
    734 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA
    735 Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA
    736 Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
    737 Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA
    738 Frankel Cardiovascular Center, University of Michigan, Ann Arbor, Michigan 48109, USA
    739 rdf:type schema:Organization
    740 https://www.grid.ac/institutes/grid.498924.a schema:alternateName Manchester University NHS Foundation Trust
    741 schema:name Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK
    742 Manchester Heart Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK
    743 rdf:type schema:Organization
    744 https://www.grid.ac/institutes/grid.5170.3 schema:alternateName Technical University of Denmark
    745 schema:name Cardiovascular Medicine Unit, Center for Molecular Medicine, Department of Medicine, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm SE-171 76, Sweden
    746 Center for Biological Sequence Analysis, Technical University of Denmark, Copenhagen DK-2800, Denmark
    747 rdf:type schema:Organization
    748 https://www.grid.ac/institutes/grid.5947.f schema:alternateName Norwegian University of Science and Technology
    749 schema:name Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
    750 Norwegian University of Science and Technology, Trondheim 7491, Norway
    751 rdf:type schema:Organization
    752 https://www.grid.ac/institutes/grid.59734.3c schema:alternateName Icahn School of Medicine at Mount Sinai
    753 schema:name The Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
    754 The Mindich Child Health Development Institute, The Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
    755 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...