NSD1 mutations generate a genome-wide DNA methylation signature View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12-22

AUTHORS

S Choufani, C Cytrynbaum, B H Y Chung, A L Turinsky, D Grafodatskaya, Y A Chen, A S A Cohen, L Dupuis, D T Butcher, M T Siu, H M Luk, I F M Lo, S T S Lam, O Caluseriu, D J Stavropoulos, W Reardon, R Mendoza-Londono, M Brudno, W T Gibson, D Chitayat, R Weksberg

ABSTRACT

Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1(+/-) signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing. More... »

PAGES

10207

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

6

Author Affiliations

  • Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
  • Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
  • Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, 6/F, William MW Mong Block, 21 Sassoon Road, Pokfulam, Hong Kong.
  • Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
  • Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.
  • Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA.
  • Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.
  • Department of Medical Genetics, University of Alberta, 116 Street and 85 Avenue, Edmonton, Alberta, Canada T6G 2R3.
  • Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
  • Our Lady's Hospital for Sick Children, Crumlin D12 N512 Ireland.
  • Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
  • Department of Computer Science, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
  • Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms10207

    DOI

    http://dx.doi.org/10.1038/ncomms10207

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1047847576

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26690673


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Methylation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Regulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Histone Methyltransferases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Histone-Lysine N-Methyltransferase", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Intracellular Signaling Peptides and Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nuclear Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sotos Syndrome", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Choufani", 
            "givenName": "S", 
            "id": "sg:person.01302467235.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302467235.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cytrynbaum", 
            "givenName": "C", 
            "id": "sg:person.01302460622.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302460622.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, 6/F, William MW Mong Block, 21 Sassoon Road, Pokfulam, Hong Kong.", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, 6/F, William MW Mong Block, 21 Sassoon Road, Pokfulam, Hong Kong."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chung", 
            "givenName": "B H Y", 
            "id": "sg:person.015515161657.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015515161657.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Turinsky", 
            "givenName": "A L", 
            "id": "sg:person.01237055311.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237055311.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Grafodatskaya", 
            "givenName": "D", 
            "id": "sg:person.01263145573.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01263145573.10"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chen", 
            "givenName": "Y A", 
            "id": "sg:person.0674451150.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674451150.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA.", 
              "id": "http://www.grid.ac/institutes/grid.456262.1", 
              "name": [
                "Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cohen", 
            "givenName": "A S A", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dupuis", 
            "givenName": "L", 
            "id": "sg:person.01025277427.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025277427.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Butcher", 
            "givenName": "D T", 
            "id": "sg:person.0674342531.40", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674342531.40"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Siu", 
            "givenName": "M T", 
            "id": "sg:person.01043202020.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043202020.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.", 
              "id": "http://www.grid.ac/institutes/grid.461944.a", 
              "name": [
                "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Luk", 
            "givenName": "H M", 
            "id": "sg:person.01104665073.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104665073.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.", 
              "id": "http://www.grid.ac/institutes/grid.461944.a", 
              "name": [
                "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lo", 
            "givenName": "I F M", 
            "id": "sg:person.012146547462.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012146547462.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.", 
              "id": "http://www.grid.ac/institutes/grid.461944.a", 
              "name": [
                "Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lam", 
            "givenName": "S T S", 
            "id": "sg:person.07504055442.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07504055442.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, University of Alberta, 116 Street and 85 Avenue, Edmonton, Alberta, Canada T6G 2R3.", 
              "id": "http://www.grid.ac/institutes/grid.17089.37", 
              "name": [
                "Department of Medical Genetics, University of Alberta, 116 Street and 85 Avenue, Edmonton, Alberta, Canada T6G 2R3."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Caluseriu", 
            "givenName": "O", 
            "id": "sg:person.01351611057.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351611057.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Pediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stavropoulos", 
            "givenName": "D J", 
            "id": "sg:person.0755757140.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755757140.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Our Lady's Hospital for Sick Children, Crumlin D12 N512 Ireland.", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Our Lady's Hospital for Sick Children, Crumlin D12 N512 Ireland."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Reardon", 
            "givenName": "W", 
            "id": "sg:person.01243403022.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243403022.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mendoza-Londono", 
            "givenName": "R", 
            "id": "sg:person.01111140310.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111140310.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Computer Science, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Computer Science, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brudno", 
            "givenName": "M", 
            "id": "sg:person.01253563237.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253563237.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA.", 
              "id": "http://www.grid.ac/institutes/grid.456262.1", 
              "name": [
                "Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gibson", 
            "givenName": "W T", 
            "id": "sg:person.01035001362.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035001362.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5.", 
              "id": "http://www.grid.ac/institutes/grid.416166.2", 
              "name": [
                "Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
                "Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
                "Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chitayat", 
            "givenName": "D", 
            "id": "sg:person.01220366033.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220366033.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.", 
                "Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.", 
                "Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.", 
                "Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Weksberg", 
            "givenName": "R", 
            "id": "sg:person.0701640006.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701640006.56"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nmeth0410-248", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007489634", 
              "https://doi.org/10.1038/nmeth0410-248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5201686", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042221315", 
              "https://doi.org/10.1038/sj.ejhg.5201686"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1630", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023421025", 
              "https://doi.org/10.1038/nbt.1630"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1755-8794-6-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011277564", 
              "https://doi.org/10.1186/1755-8794-6-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2540", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027423279", 
              "https://doi.org/10.1038/nrg2540"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2008.211", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039987283", 
              "https://doi.org/10.1038/nprot.2008.211"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth0810-575", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028459136", 
              "https://doi.org/10.1038/nmeth0810-575"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng863", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043432266", 
              "https://doi.org/10.1038/ng863"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2917", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048994284", 
              "https://doi.org/10.1038/ng.2917"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-2-36", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030005228", 
              "https://doi.org/10.1186/1750-1172-2-36"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2015-12-22", 
        "datePublishedReg": "2015-12-22", 
        "description": "Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1(+/-) signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing. ", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ncomms10207", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1043282", 
            "issn": [
              "2041-1723"
            ], 
            "name": "Nature Communications", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "6"
          }
        ], 
        "keywords": [
          "DNA methylation", 
          "genome-wide DNA methylation signature", 
          "genome-wide impact", 
          "stable epigenetic mark", 
          "DNA methylation signatures", 
          "epigenetic marks", 
          "cellular morphogenesis", 
          "epigenetic regulation", 
          "human model system", 
          "epigenetic modifications", 
          "histone methyltransferase", 
          "intellectual disability syndrome", 
          "methylation signatures", 
          "neuronal differentiation", 
          "NSD1 mutations", 
          "Sotos syndrome", 
          "mutations", 
          "molecular pathophysiology", 
          "model system", 
          "disability syndrome", 
          "DNAm alterations", 
          "specific signatures", 
          "Weaver syndrome", 
          "morphogenesis", 
          "methylation", 
          "genes", 
          "methyltransferase", 
          "NSD1", 
          "SS phenotype", 
          "phenotype", 
          "independent cohort", 
          "regulation", 
          "differentiation", 
          "signatures", 
          "elucidation", 
          "variants", 
          "identification", 
          "alterations", 
          "cardinal features", 
          "marks", 
          "modification", 
          "control", 
          "development", 
          "study", 
          "syndrome", 
          "pathophysiology", 
          "SS patients", 
          "features", 
          "impact", 
          "system", 
          "samples", 
          "validation study", 
          "diagnostic testing", 
          "cohort", 
          "testing", 
          "patients", 
          "important human model system", 
          "pathogenic NSD1 mutations", 
          "benign NSD1 variants", 
          "NSD1 variants", 
          "SS-specific genome-wide DNAm alterations", 
          "genome-wide DNAm alterations"
        ], 
        "name": "NSD1 mutations generate a genome-wide DNA methylation signature", 
        "pagination": "10207", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1047847576"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ncomms10207"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "26690673"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ncomms10207", 
          "https://app.dimensions.ai/details/publication/pub.1047847576"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2021-12-01T19:33", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_668.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ncomms10207"
      }
    ]
     

    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/ncomms10207'

    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/ncomms10207'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ncomms10207'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ncomms10207'


     

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

    380 TRIPLES      22 PREDICATES      108 URIs      90 LITERALS      17 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ncomms10207 schema:about N1a04413328c64a5085818fcb6d521001
    2 N1bc590f2516e4206b6ebe65c760b04e4
    3 N5206704ccaca4c2598e8397c8f5506aa
    4 N5d49b79e3073479a92e8eeedf3f397cb
    5 N67234b3b32ea443cbee7390af14dbfb3
    6 N717bedde8c4842219b196f349cc12ee8
    7 N757d49cfe34c453091cf37fc1738d3db
    8 N9f98c095e0594d289db4e091d6528a45
    9 Nbf12b70740cf450d8a59dc2c47f6f7b7
    10 Nd7d9061e91ed4e72b6d11713c8711f70
    11 anzsrc-for:06
    12 anzsrc-for:0604
    13 schema:author N7c5e929b0a2e433287d1b018f51ec1d4
    14 schema:citation sg:pub.10.1038/nbt.1630
    15 sg:pub.10.1038/ng.2917
    16 sg:pub.10.1038/ng863
    17 sg:pub.10.1038/nmeth0410-248
    18 sg:pub.10.1038/nmeth0810-575
    19 sg:pub.10.1038/nprot.2008.211
    20 sg:pub.10.1038/nrg2540
    21 sg:pub.10.1038/sj.ejhg.5201686
    22 sg:pub.10.1186/1750-1172-2-36
    23 sg:pub.10.1186/1755-8794-6-1
    24 schema:datePublished 2015-12-22
    25 schema:datePublishedReg 2015-12-22
    26 schema:description Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1(+/-) signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing.
    27 schema:genre article
    28 schema:inLanguage en
    29 schema:isAccessibleForFree true
    30 schema:isPartOf N165802199e16476289b3f8d550ea3f96
    31 N4844c77e46324ff4a996b07bf137af44
    32 sg:journal.1043282
    33 schema:keywords DNA methylation
    34 DNA methylation signatures
    35 DNAm alterations
    36 NSD1
    37 NSD1 mutations
    38 NSD1 variants
    39 SS patients
    40 SS phenotype
    41 SS-specific genome-wide DNAm alterations
    42 Sotos syndrome
    43 Weaver syndrome
    44 alterations
    45 benign NSD1 variants
    46 cardinal features
    47 cellular morphogenesis
    48 cohort
    49 control
    50 development
    51 diagnostic testing
    52 differentiation
    53 disability syndrome
    54 elucidation
    55 epigenetic marks
    56 epigenetic modifications
    57 epigenetic regulation
    58 features
    59 genes
    60 genome-wide DNA methylation signature
    61 genome-wide DNAm alterations
    62 genome-wide impact
    63 histone methyltransferase
    64 human model system
    65 identification
    66 impact
    67 important human model system
    68 independent cohort
    69 intellectual disability syndrome
    70 marks
    71 methylation
    72 methylation signatures
    73 methyltransferase
    74 model system
    75 modification
    76 molecular pathophysiology
    77 morphogenesis
    78 mutations
    79 neuronal differentiation
    80 pathogenic NSD1 mutations
    81 pathophysiology
    82 patients
    83 phenotype
    84 regulation
    85 samples
    86 signatures
    87 specific signatures
    88 stable epigenetic mark
    89 study
    90 syndrome
    91 system
    92 testing
    93 validation study
    94 variants
    95 schema:name NSD1 mutations generate a genome-wide DNA methylation signature
    96 schema:pagination 10207
    97 schema:productId N883e005696f04ddeab194ee0411066a8
    98 Nd84dfad03fe34c96ac4e73e57e990dab
    99 Ne0f9848751dd4c2ca430da2ab2c44e57
    100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047847576
    101 https://doi.org/10.1038/ncomms10207
    102 schema:sdDatePublished 2021-12-01T19:33
    103 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    104 schema:sdPublisher N76e794bca7064681aa729d68464d7510
    105 schema:url https://doi.org/10.1038/ncomms10207
    106 sgo:license sg:explorer/license/
    107 sgo:sdDataset articles
    108 rdf:type schema:ScholarlyArticle
    109 N1113bf659ec14c4a9d867a6e1369164f rdf:first sg:person.0674451150.84
    110 rdf:rest N82cca0515daa41178ee747a9d842d249
    111 N165802199e16476289b3f8d550ea3f96 schema:issueNumber 1
    112 rdf:type schema:PublicationIssue
    113 N19e8c9ba8d244a6389886659603f170e rdf:first sg:person.01351611057.82
    114 rdf:rest Naac4c787c2504de8b355fb6acacc5525
    115 N1a04413328c64a5085818fcb6d521001 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    116 schema:name Humans
    117 rdf:type schema:DefinedTerm
    118 N1bc590f2516e4206b6ebe65c760b04e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    119 schema:name Gene Expression Regulation
    120 rdf:type schema:DefinedTerm
    121 N3979ec46e01540eda35f69b4b6c08611 rdf:first sg:person.07504055442.66
    122 rdf:rest N19e8c9ba8d244a6389886659603f170e
    123 N400bb6cdf63441b988f6cc1065572136 rdf:first sg:person.01237055311.23
    124 rdf:rest Na8a8d33e5ed949c880fc9cffbf737ecd
    125 N46e2d9b9f74d4e55b38ecabf301f9f6c rdf:first sg:person.0701640006.56
    126 rdf:rest rdf:nil
    127 N4844c77e46324ff4a996b07bf137af44 schema:volumeNumber 6
    128 rdf:type schema:PublicationVolume
    129 N4e45110dcc1f47d99f27fe024ba0da00 rdf:first sg:person.01025277427.77
    130 rdf:rest N6c88a45592514def9adfc0eb01ccbf0b
    131 N513378d20bda4438b08b2fd95c14541a rdf:first sg:person.01111140310.85
    132 rdf:rest N6c093be08b6147aab07ec6ad290c630f
    133 N5206704ccaca4c2598e8397c8f5506aa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Genome, Human
    135 rdf:type schema:DefinedTerm
    136 N5d49b79e3073479a92e8eeedf3f397cb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    137 schema:name Intracellular Signaling Peptides and Proteins
    138 rdf:type schema:DefinedTerm
    139 N62b0ae356f3a4581bcc1d182faaeeee3 rdf:first sg:person.012146547462.82
    140 rdf:rest N3979ec46e01540eda35f69b4b6c08611
    141 N67234b3b32ea443cbee7390af14dbfb3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name DNA Methylation
    143 rdf:type schema:DefinedTerm
    144 N6c093be08b6147aab07ec6ad290c630f rdf:first sg:person.01253563237.25
    145 rdf:rest N988fe17d5c4e4d8fa712b86fbcaa7a44
    146 N6c88a45592514def9adfc0eb01ccbf0b rdf:first sg:person.0674342531.40
    147 rdf:rest Nd2b2dc8f36e04cbd914314cf30739564
    148 N717bedde8c4842219b196f349cc12ee8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    149 schema:name Sotos Syndrome
    150 rdf:type schema:DefinedTerm
    151 N757d49cfe34c453091cf37fc1738d3db schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    152 schema:name Nuclear Proteins
    153 rdf:type schema:DefinedTerm
    154 N76e794bca7064681aa729d68464d7510 schema:name Springer Nature - SN SciGraph project
    155 rdf:type schema:Organization
    156 N7c5e929b0a2e433287d1b018f51ec1d4 rdf:first sg:person.01302467235.22
    157 rdf:rest N8ab2e68f38854c498c98f3a17bb9a074
    158 N82be69d4580c4c54860fb2066129e767 rdf:first sg:person.01104665073.51
    159 rdf:rest N62b0ae356f3a4581bcc1d182faaeeee3
    160 N82cca0515daa41178ee747a9d842d249 rdf:first N841fbd5787e54947b396f4cb634453ab
    161 rdf:rest N4e45110dcc1f47d99f27fe024ba0da00
    162 N841fbd5787e54947b396f4cb634453ab schema:affiliation grid-institutes:grid.456262.1
    163 schema:familyName Cohen
    164 schema:givenName A S A
    165 rdf:type schema:Person
    166 N883e005696f04ddeab194ee0411066a8 schema:name dimensions_id
    167 schema:value pub.1047847576
    168 rdf:type schema:PropertyValue
    169 N8ab2e68f38854c498c98f3a17bb9a074 rdf:first sg:person.01302460622.13
    170 rdf:rest Nb319e00ea95545ed9d550ec91637de40
    171 N988fe17d5c4e4d8fa712b86fbcaa7a44 rdf:first sg:person.01035001362.30
    172 rdf:rest Ne7a1bb12ca8b403cae9215378e3afa72
    173 N9f98c095e0594d289db4e091d6528a45 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Mutation
    175 rdf:type schema:DefinedTerm
    176 Na8a8d33e5ed949c880fc9cffbf737ecd rdf:first sg:person.01263145573.10
    177 rdf:rest N1113bf659ec14c4a9d867a6e1369164f
    178 Naac4c787c2504de8b355fb6acacc5525 rdf:first sg:person.0755757140.31
    179 rdf:rest Ne44fe5d4896d4346a20cbfa5ee532bd6
    180 Nb319e00ea95545ed9d550ec91637de40 rdf:first sg:person.015515161657.16
    181 rdf:rest N400bb6cdf63441b988f6cc1065572136
    182 Nbf12b70740cf450d8a59dc2c47f6f7b7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name Histone Methyltransferases
    184 rdf:type schema:DefinedTerm
    185 Nd2b2dc8f36e04cbd914314cf30739564 rdf:first sg:person.01043202020.31
    186 rdf:rest N82be69d4580c4c54860fb2066129e767
    187 Nd7d9061e91ed4e72b6d11713c8711f70 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    188 schema:name Histone-Lysine N-Methyltransferase
    189 rdf:type schema:DefinedTerm
    190 Nd84dfad03fe34c96ac4e73e57e990dab schema:name doi
    191 schema:value 10.1038/ncomms10207
    192 rdf:type schema:PropertyValue
    193 Ne0f9848751dd4c2ca430da2ab2c44e57 schema:name pubmed_id
    194 schema:value 26690673
    195 rdf:type schema:PropertyValue
    196 Ne44fe5d4896d4346a20cbfa5ee532bd6 rdf:first sg:person.01243403022.55
    197 rdf:rest N513378d20bda4438b08b2fd95c14541a
    198 Ne7a1bb12ca8b403cae9215378e3afa72 rdf:first sg:person.01220366033.14
    199 rdf:rest N46e2d9b9f74d4e55b38ecabf301f9f6c
    200 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    201 schema:name Biological Sciences
    202 rdf:type schema:DefinedTerm
    203 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    204 schema:name Genetics
    205 rdf:type schema:DefinedTerm
    206 sg:journal.1043282 schema:issn 2041-1723
    207 schema:name Nature Communications
    208 schema:publisher Springer Nature
    209 rdf:type schema:Periodical
    210 sg:person.01025277427.77 schema:affiliation grid-institutes:grid.17063.33
    211 schema:familyName Dupuis
    212 schema:givenName L
    213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025277427.77
    214 rdf:type schema:Person
    215 sg:person.01035001362.30 schema:affiliation grid-institutes:grid.456262.1
    216 schema:familyName Gibson
    217 schema:givenName W T
    218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035001362.30
    219 rdf:type schema:Person
    220 sg:person.01043202020.31 schema:affiliation grid-institutes:grid.42327.30
    221 schema:familyName Siu
    222 schema:givenName M T
    223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043202020.31
    224 rdf:type schema:Person
    225 sg:person.01104665073.51 schema:affiliation grid-institutes:grid.461944.a
    226 schema:familyName Luk
    227 schema:givenName H M
    228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104665073.51
    229 rdf:type schema:Person
    230 sg:person.01111140310.85 schema:affiliation grid-institutes:grid.17063.33
    231 schema:familyName Mendoza-Londono
    232 schema:givenName R
    233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111140310.85
    234 rdf:type schema:Person
    235 sg:person.012146547462.82 schema:affiliation grid-institutes:grid.461944.a
    236 schema:familyName Lo
    237 schema:givenName I F M
    238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012146547462.82
    239 rdf:type schema:Person
    240 sg:person.01220366033.14 schema:affiliation grid-institutes:grid.416166.2
    241 schema:familyName Chitayat
    242 schema:givenName D
    243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220366033.14
    244 rdf:type schema:Person
    245 sg:person.01237055311.23 schema:affiliation grid-institutes:grid.42327.30
    246 schema:familyName Turinsky
    247 schema:givenName A L
    248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237055311.23
    249 rdf:type schema:Person
    250 sg:person.01243403022.55 schema:affiliation grid-institutes:None
    251 schema:familyName Reardon
    252 schema:givenName W
    253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243403022.55
    254 rdf:type schema:Person
    255 sg:person.01253563237.25 schema:affiliation grid-institutes:grid.17063.33
    256 schema:familyName Brudno
    257 schema:givenName M
    258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253563237.25
    259 rdf:type schema:Person
    260 sg:person.01263145573.10 schema:affiliation grid-institutes:grid.42327.30
    261 schema:familyName Grafodatskaya
    262 schema:givenName D
    263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01263145573.10
    264 rdf:type schema:Person
    265 sg:person.01302460622.13 schema:affiliation grid-institutes:grid.17063.33
    266 schema:familyName Cytrynbaum
    267 schema:givenName C
    268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302460622.13
    269 rdf:type schema:Person
    270 sg:person.01302467235.22 schema:affiliation grid-institutes:grid.42327.30
    271 schema:familyName Choufani
    272 schema:givenName S
    273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302467235.22
    274 rdf:type schema:Person
    275 sg:person.01351611057.82 schema:affiliation grid-institutes:grid.17089.37
    276 schema:familyName Caluseriu
    277 schema:givenName O
    278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351611057.82
    279 rdf:type schema:Person
    280 sg:person.015515161657.16 schema:affiliation grid-institutes:grid.194645.b
    281 schema:familyName Chung
    282 schema:givenName B H Y
    283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015515161657.16
    284 rdf:type schema:Person
    285 sg:person.0674342531.40 schema:affiliation grid-institutes:grid.42327.30
    286 schema:familyName Butcher
    287 schema:givenName D T
    288 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674342531.40
    289 rdf:type schema:Person
    290 sg:person.0674451150.84 schema:affiliation grid-institutes:grid.17063.33
    291 schema:familyName Chen
    292 schema:givenName Y A
    293 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674451150.84
    294 rdf:type schema:Person
    295 sg:person.0701640006.56 schema:affiliation grid-institutes:grid.17063.33
    296 schema:familyName Weksberg
    297 schema:givenName R
    298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701640006.56
    299 rdf:type schema:Person
    300 sg:person.07504055442.66 schema:affiliation grid-institutes:grid.461944.a
    301 schema:familyName Lam
    302 schema:givenName S T S
    303 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07504055442.66
    304 rdf:type schema:Person
    305 sg:person.0755757140.31 schema:affiliation grid-institutes:grid.17063.33
    306 schema:familyName Stavropoulos
    307 schema:givenName D J
    308 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755757140.31
    309 rdf:type schema:Person
    310 sg:pub.10.1038/nbt.1630 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023421025
    311 https://doi.org/10.1038/nbt.1630
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1038/ng.2917 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048994284
    314 https://doi.org/10.1038/ng.2917
    315 rdf:type schema:CreativeWork
    316 sg:pub.10.1038/ng863 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043432266
    317 https://doi.org/10.1038/ng863
    318 rdf:type schema:CreativeWork
    319 sg:pub.10.1038/nmeth0410-248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007489634
    320 https://doi.org/10.1038/nmeth0410-248
    321 rdf:type schema:CreativeWork
    322 sg:pub.10.1038/nmeth0810-575 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028459136
    323 https://doi.org/10.1038/nmeth0810-575
    324 rdf:type schema:CreativeWork
    325 sg:pub.10.1038/nprot.2008.211 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039987283
    326 https://doi.org/10.1038/nprot.2008.211
    327 rdf:type schema:CreativeWork
    328 sg:pub.10.1038/nrg2540 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027423279
    329 https://doi.org/10.1038/nrg2540
    330 rdf:type schema:CreativeWork
    331 sg:pub.10.1038/sj.ejhg.5201686 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042221315
    332 https://doi.org/10.1038/sj.ejhg.5201686
    333 rdf:type schema:CreativeWork
    334 sg:pub.10.1186/1750-1172-2-36 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030005228
    335 https://doi.org/10.1186/1750-1172-2-36
    336 rdf:type schema:CreativeWork
    337 sg:pub.10.1186/1755-8794-6-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011277564
    338 https://doi.org/10.1186/1755-8794-6-1
    339 rdf:type schema:CreativeWork
    340 grid-institutes:None schema:alternateName Our Lady's Hospital for Sick Children, Crumlin D12 N512 Ireland.
    341 schema:name Our Lady's Hospital for Sick Children, Crumlin D12 N512 Ireland.
    342 rdf:type schema:Organization
    343 grid-institutes:grid.17063.33 schema:alternateName Department of Computer Science, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    344 Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    345 Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    346 Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.
    347 Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    348 schema:name Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    349 Department of Computer Science, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    350 Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    351 Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    352 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    353 Institute of Medical Science, School of Graduate Studies, University of Toronto, 2374-1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.
    354 Laboratory Medicine and Pathobiology, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    355 Pediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    356 Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    357 rdf:type schema:Organization
    358 grid-institutes:grid.17089.37 schema:alternateName Department of Medical Genetics, University of Alberta, 116 Street and 85 Avenue, Edmonton, Alberta, Canada T6G 2R3.
    359 schema:name Department of Medical Genetics, University of Alberta, 116 Street and 85 Avenue, Edmonton, Alberta, Canada T6G 2R3.
    360 rdf:type schema:Organization
    361 grid-institutes:grid.194645.b schema:alternateName Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, 6/F, William MW Mong Block, 21 Sassoon Road, Pokfulam, Hong Kong.
    362 schema:name Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, 6/F, William MW Mong Block, 21 Sassoon Road, Pokfulam, Hong Kong.
    363 rdf:type schema:Organization
    364 grid-institutes:grid.416166.2 schema:alternateName Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
    365 schema:name Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    366 Department of Pediatrics, University of Toronto, 27 King's College Circle, Toronto, Ontario, Canada M5S 1A1.
    367 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    368 Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
    369 rdf:type schema:Organization
    370 grid-institutes:grid.42327.30 schema:alternateName Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    371 Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    372 schema:name Centre for Computational Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    373 Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
    374 rdf:type schema:Organization
    375 grid-institutes:grid.456262.1 schema:alternateName Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA.
    376 schema:name Department of Medical Genetics, UBC, Child and Family Research Institute, 950W 28th Avenue, Vancouver, British Columbia V5Z 4H4, USA.
    377 rdf:type schema:Organization
    378 grid-institutes:grid.461944.a schema:alternateName Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.
    379 schema:name Clinical Genetics Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, 1/F-3/F, 2 Kwong Lee Road, Sham Shui Po, Kowloon, Hong Kong.
    380 rdf:type schema:Organization
     




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


    ...