CEP152 is a genome maintenance protein disrupted in Seckel syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-12-05

AUTHORS

Ersan Kalay, Gökhan Yigit, Yakup Aslan, Karen E Brown, Esther Pohl, Louise S Bicknell, Hülya Kayserili, Yun Li, Beyhan Tüysüz, Gudrun Nürnberg, Wieland Kiess, Manfred Koegl, Ingelore Baessmann, Kurtulus Buruk, Bayram Toraman, Saadettin Kayipmaz, Sibel Kul, Mevlit Ikbal, Daniel J Turner, Martin S Taylor, Jan Aerts, Carol Scott, Karen Milstein, Helene Dollfus, Dagmar Wieczorek, Han G Brunner, Matthew Hurles, Andrew P Jackson, Anita Rauch, Peter Nürnberg, Ahmet Karagüzel, Bernd Wollnik

ABSTRACT

Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.

PAGES

23-26

Journal

TITLE

Nature Genetics

ISSUE

1

VOLUME

43

Author Affiliations

  • Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
  • Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
  • Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
  • Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
  • Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
  • Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
  • Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
  • Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
  • Cologne Center for Genomics, University of Cologne, Cologne, Germany
  • Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
  • Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany
  • Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
  • Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey
  • Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
  • Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
  • Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
  • Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa
  • Centre de Référence pour les Affections Rares Génétique Ophtalmologique, Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
  • Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
  • Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Institute of Medical Genetics, Zürich University, Zürich, Switzerland
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.725

    DOI

    http://dx.doi.org/10.1038/ng.725

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1049981821

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21131973


    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/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Cycle Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child, Preschool", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Damage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Dwarfism", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Facies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genomic Instability", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Histones", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Microcephaly", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phosphorylation", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kalay", 
            "givenName": "Ersan", 
            "id": "sg:person.01145750316.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145750316.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.452408.f", 
              "name": [
                "Institute of Human Genetics, University of Cologne, Cologne, Germany", 
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
                "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yigit", 
            "givenName": "G\u00f6khan", 
            "id": "sg:person.0703166255.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0703166255.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Aslan", 
            "givenName": "Yakup", 
            "id": "sg:person.01165431674.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165431674.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.413629.b", 
              "name": [
                "Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brown", 
            "givenName": "Karen E", 
            "id": "sg:person.0767524230.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767524230.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Institute of Human Genetics, University of Cologne, Cologne, Germany", 
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pohl", 
            "givenName": "Esther", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK", 
              "id": "http://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bicknell", 
            "givenName": "Louise S", 
            "id": "sg:person.01035373130.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035373130.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.9601.e", 
              "name": [
                "Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kayserili", 
            "givenName": "H\u00fclya", 
            "id": "sg:person.01026716422.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Institute of Human Genetics, University of Cologne, Cologne, Germany", 
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "Yun", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "T\u00fcys\u00fcz", 
            "givenName": "Beyhan", 
            "id": "sg:person.0761765664.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761765664.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cologne Center for Genomics, University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
                "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany", 
                "Cologne Center for Genomics, University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "N\u00fcrnberg", 
            "givenName": "Gudrun", 
            "id": "sg:person.0614661140.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614661140.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany", 
              "id": "http://www.grid.ac/institutes/grid.9647.c", 
              "name": [
                "Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kiess", 
            "givenName": "Wieland", 
            "id": "sg:person.0657440564.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657440564.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany", 
              "id": "http://www.grid.ac/institutes/grid.7497.d", 
              "name": [
                "Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Koegl", 
            "givenName": "Manfred", 
            "id": "sg:person.01151542414.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151542414.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cologne Center for Genomics, University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
                "Cologne Center for Genomics, University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baessmann", 
            "givenName": "Ingelore", 
            "id": "sg:person.01343756701.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343756701.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Buruk", 
            "givenName": "Kurtulus", 
            "id": "sg:person.0637224535.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637224535.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Toraman", 
            "givenName": "Bayram", 
            "id": "sg:person.01031521716.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031521716.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kayipmaz", 
            "givenName": "Saadettin", 
            "id": "sg:person.01014153351.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014153351.10"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kul", 
            "givenName": "Sibel", 
            "id": "sg:person.0673663243.81", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673663243.81"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ikbal", 
            "givenName": "Mevlit", 
            "id": "sg:person.01054272545.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054272545.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Turner", 
            "givenName": "Daniel J", 
            "id": "sg:person.01352235517.68", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352235517.68"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK", 
              "id": "http://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Taylor", 
            "givenName": "Martin S", 
            "id": "sg:person.01042774325.03", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042774325.03"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Aerts", 
            "givenName": "Jan", 
            "id": "sg:person.01101136424.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101136424.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Scott", 
            "givenName": "Carol", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa", 
              "id": "http://www.grid.ac/institutes/grid.11951.3d", 
              "name": [
                "Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Milstein", 
            "givenName": "Karen", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre de R\u00e9f\u00e9rence pour les Affections Rares G\u00e9n\u00e9tique Ophtalmologique, Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France", 
              "id": "http://www.grid.ac/institutes/grid.412220.7", 
              "name": [
                "Centre de R\u00e9f\u00e9rence pour les Affections Rares G\u00e9n\u00e9tique Ophtalmologique, Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dollfus", 
            "givenName": "Helene", 
            "id": "sg:person.01110344227.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110344227.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Essen, Germany", 
              "id": "http://www.grid.ac/institutes/grid.410718.b", 
              "name": [
                "Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Essen, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wieczorek", 
            "givenName": "Dagmar", 
            "id": "sg:person.01202565704.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202565704.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brunner", 
            "givenName": "Han G", 
            "id": "sg:person.013111306272.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013111306272.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hurles", 
            "givenName": "Matthew", 
            "id": "sg:person.015724616117.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015724616117.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK", 
              "id": "http://www.grid.ac/institutes/grid.417068.c", 
              "name": [
                "Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jackson", 
            "givenName": "Andrew P", 
            "id": "sg:person.014637465572.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014637465572.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Medical Genetics, Z\u00fcrich University, Z\u00fcrich, Switzerland", 
              "id": "http://www.grid.ac/institutes/grid.7400.3", 
              "name": [
                "Institute of Medical Genetics, Z\u00fcrich University, Z\u00fcrich, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rauch", 
            "givenName": "Anita", 
            "id": "sg:person.0633427323.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633427323.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cologne Center for Genomics, University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.6190.e", 
              "name": [
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
                "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany", 
                "Cologne Center for Genomics, University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "N\u00fcrnberg", 
            "givenName": "Peter", 
            "id": "sg:person.01142432564.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142432564.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey", 
              "id": "http://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Karag\u00fczel", 
            "givenName": "Ahmet", 
            "id": "sg:person.01205014564.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205014564.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany", 
              "id": "http://www.grid.ac/institutes/grid.452408.f", 
              "name": [
                "Institute of Human Genetics, University of Cologne, Cologne, Germany", 
                "Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany", 
                "Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wollnik", 
            "givenName": "Bernd", 
            "id": "sg:person.01256037226.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256037226.29"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nature02166", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030347441", 
              "https://doi.org/10.1038/nature02166"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1129", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001864576", 
              "https://doi.org/10.1038/ng1129"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrc2523", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034798234", 
              "https://doi.org/10.1038/nrc2523"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2007.80", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026972038", 
              "https://doi.org/10.1038/ng.2007.80"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.420", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052398161", 
              "https://doi.org/10.1038/ng.420"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrm2450", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034641993", 
              "https://doi.org/10.1038/nrm2450"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2010-12-05", 
        "datePublishedReg": "2010-12-05", 
        "description": "Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng.725", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2759028", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.7940769", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2774104", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2756866", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.7940847", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "43"
          }
        ], 
        "keywords": [
          "genome maintenance proteins", 
          "Seckel syndrome", 
          "genome maintenance", 
          "maintenance proteins", 
          "Cep152", 
          "severe microcephaly", 
          "protein", 
          "mutations", 
          "mental retardation", 
          "short stature", 
          "maintenance", 
          "microcephaly", 
          "function", 
          "retardation", 
          "stature", 
          "syndrome", 
          "work", 
          "colleagues", 
          "Bernd Wollnik", 
          "Wollnik"
        ], 
        "name": "CEP152 is a genome maintenance protein disrupted in Seckel syndrome", 
        "pagination": "23-26", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1049981821"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng.725"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "21131973"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng.725", 
          "https://app.dimensions.ai/details/publication/pub.1049981821"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2021-11-01T18:14", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20211101/entities/gbq_results/article/article_508.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng.725"
      }
    ]
     

    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/ng.725'

    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/ng.725'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.725'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.725'


     

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

    443 TRIPLES      22 PREDICATES      66 URIs      52 LITERALS      21 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng.725 schema:about N072c32189196444da976c1ce5d5ed17c
    2 N2897c7a28f6745e0ac1f82c076cf94b4
    3 N29002e7b75e2453dbf1015cf7ca230ca
    4 N34d007d168c240c188af0efa2e4be1f5
    5 N3cd7a3a682ca4b6cb172b17761a83c2a
    6 N54e1bb29a90945958d9504a72a429de7
    7 N77b32ac98c454b039ec1d06cfaeb0d31
    8 N7ce5936bfe0c47feaef2e2af118cace0
    9 N7d4981977d7a40c296cb9b0f6e054f80
    10 N8e157776c6c44be0a13e8a5df451d82e
    11 Nd4314b07e35d48aebc0861b86056b947
    12 Nd77df5d8f9fd4d249f54c7e6cef2c94c
    13 Ndb0159861a3e4183b1df8a5cd778ac25
    14 Ndf037e0672ce4f8e9b4e1f07e0a15bf8
    15 anzsrc-for:06
    16 anzsrc-for:11
    17 schema:author Nbea265f8941040ed94b1bbf5d3b7209c
    18 schema:citation sg:pub.10.1038/nature02166
    19 sg:pub.10.1038/ng.2007.80
    20 sg:pub.10.1038/ng.420
    21 sg:pub.10.1038/ng1129
    22 sg:pub.10.1038/nrc2523
    23 sg:pub.10.1038/nrm2450
    24 schema:datePublished 2010-12-05
    25 schema:datePublishedReg 2010-12-05
    26 schema:description Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.
    27 schema:genre article
    28 schema:inLanguage en
    29 schema:isAccessibleForFree true
    30 schema:isPartOf N21100faa6b6441cfb1d57e7db39e7939
    31 N8c91ff1d17e640909ce19df235d61521
    32 sg:journal.1103138
    33 schema:keywords Bernd Wollnik
    34 Cep152
    35 Seckel syndrome
    36 Wollnik
    37 colleagues
    38 function
    39 genome maintenance
    40 genome maintenance proteins
    41 maintenance
    42 maintenance proteins
    43 mental retardation
    44 microcephaly
    45 mutations
    46 protein
    47 retardation
    48 severe microcephaly
    49 short stature
    50 stature
    51 syndrome
    52 work
    53 schema:name CEP152 is a genome maintenance protein disrupted in Seckel syndrome
    54 schema:pagination 23-26
    55 schema:productId N532f430595094138867aecf91d098453
    56 Nd7a9311855a84e5b9bdc9dae7b8488cc
    57 Nd92ebfdedf3c45d8a21a59d68683ef0b
    58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049981821
    59 https://doi.org/10.1038/ng.725
    60 schema:sdDatePublished 2021-11-01T18:14
    61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    62 schema:sdPublisher N3168a2335ba941308db419759e161e8f
    63 schema:url https://doi.org/10.1038/ng.725
    64 sgo:license sg:explorer/license/
    65 sgo:sdDataset articles
    66 rdf:type schema:ScholarlyArticle
    67 N072c32189196444da976c1ce5d5ed17c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    68 schema:name Male
    69 rdf:type schema:DefinedTerm
    70 N0b45c7a391e64d30aae5fd03f9fa773c rdf:first Nfd0dfda79fa34c11bf562e2432e9a6d3
    71 rdf:rest N6f37010d67464c029f4b6441c80a76a3
    72 N1a3f36a17678486aa43cb10db32e8e78 rdf:first sg:person.0633427323.43
    73 rdf:rest Nea9b95b82a7b4fc5af1759676346170f
    74 N21100faa6b6441cfb1d57e7db39e7939 schema:issueNumber 1
    75 rdf:type schema:PublicationIssue
    76 N216d7cd3f02f4b6b943fa3894d566d45 rdf:first sg:person.01151542414.16
    77 rdf:rest N2671fc99813945eeb6186d6bb62ac87e
    78 N266f67a6d8974910b19aab62a856653e schema:affiliation grid-institutes:grid.6190.e
    79 schema:familyName Pohl
    80 schema:givenName Esther
    81 rdf:type schema:Person
    82 N2671fc99813945eeb6186d6bb62ac87e rdf:first sg:person.01343756701.54
    83 rdf:rest N7d7c09894fe84dffb9f13cfb014891ed
    84 N2897c7a28f6745e0ac1f82c076cf94b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    85 schema:name Histones
    86 rdf:type schema:DefinedTerm
    87 N29002e7b75e2453dbf1015cf7ca230ca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    88 schema:name Child
    89 rdf:type schema:DefinedTerm
    90 N3168a2335ba941308db419759e161e8f schema:name Springer Nature - SN SciGraph project
    91 rdf:type schema:Organization
    92 N344283702536419c85fa0f4020b503d3 rdf:first sg:person.0767524230.82
    93 rdf:rest N8c26821dd8eb486f884006e33db4d54e
    94 N34d007d168c240c188af0efa2e4be1f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    95 schema:name Humans
    96 rdf:type schema:DefinedTerm
    97 N36cbef6423bc44478ce32ef6b3a90db6 rdf:first sg:person.0673663243.81
    98 rdf:rest N600d015754ca4416b69682d1e9992c8b
    99 N3cd7a3a682ca4b6cb172b17761a83c2a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    100 schema:name Facies
    101 rdf:type schema:DefinedTerm
    102 N409b9c1d85b74446a238a5be30ff1991 rdf:first Nc3d7e1bd07ae4aa291f0bd81f00c8847
    103 rdf:rest Nc98e3a76aea74f9e969e1ccc24607161
    104 N4bcced8296b24cc4971c3ccea5979ed1 rdf:first sg:person.01205014564.90
    105 rdf:rest Nc5427174c34145d583294a2fdf7f5ffc
    106 N532f430595094138867aecf91d098453 schema:name doi
    107 schema:value 10.1038/ng.725
    108 rdf:type schema:PropertyValue
    109 N538d979137184c26a25d9f8fea029609 rdf:first sg:person.01042774325.03
    110 rdf:rest N7ad103a9cd964b95ae753228ea241a14
    111 N54e1bb29a90945958d9504a72a429de7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Mutation
    113 rdf:type schema:DefinedTerm
    114 N59127c19ba504ba3bab83f23a0ba14ca rdf:first sg:person.015724616117.08
    115 rdf:rest Na56509c4263c4fd4bac4382a00218215
    116 N600d015754ca4416b69682d1e9992c8b rdf:first sg:person.01054272545.14
    117 rdf:rest Nc434c9dffe3b4ff699bffaec32a176ba
    118 N6205d506826040ef924f2ef4dfa5ac18 rdf:first sg:person.01026716422.64
    119 rdf:rest N409b9c1d85b74446a238a5be30ff1991
    120 N6f37010d67464c029f4b6441c80a76a3 rdf:first Nd9885832e91b47c6a51abc56bbd882fa
    121 rdf:rest Na960c40492fd496fa642bd815fcde704
    122 N77b32ac98c454b039ec1d06cfaeb0d31 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    123 schema:name Microcephaly
    124 rdf:type schema:DefinedTerm
    125 N789eedcea63842e280a4089845307bb1 rdf:first sg:person.013111306272.18
    126 rdf:rest N59127c19ba504ba3bab83f23a0ba14ca
    127 N7ad103a9cd964b95ae753228ea241a14 rdf:first sg:person.01101136424.56
    128 rdf:rest N0b45c7a391e64d30aae5fd03f9fa773c
    129 N7ce5936bfe0c47feaef2e2af118cace0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name DNA Damage
    131 rdf:type schema:DefinedTerm
    132 N7d132f13895a4244a87bc8f70cc3885d rdf:first sg:person.0614661140.93
    133 rdf:rest Ndb2ae928740d4944b73568e16fc75b5d
    134 N7d4981977d7a40c296cb9b0f6e054f80 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    135 schema:name Genomic Instability
    136 rdf:type schema:DefinedTerm
    137 N7d7c09894fe84dffb9f13cfb014891ed rdf:first sg:person.0637224535.85
    138 rdf:rest N8d1b424491fb4f01ac1fde9e33f4013c
    139 N81b306789a7142dd8b649c1f99841b3e rdf:first sg:person.01202565704.42
    140 rdf:rest N789eedcea63842e280a4089845307bb1
    141 N81c63fe3b8c94ef7b646b661dc0716a8 rdf:first sg:person.01035373130.19
    142 rdf:rest N6205d506826040ef924f2ef4dfa5ac18
    143 N8c26821dd8eb486f884006e33db4d54e rdf:first N266f67a6d8974910b19aab62a856653e
    144 rdf:rest N81c63fe3b8c94ef7b646b661dc0716a8
    145 N8c91ff1d17e640909ce19df235d61521 schema:volumeNumber 43
    146 rdf:type schema:PublicationVolume
    147 N8d1b424491fb4f01ac1fde9e33f4013c rdf:first sg:person.01031521716.37
    148 rdf:rest Ndf526b80039444c0b3fdc42dbf5c8613
    149 N8e157776c6c44be0a13e8a5df451d82e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Genome, Human
    151 rdf:type schema:DefinedTerm
    152 Na56509c4263c4fd4bac4382a00218215 rdf:first sg:person.014637465572.14
    153 rdf:rest N1a3f36a17678486aa43cb10db32e8e78
    154 Na960c40492fd496fa642bd815fcde704 rdf:first sg:person.01110344227.95
    155 rdf:rest N81b306789a7142dd8b649c1f99841b3e
    156 Nbc4538db9b064e55bfa3d8c9037bda70 rdf:first sg:person.01165431674.61
    157 rdf:rest N344283702536419c85fa0f4020b503d3
    158 Nbea265f8941040ed94b1bbf5d3b7209c rdf:first sg:person.01145750316.92
    159 rdf:rest Nfba130251fea4178846369bbdf9048d8
    160 Nc3d7e1bd07ae4aa291f0bd81f00c8847 schema:affiliation grid-institutes:grid.6190.e
    161 schema:familyName Li
    162 schema:givenName Yun
    163 rdf:type schema:Person
    164 Nc434c9dffe3b4ff699bffaec32a176ba rdf:first sg:person.01352235517.68
    165 rdf:rest N538d979137184c26a25d9f8fea029609
    166 Nc5427174c34145d583294a2fdf7f5ffc rdf:first sg:person.01256037226.29
    167 rdf:rest rdf:nil
    168 Nc98e3a76aea74f9e969e1ccc24607161 rdf:first sg:person.0761765664.94
    169 rdf:rest N7d132f13895a4244a87bc8f70cc3885d
    170 Nd4314b07e35d48aebc0861b86056b947 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name Cell Cycle Proteins
    172 rdf:type schema:DefinedTerm
    173 Nd77df5d8f9fd4d249f54c7e6cef2c94c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Dwarfism
    175 rdf:type schema:DefinedTerm
    176 Nd7a9311855a84e5b9bdc9dae7b8488cc schema:name dimensions_id
    177 schema:value pub.1049981821
    178 rdf:type schema:PropertyValue
    179 Nd92ebfdedf3c45d8a21a59d68683ef0b schema:name pubmed_id
    180 schema:value 21131973
    181 rdf:type schema:PropertyValue
    182 Nd9885832e91b47c6a51abc56bbd882fa schema:affiliation grid-institutes:grid.11951.3d
    183 schema:familyName Milstein
    184 schema:givenName Karen
    185 rdf:type schema:Person
    186 Ndb0159861a3e4183b1df8a5cd778ac25 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    187 schema:name Phosphorylation
    188 rdf:type schema:DefinedTerm
    189 Ndb2ae928740d4944b73568e16fc75b5d rdf:first sg:person.0657440564.85
    190 rdf:rest N216d7cd3f02f4b6b943fa3894d566d45
    191 Ndf037e0672ce4f8e9b4e1f07e0a15bf8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Child, Preschool
    193 rdf:type schema:DefinedTerm
    194 Ndf526b80039444c0b3fdc42dbf5c8613 rdf:first sg:person.01014153351.10
    195 rdf:rest N36cbef6423bc44478ce32ef6b3a90db6
    196 Nea9b95b82a7b4fc5af1759676346170f rdf:first sg:person.01142432564.72
    197 rdf:rest N4bcced8296b24cc4971c3ccea5979ed1
    198 Nfba130251fea4178846369bbdf9048d8 rdf:first sg:person.0703166255.78
    199 rdf:rest Nbc4538db9b064e55bfa3d8c9037bda70
    200 Nfd0dfda79fa34c11bf562e2432e9a6d3 schema:affiliation grid-institutes:grid.10306.34
    201 schema:familyName Scott
    202 schema:givenName Carol
    203 rdf:type schema:Person
    204 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    205 schema:name Biological Sciences
    206 rdf:type schema:DefinedTerm
    207 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    208 schema:name Medical and Health Sciences
    209 rdf:type schema:DefinedTerm
    210 sg:grant.2756866 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.725
    211 rdf:type schema:MonetaryGrant
    212 sg:grant.2759028 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.725
    213 rdf:type schema:MonetaryGrant
    214 sg:grant.2774104 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.725
    215 rdf:type schema:MonetaryGrant
    216 sg:grant.7940769 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.725
    217 rdf:type schema:MonetaryGrant
    218 sg:grant.7940847 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.725
    219 rdf:type schema:MonetaryGrant
    220 sg:journal.1103138 schema:issn 1061-4036
    221 1546-1718
    222 schema:name Nature Genetics
    223 schema:publisher Springer Nature
    224 rdf:type schema:Periodical
    225 sg:person.01014153351.10 schema:affiliation grid-institutes:grid.31564.35
    226 schema:familyName Kayipmaz
    227 schema:givenName Saadettin
    228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014153351.10
    229 rdf:type schema:Person
    230 sg:person.01026716422.64 schema:affiliation grid-institutes:grid.9601.e
    231 schema:familyName Kayserili
    232 schema:givenName Hülya
    233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64
    234 rdf:type schema:Person
    235 sg:person.01031521716.37 schema:affiliation grid-institutes:grid.31564.35
    236 schema:familyName Toraman
    237 schema:givenName Bayram
    238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031521716.37
    239 rdf:type schema:Person
    240 sg:person.01035373130.19 schema:affiliation grid-institutes:grid.417068.c
    241 schema:familyName Bicknell
    242 schema:givenName Louise S
    243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035373130.19
    244 rdf:type schema:Person
    245 sg:person.01042774325.03 schema:affiliation grid-institutes:grid.417068.c
    246 schema:familyName Taylor
    247 schema:givenName Martin S
    248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042774325.03
    249 rdf:type schema:Person
    250 sg:person.01054272545.14 schema:affiliation grid-institutes:grid.31564.35
    251 schema:familyName Ikbal
    252 schema:givenName Mevlit
    253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054272545.14
    254 rdf:type schema:Person
    255 sg:person.01101136424.56 schema:affiliation grid-institutes:grid.10306.34
    256 schema:familyName Aerts
    257 schema:givenName Jan
    258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101136424.56
    259 rdf:type schema:Person
    260 sg:person.01110344227.95 schema:affiliation grid-institutes:grid.412220.7
    261 schema:familyName Dollfus
    262 schema:givenName Helene
    263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110344227.95
    264 rdf:type schema:Person
    265 sg:person.01142432564.72 schema:affiliation grid-institutes:grid.6190.e
    266 schema:familyName Nürnberg
    267 schema:givenName Peter
    268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142432564.72
    269 rdf:type schema:Person
    270 sg:person.01145750316.92 schema:affiliation grid-institutes:grid.31564.35
    271 schema:familyName Kalay
    272 schema:givenName Ersan
    273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145750316.92
    274 rdf:type schema:Person
    275 sg:person.01151542414.16 schema:affiliation grid-institutes:grid.7497.d
    276 schema:familyName Koegl
    277 schema:givenName Manfred
    278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151542414.16
    279 rdf:type schema:Person
    280 sg:person.01165431674.61 schema:affiliation grid-institutes:grid.31564.35
    281 schema:familyName Aslan
    282 schema:givenName Yakup
    283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165431674.61
    284 rdf:type schema:Person
    285 sg:person.01202565704.42 schema:affiliation grid-institutes:grid.410718.b
    286 schema:familyName Wieczorek
    287 schema:givenName Dagmar
    288 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202565704.42
    289 rdf:type schema:Person
    290 sg:person.01205014564.90 schema:affiliation grid-institutes:grid.31564.35
    291 schema:familyName Karagüzel
    292 schema:givenName Ahmet
    293 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205014564.90
    294 rdf:type schema:Person
    295 sg:person.01256037226.29 schema:affiliation grid-institutes:grid.452408.f
    296 schema:familyName Wollnik
    297 schema:givenName Bernd
    298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256037226.29
    299 rdf:type schema:Person
    300 sg:person.013111306272.18 schema:affiliation grid-institutes:grid.10417.33
    301 schema:familyName Brunner
    302 schema:givenName Han G
    303 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013111306272.18
    304 rdf:type schema:Person
    305 sg:person.01343756701.54 schema:affiliation grid-institutes:grid.6190.e
    306 schema:familyName Baessmann
    307 schema:givenName Ingelore
    308 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343756701.54
    309 rdf:type schema:Person
    310 sg:person.01352235517.68 schema:affiliation grid-institutes:grid.10306.34
    311 schema:familyName Turner
    312 schema:givenName Daniel J
    313 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352235517.68
    314 rdf:type schema:Person
    315 sg:person.014637465572.14 schema:affiliation grid-institutes:grid.417068.c
    316 schema:familyName Jackson
    317 schema:givenName Andrew P
    318 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014637465572.14
    319 rdf:type schema:Person
    320 sg:person.015724616117.08 schema:affiliation grid-institutes:grid.10306.34
    321 schema:familyName Hurles
    322 schema:givenName Matthew
    323 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015724616117.08
    324 rdf:type schema:Person
    325 sg:person.0614661140.93 schema:affiliation grid-institutes:grid.6190.e
    326 schema:familyName Nürnberg
    327 schema:givenName Gudrun
    328 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614661140.93
    329 rdf:type schema:Person
    330 sg:person.0633427323.43 schema:affiliation grid-institutes:grid.7400.3
    331 schema:familyName Rauch
    332 schema:givenName Anita
    333 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633427323.43
    334 rdf:type schema:Person
    335 sg:person.0637224535.85 schema:affiliation grid-institutes:grid.31564.35
    336 schema:familyName Buruk
    337 schema:givenName Kurtulus
    338 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637224535.85
    339 rdf:type schema:Person
    340 sg:person.0657440564.85 schema:affiliation grid-institutes:grid.9647.c
    341 schema:familyName Kiess
    342 schema:givenName Wieland
    343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657440564.85
    344 rdf:type schema:Person
    345 sg:person.0673663243.81 schema:affiliation grid-institutes:grid.31564.35
    346 schema:familyName Kul
    347 schema:givenName Sibel
    348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673663243.81
    349 rdf:type schema:Person
    350 sg:person.0703166255.78 schema:affiliation grid-institutes:grid.452408.f
    351 schema:familyName Yigit
    352 schema:givenName Gökhan
    353 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0703166255.78
    354 rdf:type schema:Person
    355 sg:person.0761765664.94 schema:affiliation grid-institutes:None
    356 schema:familyName Tüysüz
    357 schema:givenName Beyhan
    358 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761765664.94
    359 rdf:type schema:Person
    360 sg:person.0767524230.82 schema:affiliation grid-institutes:grid.413629.b
    361 schema:familyName Brown
    362 schema:givenName Karen E
    363 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767524230.82
    364 rdf:type schema:Person
    365 sg:pub.10.1038/nature02166 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030347441
    366 https://doi.org/10.1038/nature02166
    367 rdf:type schema:CreativeWork
    368 sg:pub.10.1038/ng.2007.80 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026972038
    369 https://doi.org/10.1038/ng.2007.80
    370 rdf:type schema:CreativeWork
    371 sg:pub.10.1038/ng.420 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052398161
    372 https://doi.org/10.1038/ng.420
    373 rdf:type schema:CreativeWork
    374 sg:pub.10.1038/ng1129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001864576
    375 https://doi.org/10.1038/ng1129
    376 rdf:type schema:CreativeWork
    377 sg:pub.10.1038/nrc2523 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034798234
    378 https://doi.org/10.1038/nrc2523
    379 rdf:type schema:CreativeWork
    380 sg:pub.10.1038/nrm2450 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034641993
    381 https://doi.org/10.1038/nrm2450
    382 rdf:type schema:CreativeWork
    383 grid-institutes:None schema:alternateName Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    384 schema:name Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    385 rdf:type schema:Organization
    386 grid-institutes:grid.10306.34 schema:alternateName Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    387 schema:name Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    388 rdf:type schema:Organization
    389 grid-institutes:grid.10417.33 schema:alternateName Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    390 schema:name Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    391 rdf:type schema:Organization
    392 grid-institutes:grid.11951.3d schema:alternateName Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa
    393 schema:name Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa
    394 rdf:type schema:Organization
    395 grid-institutes:grid.31564.35 schema:alternateName Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    396 Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    397 Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    398 Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey
    399 Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    400 Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    401 schema:name Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    402 Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    403 Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    404 Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey
    405 Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    406 Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    407 rdf:type schema:Organization
    408 grid-institutes:grid.410718.b schema:alternateName Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
    409 schema:name Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
    410 rdf:type schema:Organization
    411 grid-institutes:grid.412220.7 schema:alternateName Centre de Référence pour les Affections Rares Génétique Ophtalmologique, Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    412 schema:name Centre de Référence pour les Affections Rares Génétique Ophtalmologique, Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    413 rdf:type schema:Organization
    414 grid-institutes:grid.413629.b schema:alternateName Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    415 schema:name Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    416 rdf:type schema:Organization
    417 grid-institutes:grid.417068.c schema:alternateName Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
    418 schema:name Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
    419 rdf:type schema:Organization
    420 grid-institutes:grid.452408.f schema:alternateName Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    421 schema:name Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
    422 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    423 Institute of Human Genetics, University of Cologne, Cologne, Germany
    424 rdf:type schema:Organization
    425 grid-institutes:grid.6190.e schema:alternateName Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
    426 Cologne Center for Genomics, University of Cologne, Cologne, Germany
    427 schema:name Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
    428 Cologne Center for Genomics, University of Cologne, Cologne, Germany
    429 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    430 Institute of Human Genetics, University of Cologne, Cologne, Germany
    431 rdf:type schema:Organization
    432 grid-institutes:grid.7400.3 schema:alternateName Institute of Medical Genetics, Zürich University, Zürich, Switzerland
    433 schema:name Institute of Medical Genetics, Zürich University, Zürich, Switzerland
    434 rdf:type schema:Organization
    435 grid-institutes:grid.7497.d schema:alternateName Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany
    436 schema:name Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany
    437 rdf:type schema:Organization
    438 grid-institutes:grid.9601.e schema:alternateName Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    439 schema:name Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    440 rdf:type schema:Organization
    441 grid-institutes:grid.9647.c schema:alternateName Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
    442 schema:name Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
    443 rdf:type schema:Organization
     




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


    ...