De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

Alina Hilger, Charlotte Schramm, Tracie Pennimpede, Lars Wittler, Gabriel C Dworschak, Enrika Bartels, Hartmut Engels, Alexander M Zink, Franziska Degenhardt, Annette M Müller, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Charlotte HW Wijers, Carlo LM Marcelis, Iris ALM van Rooij, Friedhelm Hildebrandt, Bernhard G Herrmann, Markus M Nöthen, Michael Ludwig, Heiko Reutter, Markus Draaken

ABSTRACT

The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients' parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one (SPATA17), two (CAPN10, GPR35), and three (EPPK1, PLEC, PARP10) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted. More... »

PAGES

1377

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2013.58

DOI

http://dx.doi.org/10.1038/ejhg.2013.58

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013728156

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23549274


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Anal Canal", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Anus, Imperforate", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Copy Number Variations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Esophagus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heart Defects, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Karyotyping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kidney", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Limb Deformities, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Radius", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Receptors, G-Protein-Coupled", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Trachea", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Michigan\u2013Ann Arbor", 
          "id": "https://www.grid.ac/institutes/grid.214458.e", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany", 
            "Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hilger", 
        "givenName": "Alina", 
        "id": "sg:person.01005113327.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005113327.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schramm", 
        "givenName": "Charlotte", 
        "id": "sg:person.01121341727.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121341727.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Max Planck Institute for Molecular Genetics", 
          "id": "https://www.grid.ac/institutes/grid.419538.2", 
          "name": [
            "Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pennimpede", 
        "givenName": "Tracie", 
        "id": "sg:person.01174073121.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174073121.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Max Planck Institute for Molecular Genetics", 
          "id": "https://www.grid.ac/institutes/grid.419538.2", 
          "name": [
            "Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wittler", 
        "givenName": "Lars", 
        "id": "sg:person.01055157341.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055157341.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dworschak", 
        "givenName": "Gabriel C", 
        "id": "sg:person.0737212772.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737212772.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bartels", 
        "givenName": "Enrika", 
        "id": "sg:person.01010754427.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010754427.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Engels", 
        "givenName": "Hartmut", 
        "id": "sg:person.0726172737.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726172737.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zink", 
        "givenName": "Alexander M", 
        "id": "sg:person.01045155415.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045155415.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Degenhardt", 
        "givenName": "Franziska", 
        "id": "sg:person.01116645026.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116645026.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Department of Paidopathology, Institute of Pathology, Medical Center, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00fcller", 
        "givenName": "Annette M", 
        "id": "sg:person.0725505544.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725505544.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen-Mitte, Bremen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schmiedeke", 
        "givenName": "Eberhard", 
        "id": "sg:person.0750453650.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750453650.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital of W\u00fcrzburg", 
          "id": "https://www.grid.ac/institutes/grid.411760.5", 
          "name": [
            "Department of Pediatric Surgery, University Hospital W\u00fcrzburg, W\u00fcrzburg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grasshoff-Derr", 
        "givenName": "Sabine", 
        "id": "sg:person.0611621237.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611621237.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Virchow Klinikum", 
          "id": "https://www.grid.ac/institutes/grid.418434.e", 
          "name": [
            "Department of Pediatric Surgery, Campus Virchow Clinic, Charite University Hospital Berlin, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00e4rzheuser", 
        "givenName": "Stefanie", 
        "id": "sg:person.01222331176.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222331176.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Technical University Munich", 
          "id": "https://www.grid.ac/institutes/grid.6936.a", 
          "name": [
            "Department of Pediatric Surgery, Klinikum Schwabing, Technische Universit\u00e4t M\u00fcnchen, M\u00fcnchen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hosie", 
        "givenName": "Stuart", 
        "id": "sg:person.0763124053.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763124053.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Heidelberg University", 
          "id": "https://www.grid.ac/institutes/grid.7700.0", 
          "name": [
            "Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Holland-Cunz", 
        "givenName": "Stefan", 
        "id": "sg:person.01120105726.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120105726.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Epidemiology, Biostatistics and HTA (133), Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wijers", 
        "givenName": "Charlotte HW", 
        "id": "sg:person.01102063523.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102063523.62"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marcelis", 
        "givenName": "Carlo LM", 
        "id": "sg:person.0751166645.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751166645.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Epidemiology, Biostatistics and HTA (133), Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Rooij", 
        "givenName": "Iris ALM", 
        "id": "sg:person.01043452523.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043452523.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Howard Hughes Medical Institute", 
          "id": "https://www.grid.ac/institutes/grid.413575.1", 
          "name": [
            "Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA", 
            "Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA", 
            "Howard Hughes Medical Institute, Chevy Chase, MD, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hildebrandt", 
        "givenName": "Friedhelm", 
        "id": "sg:person.0755436405.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755436405.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Campus Benjamin Franklin", 
          "id": "https://www.grid.ac/institutes/grid.412753.6", 
          "name": [
            "Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany", 
            "Charit\u00e9 University Medicine Berlin, Institute for Medical Genetics, Campus Benjamin Franklin, Berlin, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Herrmann", 
        "givenName": "Bernhard G", 
        "id": "sg:person.0635672753.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635672753.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "N\u00f6then", 
        "givenName": "Markus M", 
        "id": "sg:person.01072523061.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072523061.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ludwig", 
        "givenName": "Michael", 
        "id": "sg:person.01200214302.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200214302.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Neonatology, Children\u2019s Hospital, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reutter", 
        "givenName": "Heiko", 
        "id": "sg:person.0633310702.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633310702.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Bonn", 
          "id": "https://www.grid.ac/institutes/grid.10388.32", 
          "name": [
            "Institute of Human Genetics, University of Bonn, Bonn, Germany", 
            "Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Draaken", 
        "givenName": "Markus", 
        "id": "sg:person.0732234757.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732234757.00"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.bbrc.2010.03.169", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000850801"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2012.02.054", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001063940"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m303055200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002467806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.26.2.548-558.2006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006220072"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpedsurg.2007.07.030", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006937530"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkm076", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009468905"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.1000582", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010327687"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<8::aid-ajmg2>3.0.co;2-v", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013523126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(73)80024-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013566304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ydbio.2012.09.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016104892"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2011-2337", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016460410"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m603503200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017967960"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/bdra.20821", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020653878"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-010-0944-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022880386", 
          "https://doi.org/10.1007/s00439-010-0944-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-010-0944-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022880386", 
          "https://doi.org/10.1007/s00439-010-0944-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.38.2.e6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024653072"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029386848"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m109.018150", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034716395"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.0906-6705.2005.00324.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034723349"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0028-2243(79)90068-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035521180"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(77)80903-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038550447"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2010.84", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039595773", 
          "https://doi.org/10.1038/ejhg.2010.84"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2010.84", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039595773", 
          "https://doi.org/10.1038/ejhg.2010.84"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-3-13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039726647", 
          "https://doi.org/10.1186/1755-8166-3-13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33820", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040856806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33820", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040856806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441773", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041064724", 
          "https://doi.org/10.1007/bf00441773"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00441773", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041064724", 
          "https://doi.org/10.1007/bf00441773"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11033-010-0511-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041359617", 
          "https://doi.org/10.1007/s11033-010-0511-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2010.06.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041885414"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1747-0803.2011.00582.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043131296"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2009.90", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043378769", 
          "https://doi.org/10.1038/ejhg.2009.90"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2009.90", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043378769", 
          "https://doi.org/10.1038/ejhg.2009.90"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1745-7270.2006.00125.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045264091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1745-7270.2006.00125.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045264091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2010.09.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047687729"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1741-4520.2009.00228.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049946516"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1741-4520.2009.00228.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049946516"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.11.23.3143", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053567898"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1194/jlr.m900128", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064192954"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081985179", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083026881", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-12", 
    "datePublishedReg": "2013-12-01", 
    "description": "The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients' parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one (SPATA17), two (CAPN10, GPR35), and three (EPPK1, PLEC, PARP10) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ejhg.2013.58", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2670308", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2500162", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5564603", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "name": "De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association", 
    "pagination": "1377", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "4165f8cc264e80ace46d8c30ffc6c3230bdb6cf8f589e0c44cf91ca847b64b1b"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23549274"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ejhg.2013.58"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1013728156"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ejhg.2013.58", 
      "https://app.dimensions.ai/details/publication/pub.1013728156"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T21:25", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8687_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/ejhg201358"
  }
]
 

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/ejhg.2013.58'

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/ejhg.2013.58'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.58'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2013.58'


 

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

456 TRIPLES      21 PREDICATES      82 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ejhg.2013.58 schema:about N03455bf3e4da448f9fd564a3d43880a6
2 N03dd3318cb7f46b597e4ff2e56c74ca5
3 N1898a6d790f74e3d8d10c5fd23639ef6
4 N1bae0b5b6e804c1d9858fffed12ff1ac
5 N2044266cc805444aadb21c147007f87c
6 N283f63079c56467582a152a9ceb1a65d
7 N3ff07e0de0264896a01a512b02bea38e
8 N490116672510415fa3e60f69e3d0cfad
9 N4fc289b4d4914a2994fce668568dd2da
10 N5127b0e0635b4a3a925ec4b492480e0c
11 N616c7e3b6ece4c27add2779099f69f4c
12 N9e245d542a564b68b107dadbf466ea03
13 Ncc94202bbe57415abbebfceca3b5e338
14 Nd54fdc08f85e4b33aa804bd447dc387a
15 Ndf39d7e9722c4b15bf14b618652d52c1
16 Nea183ba9dba14836a2705f32eb0f3554
17 Nf18e6e1638c44ef18ac851cf09894043
18 Nf64c1913b11546f7967c021eed96871c
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author N66115af5b80644c78030578c313fb499
22 schema:citation sg:pub.10.1007/bf00441773
23 sg:pub.10.1007/s00439-010-0944-y
24 sg:pub.10.1007/s11033-010-0511-6
25 sg:pub.10.1038/ejhg.2009.90
26 sg:pub.10.1038/ejhg.2010.84
27 sg:pub.10.1186/1755-8166-3-13
28 https://app.dimensions.ai/details/publication/pub.1081985179
29 https://app.dimensions.ai/details/publication/pub.1083026881
30 https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<8::aid-ajmg2>3.0.co;2-v
31 https://doi.org/10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5
32 https://doi.org/10.1002/ajmg.a.33820
33 https://doi.org/10.1002/bdra.20821
34 https://doi.org/10.1016/0028-2243(79)90068-6
35 https://doi.org/10.1016/j.bbrc.2010.03.169
36 https://doi.org/10.1016/j.cell.2012.02.054
37 https://doi.org/10.1016/j.ejmg.2010.06.008
38 https://doi.org/10.1016/j.ejmg.2010.09.001
39 https://doi.org/10.1016/j.jpedsurg.2007.07.030
40 https://doi.org/10.1016/j.ydbio.2012.09.003
41 https://doi.org/10.1016/s0022-3476(73)80024-1
42 https://doi.org/10.1016/s0022-3476(77)80903-7
43 https://doi.org/10.1074/jbc.m109.018150
44 https://doi.org/10.1074/jbc.m303055200
45 https://doi.org/10.1074/jbc.m603503200
46 https://doi.org/10.1093/nar/gkm076
47 https://doi.org/10.1101/gad.11.23.3143
48 https://doi.org/10.1111/j.0906-6705.2005.00324.x
49 https://doi.org/10.1111/j.1741-4520.2009.00228.x
50 https://doi.org/10.1111/j.1745-7270.2006.00125.x
51 https://doi.org/10.1111/j.1747-0803.2011.00582.x
52 https://doi.org/10.1128/mcb.26.2.548-558.2006
53 https://doi.org/10.1136/jmg.38.2.e6
54 https://doi.org/10.1194/jlr.m900128
55 https://doi.org/10.1371/journal.pbio.1000582
56 https://doi.org/10.1542/peds.2011-2337
57 schema:datePublished 2013-12
58 schema:datePublishedReg 2013-12-01
59 schema:description The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients' parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one (SPATA17), two (CAPN10, GPR35), and three (EPPK1, PLEC, PARP10) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted.
60 schema:genre research_article
61 schema:inLanguage en
62 schema:isAccessibleForFree true
63 schema:isPartOf Nb9f082cb6d144d96b3c59371e62db092
64 Nc3fd10e848ad4fc0b93228e475207f1d
65 sg:journal.1103410
66 schema:name De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
67 schema:pagination 1377
68 schema:productId N08ab907d9300452dbf53534144c37269
69 N6ca921e13058481bb1400cc363001ded
70 Na5ab18db732d4d1781de95f5df10749b
71 Na5d9b09493d244bc8c67fbfb29707a6d
72 Naeadce28f9054d68b72f0b4c22e322dd
73 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013728156
74 https://doi.org/10.1038/ejhg.2013.58
75 schema:sdDatePublished 2019-04-10T21:25
76 schema:sdLicense https://scigraph.springernature.com/explorer/license/
77 schema:sdPublisher N6180766b644d48229eb2278da7205ea4
78 schema:url https://www.nature.com/articles/ejhg201358
79 sgo:license sg:explorer/license/
80 sgo:sdDataset articles
81 rdf:type schema:ScholarlyArticle
82 N03455bf3e4da448f9fd564a3d43880a6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Receptors, G-Protein-Coupled
84 rdf:type schema:DefinedTerm
85 N03dd3318cb7f46b597e4ff2e56c74ca5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Radius
87 rdf:type schema:DefinedTerm
88 N08ab907d9300452dbf53534144c37269 schema:name nlm_unique_id
89 schema:value 9302235
90 rdf:type schema:PropertyValue
91 N1898a6d790f74e3d8d10c5fd23639ef6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Karyotyping
93 rdf:type schema:DefinedTerm
94 N1bae0b5b6e804c1d9858fffed12ff1ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
95 schema:name Kidney
96 rdf:type schema:DefinedTerm
97 N1e161a2137434d1096517d8b83c98a16 rdf:first sg:person.0750453650.16
98 rdf:rest Ncfa9453b30cb4cae95ff759885916cf1
99 N2044266cc805444aadb21c147007f87c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Humans
101 rdf:type schema:DefinedTerm
102 N25ba3de97d824ddd82d332673f7a5319 rdf:first sg:person.01222331176.78
103 rdf:rest N888e662b8c204c4caf41bab42660c841
104 N283f63079c56467582a152a9ceb1a65d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Mice
106 rdf:type schema:DefinedTerm
107 N2d40870f3d354efc9c85c01a4723778f rdf:first sg:person.01116645026.59
108 rdf:rest N6050b0f1ba9d4d49857f2a4da0f43d70
109 N322cd5cd9b354574be650bd0c57a7410 rdf:first sg:person.01055157341.94
110 rdf:rest N90022f28de8f4e759743f98cbbb24e4d
111 N3ff07e0de0264896a01a512b02bea38e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name DNA Copy Number Variations
113 rdf:type schema:DefinedTerm
114 N43a5862e17014072bd63dac7b0ff2224 rdf:first sg:person.01120105726.50
115 rdf:rest Ndac349837a6f492cb0061c56bbf0ff7e
116 N43fd04cc89f049eaa89add10194f94cf rdf:first sg:person.01121341727.09
117 rdf:rest N719762af771f4660a18fa5dd45ab3537
118 N46f203892fcd44dcae3bca3db71975b4 rdf:first sg:person.0726172737.72
119 rdf:rest N9ea7e1e49c56464d835358d4d826e893
120 N490116672510415fa3e60f69e3d0cfad schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Male
122 rdf:type schema:DefinedTerm
123 N4fc289b4d4914a2994fce668568dd2da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Trachea
125 rdf:type schema:DefinedTerm
126 N50a2bfed60e9464cbee5e9b26ccd9a23 rdf:first sg:person.01072523061.22
127 rdf:rest N710e73fbc6c44708a75e39a95c51f440
128 N5127b0e0635b4a3a925ec4b492480e0c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Anal Canal
130 rdf:type schema:DefinedTerm
131 N5915e928086a407eabceef4554c5513e rdf:first sg:person.01010754427.87
132 rdf:rest N46f203892fcd44dcae3bca3db71975b4
133 N6050b0f1ba9d4d49857f2a4da0f43d70 rdf:first sg:person.0725505544.37
134 rdf:rest N1e161a2137434d1096517d8b83c98a16
135 N616c7e3b6ece4c27add2779099f69f4c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Esophagus
137 rdf:type schema:DefinedTerm
138 N6180766b644d48229eb2278da7205ea4 schema:name Springer Nature - SN SciGraph project
139 rdf:type schema:Organization
140 N66115af5b80644c78030578c313fb499 rdf:first sg:person.01005113327.38
141 rdf:rest N43fd04cc89f049eaa89add10194f94cf
142 N6ca921e13058481bb1400cc363001ded schema:name doi
143 schema:value 10.1038/ejhg.2013.58
144 rdf:type schema:PropertyValue
145 N710e73fbc6c44708a75e39a95c51f440 rdf:first sg:person.01200214302.18
146 rdf:rest N988231a663f047e48a6098ebdff0662f
147 N719762af771f4660a18fa5dd45ab3537 rdf:first sg:person.01174073121.40
148 rdf:rest N322cd5cd9b354574be650bd0c57a7410
149 N7672c3d7697b4ed89bae51457f69d35f rdf:first sg:person.01043452523.83
150 rdf:rest N7e0522625a6a4c7fb8b89eabb20e605d
151 N79d94ea515fd4005bd88077330410186 rdf:first sg:person.0635672753.53
152 rdf:rest N50a2bfed60e9464cbee5e9b26ccd9a23
153 N7e0522625a6a4c7fb8b89eabb20e605d rdf:first sg:person.0755436405.55
154 rdf:rest N79d94ea515fd4005bd88077330410186
155 N81864a1abc0b4e0ab7f6ed7ac2d8da89 rdf:first sg:person.0732234757.00
156 rdf:rest rdf:nil
157 N879e6df1c28942f5a6d1c41c999f33fd rdf:first sg:person.0751166645.35
158 rdf:rest N7672c3d7697b4ed89bae51457f69d35f
159 N888e662b8c204c4caf41bab42660c841 rdf:first sg:person.0763124053.10
160 rdf:rest N43a5862e17014072bd63dac7b0ff2224
161 N90022f28de8f4e759743f98cbbb24e4d rdf:first sg:person.0737212772.91
162 rdf:rest N5915e928086a407eabceef4554c5513e
163 N988231a663f047e48a6098ebdff0662f rdf:first sg:person.0633310702.00
164 rdf:rest N81864a1abc0b4e0ab7f6ed7ac2d8da89
165 N9e245d542a564b68b107dadbf466ea03 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Animals
167 rdf:type schema:DefinedTerm
168 N9ea7e1e49c56464d835358d4d826e893 rdf:first sg:person.01045155415.68
169 rdf:rest N2d40870f3d354efc9c85c01a4723778f
170 Na5ab18db732d4d1781de95f5df10749b schema:name dimensions_id
171 schema:value pub.1013728156
172 rdf:type schema:PropertyValue
173 Na5d9b09493d244bc8c67fbfb29707a6d schema:name pubmed_id
174 schema:value 23549274
175 rdf:type schema:PropertyValue
176 Naeadce28f9054d68b72f0b4c22e322dd schema:name readcube_id
177 schema:value 4165f8cc264e80ace46d8c30ffc6c3230bdb6cf8f589e0c44cf91ca847b64b1b
178 rdf:type schema:PropertyValue
179 Nb9f082cb6d144d96b3c59371e62db092 schema:issueNumber 12
180 rdf:type schema:PublicationIssue
181 Nc3fd10e848ad4fc0b93228e475207f1d schema:volumeNumber 21
182 rdf:type schema:PublicationVolume
183 Ncb0598e5304945d1bab4b3fbce03f8e5 schema:name Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen-Mitte, Bremen, Germany
184 rdf:type schema:Organization
185 Ncc94202bbe57415abbebfceca3b5e338 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Limb Deformities, Congenital
187 rdf:type schema:DefinedTerm
188 Ncfa9453b30cb4cae95ff759885916cf1 rdf:first sg:person.0611621237.28
189 rdf:rest N25ba3de97d824ddd82d332673f7a5319
190 Nd54fdc08f85e4b33aa804bd447dc387a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Abnormalities, Multiple
192 rdf:type schema:DefinedTerm
193 Ndac349837a6f492cb0061c56bbf0ff7e rdf:first sg:person.01102063523.62
194 rdf:rest N879e6df1c28942f5a6d1c41c999f33fd
195 Ndf39d7e9722c4b15bf14b618652d52c1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Spine
197 rdf:type schema:DefinedTerm
198 Nea183ba9dba14836a2705f32eb0f3554 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Anus, Imperforate
200 rdf:type schema:DefinedTerm
201 Nf18e6e1638c44ef18ac851cf09894043 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Heart Defects, Congenital
203 rdf:type schema:DefinedTerm
204 Nf64c1913b11546f7967c021eed96871c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
205 schema:name Female
206 rdf:type schema:DefinedTerm
207 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
208 schema:name Biological Sciences
209 rdf:type schema:DefinedTerm
210 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
211 schema:name Genetics
212 rdf:type schema:DefinedTerm
213 sg:grant.2500162 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2013.58
214 rdf:type schema:MonetaryGrant
215 sg:grant.2670308 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2013.58
216 rdf:type schema:MonetaryGrant
217 sg:grant.5564603 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2013.58
218 rdf:type schema:MonetaryGrant
219 sg:journal.1103410 schema:issn 1018-4813
220 1476-5438
221 schema:name European Journal of Human Genetics
222 rdf:type schema:Periodical
223 sg:person.01005113327.38 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
224 schema:familyName Hilger
225 schema:givenName Alina
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005113327.38
227 rdf:type schema:Person
228 sg:person.01010754427.87 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
229 schema:familyName Bartels
230 schema:givenName Enrika
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010754427.87
232 rdf:type schema:Person
233 sg:person.01043452523.83 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
234 schema:familyName van Rooij
235 schema:givenName Iris ALM
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043452523.83
237 rdf:type schema:Person
238 sg:person.01045155415.68 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
239 schema:familyName Zink
240 schema:givenName Alexander M
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045155415.68
242 rdf:type schema:Person
243 sg:person.01055157341.94 schema:affiliation https://www.grid.ac/institutes/grid.419538.2
244 schema:familyName Wittler
245 schema:givenName Lars
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055157341.94
247 rdf:type schema:Person
248 sg:person.01072523061.22 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
249 schema:familyName Nöthen
250 schema:givenName Markus M
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072523061.22
252 rdf:type schema:Person
253 sg:person.01102063523.62 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
254 schema:familyName Wijers
255 schema:givenName Charlotte HW
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102063523.62
257 rdf:type schema:Person
258 sg:person.01116645026.59 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
259 schema:familyName Degenhardt
260 schema:givenName Franziska
261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116645026.59
262 rdf:type schema:Person
263 sg:person.01120105726.50 schema:affiliation https://www.grid.ac/institutes/grid.7700.0
264 schema:familyName Holland-Cunz
265 schema:givenName Stefan
266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120105726.50
267 rdf:type schema:Person
268 sg:person.01121341727.09 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
269 schema:familyName Schramm
270 schema:givenName Charlotte
271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01121341727.09
272 rdf:type schema:Person
273 sg:person.01174073121.40 schema:affiliation https://www.grid.ac/institutes/grid.419538.2
274 schema:familyName Pennimpede
275 schema:givenName Tracie
276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174073121.40
277 rdf:type schema:Person
278 sg:person.01200214302.18 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
279 schema:familyName Ludwig
280 schema:givenName Michael
281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200214302.18
282 rdf:type schema:Person
283 sg:person.01222331176.78 schema:affiliation https://www.grid.ac/institutes/grid.418434.e
284 schema:familyName Märzheuser
285 schema:givenName Stefanie
286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222331176.78
287 rdf:type schema:Person
288 sg:person.0611621237.28 schema:affiliation https://www.grid.ac/institutes/grid.411760.5
289 schema:familyName Grasshoff-Derr
290 schema:givenName Sabine
291 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611621237.28
292 rdf:type schema:Person
293 sg:person.0633310702.00 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
294 schema:familyName Reutter
295 schema:givenName Heiko
296 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633310702.00
297 rdf:type schema:Person
298 sg:person.0635672753.53 schema:affiliation https://www.grid.ac/institutes/grid.412753.6
299 schema:familyName Herrmann
300 schema:givenName Bernhard G
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635672753.53
302 rdf:type schema:Person
303 sg:person.0725505544.37 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
304 schema:familyName Müller
305 schema:givenName Annette M
306 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725505544.37
307 rdf:type schema:Person
308 sg:person.0726172737.72 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
309 schema:familyName Engels
310 schema:givenName Hartmut
311 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726172737.72
312 rdf:type schema:Person
313 sg:person.0732234757.00 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
314 schema:familyName Draaken
315 schema:givenName Markus
316 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732234757.00
317 rdf:type schema:Person
318 sg:person.0737212772.91 schema:affiliation https://www.grid.ac/institutes/grid.10388.32
319 schema:familyName Dworschak
320 schema:givenName Gabriel C
321 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737212772.91
322 rdf:type schema:Person
323 sg:person.0750453650.16 schema:affiliation Ncb0598e5304945d1bab4b3fbce03f8e5
324 schema:familyName Schmiedeke
325 schema:givenName Eberhard
326 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750453650.16
327 rdf:type schema:Person
328 sg:person.0751166645.35 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
329 schema:familyName Marcelis
330 schema:givenName Carlo LM
331 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751166645.35
332 rdf:type schema:Person
333 sg:person.0755436405.55 schema:affiliation https://www.grid.ac/institutes/grid.413575.1
334 schema:familyName Hildebrandt
335 schema:givenName Friedhelm
336 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755436405.55
337 rdf:type schema:Person
338 sg:person.0763124053.10 schema:affiliation https://www.grid.ac/institutes/grid.6936.a
339 schema:familyName Hosie
340 schema:givenName Stuart
341 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763124053.10
342 rdf:type schema:Person
343 sg:pub.10.1007/bf00441773 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041064724
344 https://doi.org/10.1007/bf00441773
345 rdf:type schema:CreativeWork
346 sg:pub.10.1007/s00439-010-0944-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1022880386
347 https://doi.org/10.1007/s00439-010-0944-y
348 rdf:type schema:CreativeWork
349 sg:pub.10.1007/s11033-010-0511-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041359617
350 https://doi.org/10.1007/s11033-010-0511-6
351 rdf:type schema:CreativeWork
352 sg:pub.10.1038/ejhg.2009.90 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043378769
353 https://doi.org/10.1038/ejhg.2009.90
354 rdf:type schema:CreativeWork
355 sg:pub.10.1038/ejhg.2010.84 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039595773
356 https://doi.org/10.1038/ejhg.2010.84
357 rdf:type schema:CreativeWork
358 sg:pub.10.1186/1755-8166-3-13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039726647
359 https://doi.org/10.1186/1755-8166-3-13
360 rdf:type schema:CreativeWork
361 https://app.dimensions.ai/details/publication/pub.1081985179 schema:CreativeWork
362 https://app.dimensions.ai/details/publication/pub.1083026881 schema:CreativeWork
363 https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<8::aid-ajmg2>3.0.co;2-v schema:sameAs https://app.dimensions.ai/details/publication/pub.1013523126
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029386848
366 rdf:type schema:CreativeWork
367 https://doi.org/10.1002/ajmg.a.33820 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040856806
368 rdf:type schema:CreativeWork
369 https://doi.org/10.1002/bdra.20821 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020653878
370 rdf:type schema:CreativeWork
371 https://doi.org/10.1016/0028-2243(79)90068-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035521180
372 rdf:type schema:CreativeWork
373 https://doi.org/10.1016/j.bbrc.2010.03.169 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000850801
374 rdf:type schema:CreativeWork
375 https://doi.org/10.1016/j.cell.2012.02.054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001063940
376 rdf:type schema:CreativeWork
377 https://doi.org/10.1016/j.ejmg.2010.06.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041885414
378 rdf:type schema:CreativeWork
379 https://doi.org/10.1016/j.ejmg.2010.09.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047687729
380 rdf:type schema:CreativeWork
381 https://doi.org/10.1016/j.jpedsurg.2007.07.030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006937530
382 rdf:type schema:CreativeWork
383 https://doi.org/10.1016/j.ydbio.2012.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016104892
384 rdf:type schema:CreativeWork
385 https://doi.org/10.1016/s0022-3476(73)80024-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013566304
386 rdf:type schema:CreativeWork
387 https://doi.org/10.1016/s0022-3476(77)80903-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038550447
388 rdf:type schema:CreativeWork
389 https://doi.org/10.1074/jbc.m109.018150 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034716395
390 rdf:type schema:CreativeWork
391 https://doi.org/10.1074/jbc.m303055200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002467806
392 rdf:type schema:CreativeWork
393 https://doi.org/10.1074/jbc.m603503200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017967960
394 rdf:type schema:CreativeWork
395 https://doi.org/10.1093/nar/gkm076 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009468905
396 rdf:type schema:CreativeWork
397 https://doi.org/10.1101/gad.11.23.3143 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053567898
398 rdf:type schema:CreativeWork
399 https://doi.org/10.1111/j.0906-6705.2005.00324.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1034723349
400 rdf:type schema:CreativeWork
401 https://doi.org/10.1111/j.1741-4520.2009.00228.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1049946516
402 rdf:type schema:CreativeWork
403 https://doi.org/10.1111/j.1745-7270.2006.00125.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1045264091
404 rdf:type schema:CreativeWork
405 https://doi.org/10.1111/j.1747-0803.2011.00582.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043131296
406 rdf:type schema:CreativeWork
407 https://doi.org/10.1128/mcb.26.2.548-558.2006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006220072
408 rdf:type schema:CreativeWork
409 https://doi.org/10.1136/jmg.38.2.e6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024653072
410 rdf:type schema:CreativeWork
411 https://doi.org/10.1194/jlr.m900128 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064192954
412 rdf:type schema:CreativeWork
413 https://doi.org/10.1371/journal.pbio.1000582 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010327687
414 rdf:type schema:CreativeWork
415 https://doi.org/10.1542/peds.2011-2337 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016460410
416 rdf:type schema:CreativeWork
417 https://www.grid.ac/institutes/grid.10388.32 schema:alternateName University of Bonn
418 schema:name Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
419 Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany
420 Department of Neonatology, Children’s Hospital, University of Bonn, Bonn, Germany
421 Department of Paidopathology, Institute of Pathology, Medical Center, University of Bonn, Bonn, Germany
422 Institute of Human Genetics, University of Bonn, Bonn, Germany
423 rdf:type schema:Organization
424 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
425 schema:name Department of Epidemiology, Biostatistics and HTA (133), Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
426 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
427 rdf:type schema:Organization
428 https://www.grid.ac/institutes/grid.214458.e schema:alternateName University of Michigan–Ann Arbor
429 schema:name Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany
430 Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
431 Institute of Human Genetics, University of Bonn, Bonn, Germany
432 rdf:type schema:Organization
433 https://www.grid.ac/institutes/grid.411760.5 schema:alternateName University Hospital of Würzburg
434 schema:name Department of Pediatric Surgery, University Hospital Würzburg, Würzburg, Germany
435 rdf:type schema:Organization
436 https://www.grid.ac/institutes/grid.412753.6 schema:alternateName Campus Benjamin Franklin
437 schema:name Charité University Medicine Berlin, Institute for Medical Genetics, Campus Benjamin Franklin, Berlin, Germany
438 Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany
439 rdf:type schema:Organization
440 https://www.grid.ac/institutes/grid.413575.1 schema:alternateName Howard Hughes Medical Institute
441 schema:name Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA
442 Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
443 Howard Hughes Medical Institute, Chevy Chase, MD, USA
444 rdf:type schema:Organization
445 https://www.grid.ac/institutes/grid.418434.e schema:alternateName Virchow Klinikum
446 schema:name Department of Pediatric Surgery, Campus Virchow Clinic, Charite University Hospital Berlin, Berlin, Germany
447 rdf:type schema:Organization
448 https://www.grid.ac/institutes/grid.419538.2 schema:alternateName Max Planck Institute for Molecular Genetics
449 schema:name Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany
450 rdf:type schema:Organization
451 https://www.grid.ac/institutes/grid.6936.a schema:alternateName Technical University Munich
452 schema:name Department of Pediatric Surgery, Klinikum Schwabing, Technische Universität München, München, Germany
453 rdf:type schema:Organization
454 https://www.grid.ac/institutes/grid.7700.0 schema:alternateName Heidelberg University
455 schema:name Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany
456 rdf:type schema:Organization
 




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


...