Refining analyses of copy number variation identifies specific genes associated with developmental delay View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-09-14

AUTHORS

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Elizabeth Thompson, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

ABSTRACT

Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity. More... »

PAGES

1063-1071

References to SciGraph publications

  • 2011-08-14. A Copy Number Variation Morbidity Map of Developmental Delay in NATURE GENETICS
  • 2013-05-12. De novo mutations in histone modifying genes in congenital heart disease in NATURE
  • 2010-10-03. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes in NATURE GENETICS
  • 2013-12-04. Further delineation of the SATB2 phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-01-22. De novo mutations in schizophrenia implicate synaptic networks in NATURE
  • 2000-03-16. The adenovirus E1A binding protein BS69 is a corepressor of transcription through recruitment of N-CoR in ONCOGENE
  • 2012-04-04. Patterns and rates of exonic de novo mutations in autism spectrum disorders in NATURE
  • 2012-04-04. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations in NATURE
  • 2012-12-20. Estimates of penetrance for recurrent pathogenic copy-number variations in GENETICS IN MEDICINE
  • 2013-02-07. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways in NEUROGENETICS
  • 2014-03-02. ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression in NATURE
  • 2011-09. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities in GENETICS IN MEDICINE
  • 2012-10-09. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts in MOLECULAR PSYCHIATRY
  • 2010-06-30. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-04-29. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome in NATURE GENETICS
  • 2013-12-18. CNVs conferring risk of autism or schizophrenia affect cognition in controls in NATURE
  • 2012-12-09. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia in NATURE GENETICS
  • 2012-04-04. De novo mutations revealed by whole-exome sequencing are strongly associated with autism in NATURE
  • 2012-03-18. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome in NATURE GENETICS
  • 2010-05-02. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome in NATURE GENETICS
  • 2013-11-26. A rare 3q13.31 microdeletion including GAP43 and LSAMP genes in MOLECULAR CYTOGENETICS
  • 2013-08-11. De novo mutations in the classic epileptic encephalopathies in NATURE
  • 2011-01-19. The phenotype of recurrent 10q22q23 deletions and duplications in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-07-07. Somatic SETBP1 mutations in myeloid malignancies in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3092

    DOI

    http://dx.doi.org/10.1038/ng.3092

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003197881

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25217958


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Autistic Disorder", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Base Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Carrier Proteins", 
            "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": "Chromosome Mapping", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Co-Repressor Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Comparative Genomic Hybridization", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Copy Number Variations", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA-Binding Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Developmental Disabilities", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Association Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Haploinsufficiency", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Intellectual Disability", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Molecular Sequence Data", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nuclear Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "familyName": "Coe", 
            "givenName": "Bradley P", 
            "id": "sg:person.01354620530.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Witherspoon", 
            "givenName": "Kali", 
            "id": "sg:person.01170764334.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170764334.60"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Rosenfeld", 
            "givenName": "Jill A", 
            "id": "sg:person.01267373621.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267373621.12"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "van Bon", 
            "givenName": "Bregje W M", 
            "id": "sg:person.01051500361.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051500361.15"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Vulto-van Silfhout", 
            "givenName": "Anneke T", 
            "id": "sg:person.01354272726.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354272726.44"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Bosco", 
            "givenName": "Paolo", 
            "type": "Person"
          }, 
          {
            "familyName": "Friend", 
            "givenName": "Kathryn L", 
            "id": "sg:person.01044734511.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044734511.16"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Baker", 
            "givenName": "Carl", 
            "id": "sg:person.01266240154.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266240154.24"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Buono", 
            "givenName": "Serafino", 
            "id": "sg:person.0605524557.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605524557.36"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Vissers", 
            "givenName": "Lisenka E L M", 
            "id": "sg:person.0661002772.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661002772.35"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Schuurs-Hoeijmakers", 
            "givenName": "Janneke H", 
            "id": "sg:person.0612416640.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612416640.64"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Hoischen", 
            "givenName": "Alex", 
            "id": "sg:person.0616366620.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616366620.13"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Pfundt", 
            "givenName": "Rolph", 
            "id": "sg:person.01165726761.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165726761.66"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Krumm", 
            "givenName": "Nik", 
            "id": "sg:person.0672163360.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672163360.07"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Carvill", 
            "givenName": "Gemma L", 
            "id": "sg:person.01205306344.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205306344.39"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Li", 
            "givenName": "Deana", 
            "type": "Person"
          }, 
          {
            "familyName": "Amaral", 
            "givenName": "David", 
            "type": "Person"
          }, 
          {
            "familyName": "Brown", 
            "givenName": "Natasha", 
            "id": "sg:person.01106777071.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106777071.55"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Lockhart", 
            "givenName": "Paul J", 
            "id": "sg:person.016214262744.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016214262744.46"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Scheffer", 
            "givenName": "Ingrid E", 
            "id": "sg:person.01313560653.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313560653.12"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Alberti", 
            "givenName": "Antonino", 
            "id": "sg:person.011725224332.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011725224332.47"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Shaw", 
            "givenName": "Marie", 
            "type": "Person"
          }, 
          {
            "familyName": "Pettinato", 
            "givenName": "Rosa", 
            "id": "sg:person.0730250300.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730250300.37"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Tervo", 
            "givenName": "Raymond", 
            "type": "Person"
          }, 
          {
            "familyName": "de Leeuw", 
            "givenName": "Nicole", 
            "type": "Person"
          }, 
          {
            "familyName": "Reijnders", 
            "givenName": "Margot R F", 
            "id": "sg:person.01012253060.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012253060.74"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Torchia", 
            "givenName": "Beth S", 
            "id": "sg:person.01042557721.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042557721.43"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Peeters", 
            "givenName": "Hilde", 
            "id": "sg:person.01012562641.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012562641.41"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Thompson", 
            "givenName": "Elizabeth", 
            "id": "sg:person.01271137270.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271137270.14"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "O'Roak", 
            "givenName": "Brian J", 
            "id": "sg:person.01272176441.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272176441.38"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Fichera", 
            "givenName": "Marco", 
            "id": "sg:person.0575513774.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Hehir-Kwa", 
            "givenName": "Jayne Y", 
            "id": "sg:person.01106475777.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106475777.82"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Shendure", 
            "givenName": "Jay", 
            "id": "sg:person.01221110417.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221110417.53"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Mefford", 
            "givenName": "Heather C", 
            "id": "sg:person.0655617372.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Haan", 
            "givenName": "Eric", 
            "id": "sg:person.01346744641.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346744641.93"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "G\u00e9cz", 
            "givenName": "Jozef", 
            "id": "sg:person.012335367217.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "de Vries", 
            "givenName": "Bert B A", 
            "id": "sg:person.01243511530.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Romano", 
            "givenName": "Corrado", 
            "id": "sg:person.014011776500.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Eichler", 
            "givenName": "Evan E", 
            "id": "sg:person.0705101106.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng.2696", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010438464", 
              "https://doi.org/10.1038/ng.2696"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.onc.1203421", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043161830", 
              "https://doi.org/10.1038/sj.onc.1203421"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11011", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021093950", 
              "https://doi.org/10.1038/nature11011"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2013.280", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003188667", 
              "https://doi.org/10.1038/ejhg.2013.280"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10989", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027113143", 
              "https://doi.org/10.1038/nature10989"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2010.102", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028054523", 
              "https://doi.org/10.1038/ejhg.2010.102"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2012.164", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045189328", 
              "https://doi.org/10.1038/gim.2012.164"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10048-013-0356-y", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030597888", 
              "https://doi.org/10.1007/s10048-013-0356-y"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2010.211", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038043822", 
              "https://doi.org/10.1038/ejhg.2010.211"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.909", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020398051", 
              "https://doi.org/10.1038/ng.909"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1755-8166-6-52", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033888810", 
              "https://doi.org/10.1186/1755-8166-6-52"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12929", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049383355", 
              "https://doi.org/10.1038/nature12929"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.677", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048464255", 
              "https://doi.org/10.1038/ng.677"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mp.2012.138", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044963448", 
              "https://doi.org/10.1038/mp.2012.138"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.581", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021369761", 
              "https://doi.org/10.1038/ng.581"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature10945", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050249412", 
              "https://doi.org/10.1038/nature10945"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12141", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023101334", 
              "https://doi.org/10.1038/nature12141"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13045", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020654092", 
              "https://doi.org/10.1038/nature13045"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2495", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017039547", 
              "https://doi.org/10.1038/ng.2495"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12818", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043154470", 
              "https://doi.org/10.1038/nature12818"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2262", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039690822", 
              "https://doi.org/10.1038/ng.2262"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2217", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018858352", 
              "https://doi.org/10.1038/ng.2217"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e31822c79f9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049056484", 
              "https://doi.org/10.1097/gim.0b013e31822c79f9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature12439", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003744287", 
              "https://doi.org/10.1038/nature12439"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2014-09-14", 
        "datePublishedReg": "2014-09-14", 
        "description": "Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng.3092", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2683717", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3858639", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2552909", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "10", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "46"
          }
        ], 
        "keywords": [
          "developmental delay", 
          "new clinical subtype", 
          "neuropsychiatric features", 
          "healthy controls", 
          "clinical subtypes", 
          "neurocognitive disorders", 
          "pediatric diseases", 
          "new syndrome", 
          "additional cases", 
          "neuropsychiatric diseases", 
          "significant CNVs", 
          "affected individuals", 
          "intellectual disability", 
          "causative genes", 
          "single nucleotide variant data", 
          "disease", 
          "extensive genetic heterogeneity", 
          "genetic heterogeneity", 
          "CNVs", 
          "genetic changes", 
          "number variants", 
          "candidate genes", 
          "expressive language", 
          "syndrome", 
          "putative loss", 
          "subtypes", 
          "SETBP1", 
          "genes", 
          "specific genes", 
          "individuals", 
          "autism", 
          "disorders", 
          "disability", 
          "children", 
          "control", 
          "haploinsufficiency", 
          "ZMYND11", 
          "loss", 
          "refining analysis", 
          "integrated analysis", 
          "subset", 
          "delay", 
          "rapid discovery", 
          "variant data", 
          "cases", 
          "variants", 
          "events", 
          "analysis", 
          "aggression", 
          "heterogeneity", 
          "changes", 
          "function", 
          "data", 
          "discovery", 
          "comparison", 
          "features", 
          "truncation", 
          "approach", 
          "maps", 
          "language", 
          "CNV morbidity map", 
          "morbidity map", 
          "disease-associated CNVs", 
          "haploinsufficiency of SETBP1", 
          "truncations of ZMYND11", 
          "complex neuropsychiatric features", 
          "SNV approach", 
          "copy number variation identifies specific genes", 
          "number variation identifies specific genes", 
          "variation identifies specific genes", 
          "identifies specific genes"
        ], 
        "name": "Refining analyses of copy number variation identifies specific genes associated with developmental delay", 
        "pagination": "1063-1071", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1003197881"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng.3092"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "25217958"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng.3092", 
          "https://app.dimensions.ai/details/publication/pub.1003197881"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2021-11-01T18:23", 
        "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_635.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng.3092"
      }
    ]
     

    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.3092'

    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.3092'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3092'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3092'


     

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

    541 TRIPLES      22 PREDICATES      143 URIs      111 LITERALS      29 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng.3092 schema:about N048a60d60aa245d8bace774b69a2eb07
    2 N052d3bcfe4444d189723b82d6275ed78
    3 N07b98fcfb36747cfba5f3964fa50155c
    4 N25ee988d64ed450bb994bc3a6e5b4dc9
    5 N320cf588137e4ee994c6ee66af958ab3
    6 N489ae7f007a846119d5a7a3a4ad04ab3
    7 N511071a7974c4095bbd19b72a84f43e9
    8 N60cbdde35eb8431da2612640fd5eb260
    9 N6377287c340c4a7387267c58f3f620d2
    10 N786123366f024433ac06530969b040de
    11 N89247f94202c469e9866c4397ff05ad5
    12 N8b44bc049ec349ba9a6c8a47c3e1e486
    13 N943409134b2046cbb7db70b9c2778b04
    14 N957f7e7e18f64374934eaa5ddc5ce9eb
    15 N9c8e7b20602f485aa30762327f63fa85
    16 Nc2e39df3b77943ed849896aedd188dfe
    17 Nc60f8f932ba640c7b6de5cdf16ef7dfb
    18 Nd287bdb0a49444abaee9faf8fc5ae1c7
    19 Ne32c89eb7fcc48fe8d2c9016c0f22ac6
    20 Ne738fb9eb03e40ec809547c7764b25df
    21 Nec02948e323b4a8984b9afd01b387ee6
    22 Nfa1c9a01398843c1bffbd0ee68e6547a
    23 anzsrc-for:06
    24 anzsrc-for:0604
    25 schema:author Nf2cd4fef5db64dc4b28948965d4eb3f1
    26 schema:citation sg:pub.10.1007/s10048-013-0356-y
    27 sg:pub.10.1038/ejhg.2010.102
    28 sg:pub.10.1038/ejhg.2010.211
    29 sg:pub.10.1038/ejhg.2013.280
    30 sg:pub.10.1038/gim.2012.164
    31 sg:pub.10.1038/mp.2012.138
    32 sg:pub.10.1038/nature10945
    33 sg:pub.10.1038/nature10989
    34 sg:pub.10.1038/nature11011
    35 sg:pub.10.1038/nature12141
    36 sg:pub.10.1038/nature12439
    37 sg:pub.10.1038/nature12818
    38 sg:pub.10.1038/nature12929
    39 sg:pub.10.1038/nature13045
    40 sg:pub.10.1038/ng.2217
    41 sg:pub.10.1038/ng.2262
    42 sg:pub.10.1038/ng.2495
    43 sg:pub.10.1038/ng.2696
    44 sg:pub.10.1038/ng.581
    45 sg:pub.10.1038/ng.677
    46 sg:pub.10.1038/ng.909
    47 sg:pub.10.1038/sj.onc.1203421
    48 sg:pub.10.1097/gim.0b013e31822c79f9
    49 sg:pub.10.1186/1755-8166-6-52
    50 schema:datePublished 2014-09-14
    51 schema:datePublishedReg 2014-09-14
    52 schema:description Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function. Follow-up of a subset of affected individuals identified new clinical subtypes of pediatric disease and the genes responsible for disease-associated CNVs. These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. This combined CNV and SNV approach facilitates the rapid discovery of new syndromes and genes involved in neuropsychiatric disease despite extensive genetic heterogeneity.
    53 schema:genre article
    54 schema:inLanguage en
    55 schema:isAccessibleForFree true
    56 schema:isPartOf Nda820106b13d47c6b969c1025d691ae8
    57 Nddd1f68500d0488f89c0ea843126e797
    58 sg:journal.1103138
    59 schema:keywords CNV morbidity map
    60 CNVs
    61 SETBP1
    62 SNV approach
    63 ZMYND11
    64 additional cases
    65 affected individuals
    66 aggression
    67 analysis
    68 approach
    69 autism
    70 candidate genes
    71 cases
    72 causative genes
    73 changes
    74 children
    75 clinical subtypes
    76 comparison
    77 complex neuropsychiatric features
    78 control
    79 copy number variation identifies specific genes
    80 data
    81 delay
    82 developmental delay
    83 disability
    84 discovery
    85 disease
    86 disease-associated CNVs
    87 disorders
    88 events
    89 expressive language
    90 extensive genetic heterogeneity
    91 features
    92 function
    93 genes
    94 genetic changes
    95 genetic heterogeneity
    96 haploinsufficiency
    97 haploinsufficiency of SETBP1
    98 healthy controls
    99 heterogeneity
    100 identifies specific genes
    101 individuals
    102 integrated analysis
    103 intellectual disability
    104 language
    105 loss
    106 maps
    107 morbidity map
    108 neurocognitive disorders
    109 neuropsychiatric diseases
    110 neuropsychiatric features
    111 new clinical subtype
    112 new syndrome
    113 number variants
    114 number variation identifies specific genes
    115 pediatric diseases
    116 putative loss
    117 rapid discovery
    118 refining analysis
    119 significant CNVs
    120 single nucleotide variant data
    121 specific genes
    122 subset
    123 subtypes
    124 syndrome
    125 truncation
    126 truncations of ZMYND11
    127 variant data
    128 variants
    129 variation identifies specific genes
    130 schema:name Refining analyses of copy number variation identifies specific genes associated with developmental delay
    131 schema:pagination 1063-1071
    132 schema:productId N5305c781d05a4db0962f4ccff49537db
    133 Na89c2203c95348fbae2c1c20254b8b3d
    134 Nfb32c2a08b0e4a6eba8aca5aff7e9a17
    135 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003197881
    136 https://doi.org/10.1038/ng.3092
    137 schema:sdDatePublished 2021-11-01T18:23
    138 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    139 schema:sdPublisher N07e5e28cd3f44f1d980c1fa5a1cfcfe4
    140 schema:url https://doi.org/10.1038/ng.3092
    141 sgo:license sg:explorer/license/
    142 sgo:sdDataset articles
    143 rdf:type schema:ScholarlyArticle
    144 N03619f27b4694798a6effb3f802923f2 rdf:first N7bec1834393e4153bff59ac9bc93a8e5
    145 rdf:rest N1bfdac3c1ff84cdaafaea5c86431e389
    146 N048a60d60aa245d8bace774b69a2eb07 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Chromosome Mapping
    148 rdf:type schema:DefinedTerm
    149 N052d3bcfe4444d189723b82d6275ed78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Genetic Predisposition to Disease
    151 rdf:type schema:DefinedTerm
    152 N07b98fcfb36747cfba5f3964fa50155c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Intellectual Disability
    154 rdf:type schema:DefinedTerm
    155 N07e5e28cd3f44f1d980c1fa5a1cfcfe4 schema:name Springer Nature - SN SciGraph project
    156 rdf:type schema:Organization
    157 N0979eff1018a4999bb94af975ffc9243 schema:familyName Li
    158 schema:givenName Deana
    159 rdf:type schema:Person
    160 N14620f343d5a4c788b5ae7d087e17877 rdf:first sg:person.01272176441.38
    161 rdf:rest N48cadf7c79ae407b95201a622c4644ec
    162 N1bfdac3c1ff84cdaafaea5c86431e389 rdf:first sg:person.01012253060.74
    163 rdf:rest Nd0dec2efb13d4590a39d275b89c0a5f6
    164 N1fcd91caa4d24813b307427f338b9f9c rdf:first sg:person.01205306344.39
    165 rdf:rest Nc963ab1ad59644f5930f42cc5310b32b
    166 N237288015db549c29b80614257881e8f rdf:first sg:person.0672163360.07
    167 rdf:rest N1fcd91caa4d24813b307427f338b9f9c
    168 N243588f37c2a4cd8a8624f91cc8a1256 rdf:first sg:person.0661002772.35
    169 rdf:rest N72ed7863e9544758b0a3c4535c878df6
    170 N25ee988d64ed450bb994bc3a6e5b4dc9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name Female
    172 rdf:type schema:DefinedTerm
    173 N2fce355dbf7e4ff4af4f30deee0d39d9 rdf:first sg:person.0705101106.89
    174 rdf:rest rdf:nil
    175 N320cf588137e4ee994c6ee66af958ab3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    176 schema:name DNA Copy Number Variations
    177 rdf:type schema:DefinedTerm
    178 N3da6068bb51c49c189be58d3bf5843aa rdf:first Ndb0b5a8d96344b3aa83a632b253e505d
    179 rdf:rest Nb318a7c1210e4ae28a6b15bba0b11bc4
    180 N4179ad0faffc46d1b87b5afca8e79c28 rdf:first sg:person.01106475777.82
    181 rdf:rest Ndf991d101fb643c79f795a541f0d08a6
    182 N489ae7f007a846119d5a7a3a4ad04ab3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name Nuclear Proteins
    184 rdf:type schema:DefinedTerm
    185 N48cadf7c79ae407b95201a622c4644ec rdf:first sg:person.0575513774.52
    186 rdf:rest N4179ad0faffc46d1b87b5afca8e79c28
    187 N4fd06b7ec0ba4d96962a5b07fba24d8c rdf:first sg:person.01165726761.66
    188 rdf:rest N237288015db549c29b80614257881e8f
    189 N511071a7974c4095bbd19b72a84f43e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Genetic Association Studies
    191 rdf:type schema:DefinedTerm
    192 N5305c781d05a4db0962f4ccff49537db schema:name doi
    193 schema:value 10.1038/ng.3092
    194 rdf:type schema:PropertyValue
    195 N55c091b1b99f4142882a281553023490 rdf:first sg:person.01012562641.41
    196 rdf:rest Nf38dfac84a964a29ad9f9022749c4a24
    197 N588a696f84ab4c979deffa1f99a8dc43 rdf:first sg:person.01346744641.93
    198 rdf:rest Nad34864441db4398934db29d5eae4a88
    199 N60cbdde35eb8431da2612640fd5eb260 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    200 schema:name Cell Cycle Proteins
    201 rdf:type schema:DefinedTerm
    202 N6377287c340c4a7387267c58f3f620d2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Molecular Sequence Data
    204 rdf:type schema:DefinedTerm
    205 N72ed7863e9544758b0a3c4535c878df6 rdf:first sg:person.0612416640.64
    206 rdf:rest N959f6dbe065b47bd88cf8857916b3eb3
    207 N74cd5dacac904e3c8d4d7b3c4de8b2b4 rdf:first sg:person.0730250300.37
    208 rdf:rest Nfdf4a5c0cd5e4413b0cce6a220ae6014
    209 N7828c42093514057bee48d87b3984482 rdf:first sg:person.016214262744.46
    210 rdf:rest Na7fdc411708a4130b9e5e05b91446ac0
    211 N786123366f024433ac06530969b040de schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    212 schema:name Child
    213 rdf:type schema:DefinedTerm
    214 N7a9c658cbeca4e0b89dc2852d079944a rdf:first sg:person.01243511530.45
    215 rdf:rest Nc2a74db742c44a8687bc1ba5704d2971
    216 N7bec1834393e4153bff59ac9bc93a8e5 schema:familyName de Leeuw
    217 schema:givenName Nicole
    218 rdf:type schema:Person
    219 N7cbd530823ad4795ae6d8fc0a3f9bee5 rdf:first sg:person.01051500361.15
    220 rdf:rest Na963fc5549ae4128a8f960496374fb60
    221 N8544044b2df6424dbdfb85c4234f2f7f rdf:first sg:person.01267373621.12
    222 rdf:rest N7cbd530823ad4795ae6d8fc0a3f9bee5
    223 N89247f94202c469e9866c4397ff05ad5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    224 schema:name Carrier Proteins
    225 rdf:type schema:DefinedTerm
    226 N8b44bc049ec349ba9a6c8a47c3e1e486 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    227 schema:name Base Sequence
    228 rdf:type schema:DefinedTerm
    229 N8e5a7b68b7c445529c6cfdda51b4c153 rdf:first sg:person.01106777071.55
    230 rdf:rest N7828c42093514057bee48d87b3984482
    231 N910cbed32d384f95a4f03a2603ecc9bc rdf:first sg:person.01266240154.24
    232 rdf:rest Nc2be7fe7432c46f6ad58c4f19ff2ebb6
    233 N943409134b2046cbb7db70b9c2778b04 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    234 schema:name Humans
    235 rdf:type schema:DefinedTerm
    236 N957f7e7e18f64374934eaa5ddc5ce9eb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    237 schema:name Comparative Genomic Hybridization
    238 rdf:type schema:DefinedTerm
    239 N959f6dbe065b47bd88cf8857916b3eb3 rdf:first sg:person.0616366620.13
    240 rdf:rest N4fd06b7ec0ba4d96962a5b07fba24d8c
    241 N9c8e7b20602f485aa30762327f63fa85 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    242 schema:name Haploinsufficiency
    243 rdf:type schema:DefinedTerm
    244 Na04d3532237f4fbc83f078bc377685e5 schema:familyName Shaw
    245 schema:givenName Marie
    246 rdf:type schema:Person
    247 Na2c17fee8f34407bab5d310bb2004fd8 schema:familyName Amaral
    248 schema:givenName David
    249 rdf:type schema:Person
    250 Na7fdc411708a4130b9e5e05b91446ac0 rdf:first sg:person.01313560653.12
    251 rdf:rest Ned28d06d474d4b79a99b1086d3c0e8a2
    252 Na89c2203c95348fbae2c1c20254b8b3d schema:name pubmed_id
    253 schema:value 25217958
    254 rdf:type schema:PropertyValue
    255 Na963fc5549ae4128a8f960496374fb60 rdf:first sg:person.01354272726.44
    256 rdf:rest N3da6068bb51c49c189be58d3bf5843aa
    257 Nad34864441db4398934db29d5eae4a88 rdf:first sg:person.012335367217.22
    258 rdf:rest N7a9c658cbeca4e0b89dc2852d079944a
    259 Nb318a7c1210e4ae28a6b15bba0b11bc4 rdf:first sg:person.01044734511.16
    260 rdf:rest N910cbed32d384f95a4f03a2603ecc9bc
    261 Nc2a74db742c44a8687bc1ba5704d2971 rdf:first sg:person.014011776500.13
    262 rdf:rest N2fce355dbf7e4ff4af4f30deee0d39d9
    263 Nc2be7fe7432c46f6ad58c4f19ff2ebb6 rdf:first sg:person.0605524557.36
    264 rdf:rest N243588f37c2a4cd8a8624f91cc8a1256
    265 Nc2e39df3b77943ed849896aedd188dfe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    266 schema:name Co-Repressor Proteins
    267 rdf:type schema:DefinedTerm
    268 Nc60f8f932ba640c7b6de5cdf16ef7dfb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    269 schema:name Autistic Disorder
    270 rdf:type schema:DefinedTerm
    271 Nc6d749cb24594cd0838dcadac4c29eb2 schema:familyName Tervo
    272 schema:givenName Raymond
    273 rdf:type schema:Person
    274 Nc963ab1ad59644f5930f42cc5310b32b rdf:first N0979eff1018a4999bb94af975ffc9243
    275 rdf:rest Nf70bad9623094f00a8a815606477fa9e
    276 Nce178575393f413b8006b408aff3a48c rdf:first sg:person.0655617372.21
    277 rdf:rest N588a696f84ab4c979deffa1f99a8dc43
    278 Nce673728a2194ebf9b67317fe6bca21e rdf:first sg:person.01170764334.60
    279 rdf:rest N8544044b2df6424dbdfb85c4234f2f7f
    280 Nd0dec2efb13d4590a39d275b89c0a5f6 rdf:first sg:person.01042557721.43
    281 rdf:rest N55c091b1b99f4142882a281553023490
    282 Nd287bdb0a49444abaee9faf8fc5ae1c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    283 schema:name DNA-Binding Proteins
    284 rdf:type schema:DefinedTerm
    285 Nda820106b13d47c6b969c1025d691ae8 schema:volumeNumber 46
    286 rdf:type schema:PublicationVolume
    287 Ndb0b5a8d96344b3aa83a632b253e505d schema:familyName Bosco
    288 schema:givenName Paolo
    289 rdf:type schema:Person
    290 Nddd1f68500d0488f89c0ea843126e797 schema:issueNumber 10
    291 rdf:type schema:PublicationIssue
    292 Ndf991d101fb643c79f795a541f0d08a6 rdf:first sg:person.01221110417.53
    293 rdf:rest Nce178575393f413b8006b408aff3a48c
    294 Ne32c89eb7fcc48fe8d2c9016c0f22ac6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    295 schema:name Male
    296 rdf:type schema:DefinedTerm
    297 Ne738fb9eb03e40ec809547c7764b25df schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    298 schema:name Developmental Disabilities
    299 rdf:type schema:DefinedTerm
    300 Nec02948e323b4a8984b9afd01b387ee6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    301 schema:name Sequence Analysis, DNA
    302 rdf:type schema:DefinedTerm
    303 Ned28d06d474d4b79a99b1086d3c0e8a2 rdf:first sg:person.011725224332.47
    304 rdf:rest Nf3b6902ece2346b1aa9e25aff23c7d29
    305 Nf2cd4fef5db64dc4b28948965d4eb3f1 rdf:first sg:person.01354620530.45
    306 rdf:rest Nce673728a2194ebf9b67317fe6bca21e
    307 Nf38dfac84a964a29ad9f9022749c4a24 rdf:first sg:person.01271137270.14
    308 rdf:rest N14620f343d5a4c788b5ae7d087e17877
    309 Nf3b6902ece2346b1aa9e25aff23c7d29 rdf:first Na04d3532237f4fbc83f078bc377685e5
    310 rdf:rest N74cd5dacac904e3c8d4d7b3c4de8b2b4
    311 Nf70bad9623094f00a8a815606477fa9e rdf:first Na2c17fee8f34407bab5d310bb2004fd8
    312 rdf:rest N8e5a7b68b7c445529c6cfdda51b4c153
    313 Nfa1c9a01398843c1bffbd0ee68e6547a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    314 schema:name Polymorphism, Single Nucleotide
    315 rdf:type schema:DefinedTerm
    316 Nfb32c2a08b0e4a6eba8aca5aff7e9a17 schema:name dimensions_id
    317 schema:value pub.1003197881
    318 rdf:type schema:PropertyValue
    319 Nfdf4a5c0cd5e4413b0cce6a220ae6014 rdf:first Nc6d749cb24594cd0838dcadac4c29eb2
    320 rdf:rest N03619f27b4694798a6effb3f802923f2
    321 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    322 schema:name Biological Sciences
    323 rdf:type schema:DefinedTerm
    324 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    325 schema:name Genetics
    326 rdf:type schema:DefinedTerm
    327 sg:grant.2552909 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3092
    328 rdf:type schema:MonetaryGrant
    329 sg:grant.2683717 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3092
    330 rdf:type schema:MonetaryGrant
    331 sg:grant.3858639 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3092
    332 rdf:type schema:MonetaryGrant
    333 sg:journal.1103138 schema:issn 1061-4036
    334 1546-1718
    335 schema:name Nature Genetics
    336 schema:publisher Springer Nature
    337 rdf:type schema:Periodical
    338 sg:person.01012253060.74 schema:familyName Reijnders
    339 schema:givenName Margot R F
    340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012253060.74
    341 rdf:type schema:Person
    342 sg:person.01012562641.41 schema:familyName Peeters
    343 schema:givenName Hilde
    344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012562641.41
    345 rdf:type schema:Person
    346 sg:person.01042557721.43 schema:familyName Torchia
    347 schema:givenName Beth S
    348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042557721.43
    349 rdf:type schema:Person
    350 sg:person.01044734511.16 schema:familyName Friend
    351 schema:givenName Kathryn L
    352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044734511.16
    353 rdf:type schema:Person
    354 sg:person.01051500361.15 schema:familyName van Bon
    355 schema:givenName Bregje W M
    356 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051500361.15
    357 rdf:type schema:Person
    358 sg:person.01106475777.82 schema:familyName Hehir-Kwa
    359 schema:givenName Jayne Y
    360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106475777.82
    361 rdf:type schema:Person
    362 sg:person.01106777071.55 schema:familyName Brown
    363 schema:givenName Natasha
    364 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106777071.55
    365 rdf:type schema:Person
    366 sg:person.01165726761.66 schema:familyName Pfundt
    367 schema:givenName Rolph
    368 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165726761.66
    369 rdf:type schema:Person
    370 sg:person.01170764334.60 schema:familyName Witherspoon
    371 schema:givenName Kali
    372 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170764334.60
    373 rdf:type schema:Person
    374 sg:person.011725224332.47 schema:familyName Alberti
    375 schema:givenName Antonino
    376 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011725224332.47
    377 rdf:type schema:Person
    378 sg:person.01205306344.39 schema:familyName Carvill
    379 schema:givenName Gemma L
    380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205306344.39
    381 rdf:type schema:Person
    382 sg:person.01221110417.53 schema:familyName Shendure
    383 schema:givenName Jay
    384 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221110417.53
    385 rdf:type schema:Person
    386 sg:person.012335367217.22 schema:familyName Gécz
    387 schema:givenName Jozef
    388 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22
    389 rdf:type schema:Person
    390 sg:person.01243511530.45 schema:familyName de Vries
    391 schema:givenName Bert B A
    392 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45
    393 rdf:type schema:Person
    394 sg:person.01266240154.24 schema:familyName Baker
    395 schema:givenName Carl
    396 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266240154.24
    397 rdf:type schema:Person
    398 sg:person.01267373621.12 schema:familyName Rosenfeld
    399 schema:givenName Jill A
    400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267373621.12
    401 rdf:type schema:Person
    402 sg:person.01271137270.14 schema:familyName Thompson
    403 schema:givenName Elizabeth
    404 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271137270.14
    405 rdf:type schema:Person
    406 sg:person.01272176441.38 schema:familyName O'Roak
    407 schema:givenName Brian J
    408 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272176441.38
    409 rdf:type schema:Person
    410 sg:person.01313560653.12 schema:familyName Scheffer
    411 schema:givenName Ingrid E
    412 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313560653.12
    413 rdf:type schema:Person
    414 sg:person.01346744641.93 schema:familyName Haan
    415 schema:givenName Eric
    416 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346744641.93
    417 rdf:type schema:Person
    418 sg:person.01354272726.44 schema:familyName Vulto-van Silfhout
    419 schema:givenName Anneke T
    420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354272726.44
    421 rdf:type schema:Person
    422 sg:person.01354620530.45 schema:familyName Coe
    423 schema:givenName Bradley P
    424 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45
    425 rdf:type schema:Person
    426 sg:person.014011776500.13 schema:familyName Romano
    427 schema:givenName Corrado
    428 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13
    429 rdf:type schema:Person
    430 sg:person.016214262744.46 schema:familyName Lockhart
    431 schema:givenName Paul J
    432 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016214262744.46
    433 rdf:type schema:Person
    434 sg:person.0575513774.52 schema:familyName Fichera
    435 schema:givenName Marco
    436 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52
    437 rdf:type schema:Person
    438 sg:person.0605524557.36 schema:familyName Buono
    439 schema:givenName Serafino
    440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0605524557.36
    441 rdf:type schema:Person
    442 sg:person.0612416640.64 schema:familyName Schuurs-Hoeijmakers
    443 schema:givenName Janneke H
    444 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612416640.64
    445 rdf:type schema:Person
    446 sg:person.0616366620.13 schema:familyName Hoischen
    447 schema:givenName Alex
    448 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616366620.13
    449 rdf:type schema:Person
    450 sg:person.0655617372.21 schema:familyName Mefford
    451 schema:givenName Heather C
    452 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21
    453 rdf:type schema:Person
    454 sg:person.0661002772.35 schema:familyName Vissers
    455 schema:givenName Lisenka E L M
    456 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661002772.35
    457 rdf:type schema:Person
    458 sg:person.0672163360.07 schema:familyName Krumm
    459 schema:givenName Nik
    460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672163360.07
    461 rdf:type schema:Person
    462 sg:person.0705101106.89 schema:familyName Eichler
    463 schema:givenName Evan E
    464 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
    465 rdf:type schema:Person
    466 sg:person.0730250300.37 schema:familyName Pettinato
    467 schema:givenName Rosa
    468 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730250300.37
    469 rdf:type schema:Person
    470 sg:pub.10.1007/s10048-013-0356-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1030597888
    471 https://doi.org/10.1007/s10048-013-0356-y
    472 rdf:type schema:CreativeWork
    473 sg:pub.10.1038/ejhg.2010.102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028054523
    474 https://doi.org/10.1038/ejhg.2010.102
    475 rdf:type schema:CreativeWork
    476 sg:pub.10.1038/ejhg.2010.211 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038043822
    477 https://doi.org/10.1038/ejhg.2010.211
    478 rdf:type schema:CreativeWork
    479 sg:pub.10.1038/ejhg.2013.280 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003188667
    480 https://doi.org/10.1038/ejhg.2013.280
    481 rdf:type schema:CreativeWork
    482 sg:pub.10.1038/gim.2012.164 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045189328
    483 https://doi.org/10.1038/gim.2012.164
    484 rdf:type schema:CreativeWork
    485 sg:pub.10.1038/mp.2012.138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044963448
    486 https://doi.org/10.1038/mp.2012.138
    487 rdf:type schema:CreativeWork
    488 sg:pub.10.1038/nature10945 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050249412
    489 https://doi.org/10.1038/nature10945
    490 rdf:type schema:CreativeWork
    491 sg:pub.10.1038/nature10989 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027113143
    492 https://doi.org/10.1038/nature10989
    493 rdf:type schema:CreativeWork
    494 sg:pub.10.1038/nature11011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021093950
    495 https://doi.org/10.1038/nature11011
    496 rdf:type schema:CreativeWork
    497 sg:pub.10.1038/nature12141 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023101334
    498 https://doi.org/10.1038/nature12141
    499 rdf:type schema:CreativeWork
    500 sg:pub.10.1038/nature12439 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003744287
    501 https://doi.org/10.1038/nature12439
    502 rdf:type schema:CreativeWork
    503 sg:pub.10.1038/nature12818 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043154470
    504 https://doi.org/10.1038/nature12818
    505 rdf:type schema:CreativeWork
    506 sg:pub.10.1038/nature12929 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049383355
    507 https://doi.org/10.1038/nature12929
    508 rdf:type schema:CreativeWork
    509 sg:pub.10.1038/nature13045 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020654092
    510 https://doi.org/10.1038/nature13045
    511 rdf:type schema:CreativeWork
    512 sg:pub.10.1038/ng.2217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018858352
    513 https://doi.org/10.1038/ng.2217
    514 rdf:type schema:CreativeWork
    515 sg:pub.10.1038/ng.2262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039690822
    516 https://doi.org/10.1038/ng.2262
    517 rdf:type schema:CreativeWork
    518 sg:pub.10.1038/ng.2495 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017039547
    519 https://doi.org/10.1038/ng.2495
    520 rdf:type schema:CreativeWork
    521 sg:pub.10.1038/ng.2696 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010438464
    522 https://doi.org/10.1038/ng.2696
    523 rdf:type schema:CreativeWork
    524 sg:pub.10.1038/ng.581 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021369761
    525 https://doi.org/10.1038/ng.581
    526 rdf:type schema:CreativeWork
    527 sg:pub.10.1038/ng.677 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048464255
    528 https://doi.org/10.1038/ng.677
    529 rdf:type schema:CreativeWork
    530 sg:pub.10.1038/ng.909 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020398051
    531 https://doi.org/10.1038/ng.909
    532 rdf:type schema:CreativeWork
    533 sg:pub.10.1038/sj.onc.1203421 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043161830
    534 https://doi.org/10.1038/sj.onc.1203421
    535 rdf:type schema:CreativeWork
    536 sg:pub.10.1097/gim.0b013e31822c79f9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049056484
    537 https://doi.org/10.1097/gim.0b013e31822c79f9
    538 rdf:type schema:CreativeWork
    539 sg:pub.10.1186/1755-8166-6-52 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033888810
    540 https://doi.org/10.1186/1755-8166-6-52
    541 rdf:type schema:CreativeWork
     




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


    ...