Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-02-24

AUTHORS

B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon, T Kleefstra, M H Willemsen, R Kumar, P Bosco, M Fichera, D Li, D Amaral, F Cristofoli, H Peeters, E Haan, C Romano, H C Mefford, I Scheffer, J Gecz, B B A de Vries, E E Eichler

ABSTRACT

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10−10) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models. More... »

PAGES

126-132

Journal

TITLE

Molecular Psychiatry

ISSUE

1

VOLUME

21

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/mp.2015.5

DOI

http://dx.doi.org/10.1038/mp.2015.5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036612215

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25707398


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": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Autistic Disorder", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fetal Growth Retardation", 
        "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": "Microcephaly", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein-Serine-Threonine Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein-Tyrosine Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Seizures, Febrile", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Siblings", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Speech Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Stereotypic Movement Disorder", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia", 
          "id": "http://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands", 
            "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Bon", 
        "givenName": "B W M", 
        "id": "sg:person.07500103754.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07500103754.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Coe", 
        "givenName": "B P", 
        "id": "sg:person.01354620530.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Psychiatry, University of Washington, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Psychiatry, University of Washington, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bernier", 
        "givenName": "R", 
        "id": "sg:person.011521062037.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011521062037.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Green", 
        "givenName": "C", 
        "id": "sg:person.01275770002.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275770002.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Psychiatry, University of Washington, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Psychiatry, University of Washington, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gerdts", 
        "givenName": "J", 
        "id": "sg:person.0726271414.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726271414.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Witherspoon", 
        "givenName": "K", 
        "id": "sg:person.01170764334.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170764334.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kleefstra", 
        "givenName": "T", 
        "id": "sg:person.01160151711.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160151711.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Willemsen", 
        "givenName": "M H", 
        "id": "sg:person.011512310764.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011512310764.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia", 
          "id": "http://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kumar", 
        "givenName": "R", 
        "id": "sg:person.012173672464.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012173672464.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bosco", 
        "givenName": "P", 
        "id": "sg:person.01250667505.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250667505.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical Genetics, University of Catania, Catania, Italy", 
          "id": "http://www.grid.ac/institutes/grid.8158.4", 
          "name": [
            "I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
            "Medical Genetics, University of Catania, Catania, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fichera", 
        "givenName": "M", 
        "id": "sg:person.0575513774.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA", 
          "id": "http://www.grid.ac/institutes/grid.27860.3b", 
          "name": [
            "Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Li", 
        "givenName": "D", 
        "id": "sg:person.01366554275.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366554275.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA", 
          "id": "http://www.grid.ac/institutes/grid.27860.3b", 
          "name": [
            "Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Amaral", 
        "givenName": "D", 
        "id": "sg:person.01314206025.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314206025.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium", 
          "id": "http://www.grid.ac/institutes/grid.410569.f", 
          "name": [
            "Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cristofoli", 
        "givenName": "F", 
        "id": "sg:person.01002244055.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002244055.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leuven Autism Research (LAuRes), Leuven, Belgium", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium", 
            "Leuven Autism Research (LAuRes), Leuven, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Peeters", 
        "givenName": "H", 
        "id": "sg:person.01012562641.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012562641.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia", 
          "id": "http://www.grid.ac/institutes/grid.414733.6", 
          "name": [
            "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia", 
            "South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Haan", 
        "givenName": "E", 
        "id": "sg:person.01346744641.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346744641.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Romano", 
        "givenName": "C", 
        "id": "sg:person.014011776500.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Psychiatry, University of Washington, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Psychiatry, University of Washington, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mefford", 
        "givenName": "H C", 
        "id": "sg:person.0655617372.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scheffer", 
        "givenName": "I", 
        "id": "sg:person.01313560653.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313560653.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia", 
          "id": "http://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia", 
            "South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia", 
            "Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gecz", 
        "givenName": "J", 
        "id": "sg:person.012175060164.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012175060164.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands", 
            "Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Vries", 
        "givenName": "B B A", 
        "id": "sg:person.011464725062.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011464725062.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA", 
          "id": "http://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA", 
            "Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Eichler", 
        "givenName": "E 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/nature13908", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046951438", 
          "https://doi.org/10.1038/nature13908"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2899", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009348024", 
          "https://doi.org/10.1038/ng.2899"
        ], 
        "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/ng.835", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018708872", 
          "https://doi.org/10.1038/ng.835"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2646", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008791569", 
          "https://doi.org/10.1038/ng.2646"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm3454", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002187607", 
          "https://doi.org/10.1038/nrm3454"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature13772", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041044240", 
          "https://doi.org/10.1038/nature13772"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-02-24", 
    "datePublishedReg": "2015-02-24", 
    "description": "Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 \u00d7 10\u221210) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/mp.2015.5", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2562713", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2552909", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.3624898", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.3804163", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1115540", 
        "issn": [
          "1359-4184", 
          "1476-5578"
        ], 
        "name": "Molecular Psychiatry", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "keywords": [
      "de novo mutations", 
      "developmental delay", 
      "intrauterine growth retardation", 
      "previous case reports", 
      "autism spectrum disorder", 
      "syndromic forms", 
      "specific facial gestalt", 
      "novo mutations", 
      "intellectual disability patients", 
      "febrile seizures", 
      "syndromal disorder", 
      "case report", 
      "DD patients", 
      "disability patients", 
      "detailed phenotypic assessment", 
      "patients", 
      "trisomy 21", 
      "growth retardation", 
      "neurocognitive deficits", 
      "phenotypic spectrum", 
      "facial gestalt", 
      "neurodevelopmental defects", 
      "impaired speech", 
      "DYRK1A mutations", 
      "truncating mutations", 
      "dual-specificity tyrosine", 
      "different pathologies", 
      "unaffected siblings", 
      "knockout models", 
      "function mutations", 
      "disruptive de novo mutations", 
      "Down syndrome critical region", 
      "stereotypic behavior", 
      "disorders", 
      "spectrum disorder", 
      "phenotypic assessment", 
      "mutations", 
      "DYRK1A", 
      "syndrome critical region", 
      "hypertonia", 
      "major role", 
      "seizures", 
      "large CNVs", 
      "pathology", 
      "microcephaly", 
      "phenotypic comparison", 
      "murine", 
      "deficits", 
      "cases", 
      "infancy", 
      "genes", 
      "siblings", 
      "report", 
      "retardation", 
      "significant enrichment", 
      "autism", 
      "CNVs", 
      "assessment", 
      "control", 
      "role", 
      "increase", 
      "defects", 
      "events", 
      "tyrosine", 
      "loss", 
      "comparison", 
      "ID", 
      "data", 
      "form", 
      "delay", 
      "excess", 
      "translocation events", 
      "critical region", 
      "gestalt", 
      "speech", 
      "region", 
      "model", 
      "truncation", 
      "enrichment", 
      "behavior", 
      "number increases", 
      "spectra", 
      "maps", 
      "phosphorylation-regulated kinase 1 A (DYRK1A) maps", 
      "kinase 1 A (DYRK1A) maps", 
      "A (DYRK1A) maps", 
      "Truncation of DYRK1A", 
      "ASD/DD patients", 
      "DYRK1A truncating mutations", 
      "ASD/intellectual disability (ID) patients", 
      "Drosophila knockout models"
    ], 
    "name": "Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID", 
    "pagination": "126-132", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1036612215"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/mp.2015.5"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25707398"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/mp.2015.5", 
      "https://app.dimensions.ai/details/publication/pub.1036612215"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-12-01T19:33", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_668.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/mp.2015.5"
  }
]
 

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/mp.2015.5'

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/mp.2015.5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/mp.2015.5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/mp.2015.5'


 

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

466 TRIPLES      22 PREDICATES      147 URIs      132 LITERALS      30 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/mp.2015.5 schema:about N03ea57230e75416789f0f0e6739c4dbb
2 N05d57e6bcb5d44fb94680d6aee0b075b
3 N072913af85284c0fb0330c4084308f7a
4 N16032b763ccc4317a8c4f9d0397ec75f
5 N1e665eb0ce5c42699a7ab9d70e3a0cce
6 N22f4b6addc634397b07702660b753881
7 N2e78cf22282246f0b92c34591c208f18
8 N3a0a3f7f9e784e268c11eb40f12cc23a
9 N3d03b36048194142b933ea555a38dca1
10 N4f96de6637b34ac285fdff02a4b00982
11 N5fb16c3a02fb4f969ed8b103a2a854cc
12 N61cc5bda317047be88a5f803d333c7e7
13 N7b13cac76d154017a318a0f0af48f682
14 N818c2a3c73884a5b8a82a0cecbf0fcba
15 N834c080406ac4227baf0fb4db1e3576f
16 N903f6e5729ea45d99e71d8ced7b27327
17 N95f0e2d00a8f4233bf51e69dc1b7eb6e
18 Nb9a3c469af3640a59b99dbfb4fd5cf99
19 Nc06574fd8f8c480cbfefbe3c015d5c31
20 Nd3f1e4d85e214f0898d42cc5b31daf97
21 Ne4309016c7f149a09480fa9c91d9d94f
22 Ne4c6f12693684d64b8fe487cc8b38d15
23 Neecb9e71f8e64f9f8e4b365af2add7b7
24 anzsrc-for:06
25 anzsrc-for:0604
26 schema:author N791929816b9740db8da1e06d7bb21a64
27 schema:citation sg:pub.10.1038/nature10945
28 sg:pub.10.1038/nature13772
29 sg:pub.10.1038/nature13908
30 sg:pub.10.1038/ng.2646
31 sg:pub.10.1038/ng.2899
32 sg:pub.10.1038/ng.835
33 sg:pub.10.1038/nrm3454
34 schema:datePublished 2015-02-24
35 schema:datePublishedReg 2015-02-24
36 schema:description Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10−10) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.
37 schema:genre article
38 schema:inLanguage en
39 schema:isAccessibleForFree true
40 schema:isPartOf N9f640523942640f9973411bdf776c8f6
41 Nef141c3e52c14f449ca4abcd6b0a5b3e
42 sg:journal.1115540
43 schema:keywords A (DYRK1A) maps
44 ASD/DD patients
45 ASD/intellectual disability (ID) patients
46 CNVs
47 DD patients
48 DYRK1A
49 DYRK1A mutations
50 DYRK1A truncating mutations
51 Down syndrome critical region
52 Drosophila knockout models
53 ID
54 Truncation of DYRK1A
55 assessment
56 autism
57 autism spectrum disorder
58 behavior
59 case report
60 cases
61 comparison
62 control
63 critical region
64 data
65 de novo mutations
66 defects
67 deficits
68 delay
69 detailed phenotypic assessment
70 developmental delay
71 different pathologies
72 disability patients
73 disorders
74 disruptive de novo mutations
75 dual-specificity tyrosine
76 enrichment
77 events
78 excess
79 facial gestalt
80 febrile seizures
81 form
82 function mutations
83 genes
84 gestalt
85 growth retardation
86 hypertonia
87 impaired speech
88 increase
89 infancy
90 intellectual disability patients
91 intrauterine growth retardation
92 kinase 1 A (DYRK1A) maps
93 knockout models
94 large CNVs
95 loss
96 major role
97 maps
98 microcephaly
99 model
100 murine
101 mutations
102 neurocognitive deficits
103 neurodevelopmental defects
104 novo mutations
105 number increases
106 pathology
107 patients
108 phenotypic assessment
109 phenotypic comparison
110 phenotypic spectrum
111 phosphorylation-regulated kinase 1 A (DYRK1A) maps
112 previous case reports
113 region
114 report
115 retardation
116 role
117 seizures
118 siblings
119 significant enrichment
120 specific facial gestalt
121 spectra
122 spectrum disorder
123 speech
124 stereotypic behavior
125 syndromal disorder
126 syndrome critical region
127 syndromic forms
128 translocation events
129 trisomy 21
130 truncating mutations
131 truncation
132 tyrosine
133 unaffected siblings
134 schema:name Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
135 schema:pagination 126-132
136 schema:productId N82ac36060cb94bb48318339c5c1b6ce0
137 N97164dc3e6674a9493aefc3155eb9e67
138 Ncaac158663594b59abe950dea8c8f723
139 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036612215
140 https://doi.org/10.1038/mp.2015.5
141 schema:sdDatePublished 2021-12-01T19:33
142 schema:sdLicense https://scigraph.springernature.com/explorer/license/
143 schema:sdPublisher N523e34b1c58c441b89d61bdecea68b9e
144 schema:url https://doi.org/10.1038/mp.2015.5
145 sgo:license sg:explorer/license/
146 sgo:sdDataset articles
147 rdf:type schema:ScholarlyArticle
148 N01bb5d23706e4613aef5c7fea43de47b rdf:first sg:person.01160151711.59
149 rdf:rest Nd8e15a1faf2f4b17ba9ad12f65231acc
150 N0377a3fae26e4f90b9317f53726994f7 rdf:first sg:person.012175060164.22
151 rdf:rest N34169ecae6a84b0c8421f37397dca0ba
152 N03ea57230e75416789f0f0e6739c4dbb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Cohort Studies
154 rdf:type schema:DefinedTerm
155 N05d57e6bcb5d44fb94680d6aee0b075b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Phenotype
157 rdf:type schema:DefinedTerm
158 N072913af85284c0fb0330c4084308f7a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Middle Aged
160 rdf:type schema:DefinedTerm
161 N16032b763ccc4317a8c4f9d0397ec75f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Fetal Growth Retardation
163 rdf:type schema:DefinedTerm
164 N188ac62bafe8459e8e213f67aadb2a3c rdf:first sg:person.01313560653.12
165 rdf:rest N0377a3fae26e4f90b9317f53726994f7
166 N1e665eb0ce5c42699a7ab9d70e3a0cce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Child, Preschool
168 rdf:type schema:DefinedTerm
169 N22f4b6addc634397b07702660b753881 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Child
171 rdf:type schema:DefinedTerm
172 N2664fad1dd2340dfb99d8fb3547b2119 rdf:first sg:person.0726271414.84
173 rdf:rest Nb88e24716e9d48a293aac9c91ee5dfc5
174 N2e78cf22282246f0b92c34591c208f18 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Mutation
176 rdf:type schema:DefinedTerm
177 N34169ecae6a84b0c8421f37397dca0ba rdf:first sg:person.011464725062.51
178 rdf:rest Nc1e8d715c14f48df9b9b4d99238a21ec
179 N3a0a3f7f9e784e268c11eb40f12cc23a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Autistic Disorder
181 rdf:type schema:DefinedTerm
182 N3d03b36048194142b933ea555a38dca1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Seizures, Febrile
184 rdf:type schema:DefinedTerm
185 N4f96de6637b34ac285fdff02a4b00982 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Stereotypic Movement Disorder
187 rdf:type schema:DefinedTerm
188 N523e34b1c58c441b89d61bdecea68b9e schema:name Springer Nature - SN SciGraph project
189 rdf:type schema:Organization
190 N5d0ab72c79674340bd0c68c1ed026c33 rdf:first sg:person.01346744641.93
191 rdf:rest Nbf63a1eb6e484467942ef83aeac8e147
192 N5fb16c3a02fb4f969ed8b103a2a854cc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
193 schema:name Humans
194 rdf:type schema:DefinedTerm
195 N6045aec0114e4cf586b6f26801dc26b5 rdf:first sg:person.012173672464.28
196 rdf:rest N8d6153d6ff924287ba9879d664b0bb84
197 N61cc5bda317047be88a5f803d333c7e7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
198 schema:name Adult
199 rdf:type schema:DefinedTerm
200 N791929816b9740db8da1e06d7bb21a64 rdf:first sg:person.07500103754.15
201 rdf:rest Ne61331deb3814f209d514119114c1728
202 N7b13cac76d154017a318a0f0af48f682 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
203 schema:name Female
204 rdf:type schema:DefinedTerm
205 N818c2a3c73884a5b8a82a0cecbf0fcba schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
206 schema:name Adolescent
207 rdf:type schema:DefinedTerm
208 N82ac36060cb94bb48318339c5c1b6ce0 schema:name pubmed_id
209 schema:value 25707398
210 rdf:type schema:PropertyValue
211 N834c080406ac4227baf0fb4db1e3576f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
212 schema:name Intellectual Disability
213 rdf:type schema:DefinedTerm
214 N8d6153d6ff924287ba9879d664b0bb84 rdf:first sg:person.01250667505.07
215 rdf:rest Nb916304f95dc45cbb5262ee54bab8b39
216 N903f6e5729ea45d99e71d8ced7b27327 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
217 schema:name Protein-Tyrosine Kinases
218 rdf:type schema:DefinedTerm
219 N95f0e2d00a8f4233bf51e69dc1b7eb6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
220 schema:name Siblings
221 rdf:type schema:DefinedTerm
222 N969b79014f2746ccbfc59a41d3cbe1e0 rdf:first sg:person.01366554275.12
223 rdf:rest Nae6949387fc54fa1b9711c4dd5eaefb0
224 N97164dc3e6674a9493aefc3155eb9e67 schema:name doi
225 schema:value 10.1038/mp.2015.5
226 rdf:type schema:PropertyValue
227 N9f640523942640f9973411bdf776c8f6 schema:issueNumber 1
228 rdf:type schema:PublicationIssue
229 Nae6949387fc54fa1b9711c4dd5eaefb0 rdf:first sg:person.01314206025.72
230 rdf:rest Ndb9031786d504850bdafc183586106dd
231 Nb437990fa0c14b2daf1a166f8b2497a0 rdf:first sg:person.01012562641.41
232 rdf:rest N5d0ab72c79674340bd0c68c1ed026c33
233 Nb88e24716e9d48a293aac9c91ee5dfc5 rdf:first sg:person.01170764334.60
234 rdf:rest N01bb5d23706e4613aef5c7fea43de47b
235 Nb916304f95dc45cbb5262ee54bab8b39 rdf:first sg:person.0575513774.52
236 rdf:rest N969b79014f2746ccbfc59a41d3cbe1e0
237 Nb9a3c469af3640a59b99dbfb4fd5cf99 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
238 schema:name Male
239 rdf:type schema:DefinedTerm
240 Nbf63a1eb6e484467942ef83aeac8e147 rdf:first sg:person.014011776500.13
241 rdf:rest Ne7502748b7cf4d9ea7e1af65a04e6402
242 Nc06574fd8f8c480cbfefbe3c015d5c31 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
243 schema:name Speech Disorders
244 rdf:type schema:DefinedTerm
245 Nc1e8d715c14f48df9b9b4d99238a21ec rdf:first sg:person.0705101106.89
246 rdf:rest rdf:nil
247 Ncaac158663594b59abe950dea8c8f723 schema:name dimensions_id
248 schema:value pub.1036612215
249 rdf:type schema:PropertyValue
250 Nd3f1e4d85e214f0898d42cc5b31daf97 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
251 schema:name Protein-Serine-Threonine Kinases
252 rdf:type schema:DefinedTerm
253 Nd8e15a1faf2f4b17ba9ad12f65231acc rdf:first sg:person.011512310764.46
254 rdf:rest N6045aec0114e4cf586b6f26801dc26b5
255 Ndb9031786d504850bdafc183586106dd rdf:first sg:person.01002244055.83
256 rdf:rest Nb437990fa0c14b2daf1a166f8b2497a0
257 Ndff6da09009241529f6ca6f21c9cf9ed rdf:first sg:person.01275770002.53
258 rdf:rest N2664fad1dd2340dfb99d8fb3547b2119
259 Ne4309016c7f149a09480fa9c91d9d94f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
260 schema:name Microcephaly
261 rdf:type schema:DefinedTerm
262 Ne4c6f12693684d64b8fe487cc8b38d15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
263 schema:name Young Adult
264 rdf:type schema:DefinedTerm
265 Ne61331deb3814f209d514119114c1728 rdf:first sg:person.01354620530.45
266 rdf:rest Nea833c92037a4b668cb14a6781012553
267 Ne7502748b7cf4d9ea7e1af65a04e6402 rdf:first sg:person.0655617372.21
268 rdf:rest N188ac62bafe8459e8e213f67aadb2a3c
269 Nea833c92037a4b668cb14a6781012553 rdf:first sg:person.011521062037.54
270 rdf:rest Ndff6da09009241529f6ca6f21c9cf9ed
271 Neecb9e71f8e64f9f8e4b365af2add7b7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
272 schema:name Syndrome
273 rdf:type schema:DefinedTerm
274 Nef141c3e52c14f449ca4abcd6b0a5b3e schema:volumeNumber 21
275 rdf:type schema:PublicationVolume
276 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
277 schema:name Biological Sciences
278 rdf:type schema:DefinedTerm
279 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
280 schema:name Genetics
281 rdf:type schema:DefinedTerm
282 sg:grant.2552909 http://pending.schema.org/fundedItem sg:pub.10.1038/mp.2015.5
283 rdf:type schema:MonetaryGrant
284 sg:grant.2562713 http://pending.schema.org/fundedItem sg:pub.10.1038/mp.2015.5
285 rdf:type schema:MonetaryGrant
286 sg:grant.3624898 http://pending.schema.org/fundedItem sg:pub.10.1038/mp.2015.5
287 rdf:type schema:MonetaryGrant
288 sg:grant.3804163 http://pending.schema.org/fundedItem sg:pub.10.1038/mp.2015.5
289 rdf:type schema:MonetaryGrant
290 sg:journal.1115540 schema:issn 1359-4184
291 1476-5578
292 schema:name Molecular Psychiatry
293 schema:publisher Springer Nature
294 rdf:type schema:Periodical
295 sg:person.01002244055.83 schema:affiliation grid-institutes:grid.410569.f
296 schema:familyName Cristofoli
297 schema:givenName F
298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002244055.83
299 rdf:type schema:Person
300 sg:person.01012562641.41 schema:affiliation grid-institutes:None
301 schema:familyName Peeters
302 schema:givenName H
303 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012562641.41
304 rdf:type schema:Person
305 sg:person.011464725062.51 schema:affiliation grid-institutes:grid.10417.33
306 schema:familyName de Vries
307 schema:givenName B B A
308 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011464725062.51
309 rdf:type schema:Person
310 sg:person.011512310764.46 schema:affiliation grid-institutes:grid.10417.33
311 schema:familyName Willemsen
312 schema:givenName M H
313 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011512310764.46
314 rdf:type schema:Person
315 sg:person.011521062037.54 schema:affiliation grid-institutes:grid.34477.33
316 schema:familyName Bernier
317 schema:givenName R
318 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011521062037.54
319 rdf:type schema:Person
320 sg:person.01160151711.59 schema:affiliation grid-institutes:grid.10417.33
321 schema:familyName Kleefstra
322 schema:givenName T
323 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160151711.59
324 rdf:type schema:Person
325 sg:person.01170764334.60 schema:affiliation grid-institutes:grid.34477.33
326 schema:familyName Witherspoon
327 schema:givenName K
328 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170764334.60
329 rdf:type schema:Person
330 sg:person.012173672464.28 schema:affiliation grid-institutes:grid.1010.0
331 schema:familyName Kumar
332 schema:givenName R
333 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012173672464.28
334 rdf:type schema:Person
335 sg:person.012175060164.22 schema:affiliation grid-institutes:grid.1010.0
336 schema:familyName Gecz
337 schema:givenName J
338 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012175060164.22
339 rdf:type schema:Person
340 sg:person.01250667505.07 schema:affiliation grid-institutes:None
341 schema:familyName Bosco
342 schema:givenName P
343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250667505.07
344 rdf:type schema:Person
345 sg:person.01275770002.53 schema:affiliation grid-institutes:None
346 schema:familyName Green
347 schema:givenName C
348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275770002.53
349 rdf:type schema:Person
350 sg:person.01313560653.12 schema:affiliation grid-institutes:None
351 schema:familyName Scheffer
352 schema:givenName I
353 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313560653.12
354 rdf:type schema:Person
355 sg:person.01314206025.72 schema:affiliation grid-institutes:grid.27860.3b
356 schema:familyName Amaral
357 schema:givenName D
358 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314206025.72
359 rdf:type schema:Person
360 sg:person.01346744641.93 schema:affiliation grid-institutes:grid.414733.6
361 schema:familyName Haan
362 schema:givenName E
363 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346744641.93
364 rdf:type schema:Person
365 sg:person.01354620530.45 schema:affiliation grid-institutes:grid.34477.33
366 schema:familyName Coe
367 schema:givenName B P
368 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45
369 rdf:type schema:Person
370 sg:person.01366554275.12 schema:affiliation grid-institutes:grid.27860.3b
371 schema:familyName Li
372 schema:givenName D
373 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366554275.12
374 rdf:type schema:Person
375 sg:person.014011776500.13 schema:affiliation grid-institutes:None
376 schema:familyName Romano
377 schema:givenName C
378 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13
379 rdf:type schema:Person
380 sg:person.0575513774.52 schema:affiliation grid-institutes:grid.8158.4
381 schema:familyName Fichera
382 schema:givenName M
383 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52
384 rdf:type schema:Person
385 sg:person.0655617372.21 schema:affiliation grid-institutes:grid.34477.33
386 schema:familyName Mefford
387 schema:givenName H C
388 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655617372.21
389 rdf:type schema:Person
390 sg:person.0705101106.89 schema:affiliation grid-institutes:grid.34477.33
391 schema:familyName Eichler
392 schema:givenName E E
393 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
394 rdf:type schema:Person
395 sg:person.0726271414.84 schema:affiliation grid-institutes:grid.34477.33
396 schema:familyName Gerdts
397 schema:givenName J
398 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726271414.84
399 rdf:type schema:Person
400 sg:person.07500103754.15 schema:affiliation grid-institutes:grid.1010.0
401 schema:familyName van Bon
402 schema:givenName B W M
403 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07500103754.15
404 rdf:type schema:Person
405 sg:pub.10.1038/nature10945 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050249412
406 https://doi.org/10.1038/nature10945
407 rdf:type schema:CreativeWork
408 sg:pub.10.1038/nature13772 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041044240
409 https://doi.org/10.1038/nature13772
410 rdf:type schema:CreativeWork
411 sg:pub.10.1038/nature13908 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046951438
412 https://doi.org/10.1038/nature13908
413 rdf:type schema:CreativeWork
414 sg:pub.10.1038/ng.2646 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008791569
415 https://doi.org/10.1038/ng.2646
416 rdf:type schema:CreativeWork
417 sg:pub.10.1038/ng.2899 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009348024
418 https://doi.org/10.1038/ng.2899
419 rdf:type schema:CreativeWork
420 sg:pub.10.1038/ng.835 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018708872
421 https://doi.org/10.1038/ng.835
422 rdf:type schema:CreativeWork
423 sg:pub.10.1038/nrm3454 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002187607
424 https://doi.org/10.1038/nrm3454
425 rdf:type schema:CreativeWork
426 grid-institutes:None schema:alternateName Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia
427 I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
428 Leuven Autism Research (LAuRes), Leuven, Belgium
429 schema:name Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
430 Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia
431 I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
432 Leuven Autism Research (LAuRes), Leuven, Belgium
433 rdf:type schema:Organization
434 grid-institutes:grid.1010.0 schema:alternateName Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia
435 School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
436 schema:name Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
437 Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia
438 School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
439 South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia
440 rdf:type schema:Organization
441 grid-institutes:grid.10417.33 schema:alternateName Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
442 Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
443 schema:name Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
444 Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
445 rdf:type schema:Organization
446 grid-institutes:grid.27860.3b schema:alternateName Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA
447 schema:name Representing the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USA
448 rdf:type schema:Organization
449 grid-institutes:grid.34477.33 schema:alternateName Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
450 Department of Psychiatry, University of Washington, Seattle, WA, USA
451 Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
452 schema:name Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
453 Department of Psychiatry, University of Washington, Seattle, WA, USA
454 Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
455 rdf:type schema:Organization
456 grid-institutes:grid.410569.f schema:alternateName Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
457 schema:name Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
458 rdf:type schema:Organization
459 grid-institutes:grid.414733.6 schema:alternateName South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia
460 schema:name School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
461 South Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australia
462 rdf:type schema:Organization
463 grid-institutes:grid.8158.4 schema:alternateName Medical Genetics, University of Catania, Catania, Italy
464 schema:name I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
465 Medical Genetics, University of Catania, Catania, Italy
466 rdf:type schema:Organization
 




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


...