Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Mark A. Corbett, Clare L. van Eyk, Dani L. Webber, Stephen J. Bent, Morgan Newman, Kelly Harper, Jesia G. Berry, Dimitar N. Azmanov, Karen J. Woodward, Alison E. Gardner, Jennie Slee, Luís A. Pérez-Jurado, Alastair H. MacLennan, Jozef Gecz

ABSTRACT

Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by exome sequencing and a further 5% (9/182) from evidence of outlier gene expression using RNA sequencing. Here, we detected copy number variants (CNV) from exomes of 186 unrelated individuals with CP (including our original 98 trios) using the CoNIFER algorithm. CNV were validated with Illumina 850 K SNP arrays and compared with RNA-Seq outlier gene expression analysis from lymphoblastoid cell lines (LCL). Gene expression was highly correlated with gene dosage effect. We resolved an additional 3.7% (7/186) of this cohort with pathogenic or likely pathogenic CNV while a further 7.7% (14/186) had CNV of uncertain significance. We identified recurrent genomic rearrangements previously associated with CP due to 2p25.3 deletion, 22q11.2 deletions and duplications and Xp monosomy. We also discovered a deletion of a single gene, PDCD6IP, and performed additional zebrafish model studies to support its single allele loss in CP aetiology. Combined SNV and CNV analysis revealed pathogenic and likely pathogenic variants in 22.7% of unselected individuals with CP. More... »

PAGES

33

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41525-018-0073-4

DOI

http://dx.doi.org/10.1038/s41525-018-0073-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110510296

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30564460


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Corbett", 
        "givenName": "Mark A.", 
        "id": "sg:person.01154477760.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154477760.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Eyk", 
        "givenName": "Clare L.", 
        "id": "sg:person.0762476567.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762476567.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Webber", 
        "givenName": "Dani L.", 
        "id": "sg:person.013753174564.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013753174564.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Data61", 
          "id": "https://www.grid.ac/institutes/grid.425461.0", 
          "name": [
            "Data61, Commonwealth Scientific and Industrial Research Organisation, Ecosciences Precinct, Dutton Park, 4102, Brisbane, QLD, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bent", 
        "givenName": "Stephen J.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "School of Biological Sciences, University of Adelaide, 5005, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Newman", 
        "givenName": "Morgan", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harper", 
        "givenName": "Kelly", 
        "id": "sg:person.012450651116.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012450651116.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Berry", 
        "givenName": "Jesia G.", 
        "id": "sg:person.01233302045.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233302045.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Queen Elizabeth II Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.415461.3", 
          "name": [
            "Department of Diagnostic Genomics, Queen Elizabeth II Medical Centre, PathWest, 6009, Nedlands, WA, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Azmanov", 
        "givenName": "Dimitar N.", 
        "id": "sg:person.0751276557.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751276557.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Western Australia", 
          "id": "https://www.grid.ac/institutes/grid.1012.2", 
          "name": [
            "Department of Diagnostic Genomics, Queen Elizabeth II Medical Centre, PathWest, 6009, Nedlands, WA, Australia", 
            "School of Biomedical Sciences, University of Western Australia, 6009, Perth, WA, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Woodward", 
        "givenName": "Karen J.", 
        "id": "sg:person.01100533563.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100533563.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gardner", 
        "givenName": "Alison E.", 
        "id": "sg:person.0746655253.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746655253.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Edward Memorial Hospital", 
          "id": "https://www.grid.ac/institutes/grid.415259.e", 
          "name": [
            "Genetic Services of Western Australia, King Edward Memorial Hospital, 6008, Subiaco, WA, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Slee", 
        "givenName": "Jennie", 
        "id": "sg:person.01312045421.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312045421.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "South Australian Health and Medical Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.430453.5", 
          "name": [
            "Genetics Unit, Universitat Pompeu Fabra, 08003, Barcelona, Spain", 
            "Hospital del Mar Research Institute (IMIM) and Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 08003, Barcelona, Spain", 
            "SA Clinical Genetics, Women\u2019s and Children\u2019s Hospital & University of Adelaide, 5006, Adelaide, South Australia, Australia", 
            "South Australian Health and Medical Research Institute, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "P\u00e9rez-Jurado", 
        "givenName": "Lu\u00eds A.", 
        "id": "sg:person.01320305415.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320305415.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Adelaide", 
          "id": "https://www.grid.ac/institutes/grid.1010.0", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "MacLennan", 
        "givenName": "Alastair H.", 
        "id": "sg:person.0734710615.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734710615.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "South Australian Health and Medical Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.430453.5", 
          "name": [
            "Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia", 
            "South Australian Health and Medical Research Institute, 5000, Adelaide, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gecz", 
        "givenName": "Jozef", 
        "id": "sg:person.012335367217.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/978-1-4939-3578-9_16", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000858532", 
          "https://doi.org/10.1007/978-1-4939-3578-9_16"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.32.7.561", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002334530"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.31416", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006569868"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.b.32427", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008755864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2008.07.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009345322"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2013.93", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011277278", 
          "https://doi.org/10.1038/ejhg.2013.93"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.138115.112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012345617"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/gb-2013-14-4-r36", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015459845", 
          "https://doi.org/10.1186/gb-2013-14-4-r36"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.6861907", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016380326"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btr330", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018404011"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.13026", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019925129"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddi415", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021215227"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1846", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022544502", 
          "https://doi.org/10.1038/ng1846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1846", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022544502", 
          "https://doi.org/10.1038/ng1846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.23971", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023738378"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.37820", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023964345"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2009.06.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024050823"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2851", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027745213", 
          "https://doi.org/10.1038/ng.2851"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2010.082263", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028059493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.78", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029791070", 
          "https://doi.org/10.1038/gim.2015.78"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2011.04.019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032724835"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2377-4-20", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039107399", 
          "https://doi.org/10.1186/1471-2377-4-20"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2014.124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039673254", 
          "https://doi.org/10.1038/gim.2014.124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms8949", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040000228", 
          "https://doi.org/10.1038/ncomms8949"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000438708", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046135063"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.32278", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046980794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms11876", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048638895", 
          "https://doi.org/10.1038/ncomms11876"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/mp.2014.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051152231", 
          "https://doi.org/10.1038/mp.2014.189"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.13012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052250791"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btu638", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053282140"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1017/s0012162200001262", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1054776450"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001494", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001494", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001494", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cge.12997", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083850382"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/gim.2016.163", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085768126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms15824", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1085983509", 
          "https://doi.org/10.1038/ncomms15824"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2017.83", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090954500", 
          "https://doi.org/10.1038/gim.2017.83"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.13643", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100421665"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41398-018-0136-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103510318", 
          "https://doi.org/10.1038/s41398-018-0136-4"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by exome sequencing and a further 5% (9/182) from evidence of outlier gene expression using RNA sequencing. Here, we detected copy number variants (CNV) from exomes of 186 unrelated individuals with CP (including our original 98 trios) using the CoNIFER algorithm. CNV were validated with Illumina 850\u2009K SNP arrays and compared with RNA-Seq outlier gene expression analysis from lymphoblastoid cell lines (LCL). Gene expression was highly correlated with gene dosage effect. We resolved an additional 3.7% (7/186) of this cohort with pathogenic or likely pathogenic CNV while a further 7.7% (14/186) had CNV of uncertain significance. We identified recurrent genomic rearrangements previously associated with CP due to 2p25.3 deletion, 22q11.2 deletions and duplications and Xp monosomy. We also discovered a deletion of a single gene, PDCD6IP, and performed additional zebrafish model studies to support its single allele loss in CP aetiology. Combined SNV and CNV analysis revealed pathogenic and likely pathogenic variants in 22.7% of unselected individuals with CP.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41525-018-0073-4", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6735524", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6717381", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1053748", 
        "issn": [
          "2056-7944"
        ], 
        "name": "npj Genomic Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "3"
      }
    ], 
    "name": "Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy", 
    "pagination": "33", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "5ddd419d5a97e84b12a58b6f05de9071cb6e7530dcf52aeada654f3602e1f26c"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30564460"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101685193"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41525-018-0073-4"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1110510296"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41525-018-0073-4", 
      "https://app.dimensions.ai/details/publication/pub.1110510296"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T08:30", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000309_0000000309/records_106265_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41525-018-0073-4"
  }
]
 

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/s41525-018-0073-4'

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/s41525-018-0073-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41525-018-0073-4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41525-018-0073-4'


 

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

307 TRIPLES      21 PREDICATES      66 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41525-018-0073-4 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N27cfdb45fe2c4ce89bba65892937b097
4 schema:citation sg:pub.10.1007/978-1-4939-3578-9_16
5 sg:pub.10.1038/ejhg.2013.93
6 sg:pub.10.1038/gim.2014.124
7 sg:pub.10.1038/gim.2015.78
8 sg:pub.10.1038/gim.2017.83
9 sg:pub.10.1038/mp.2014.189
10 sg:pub.10.1038/ncomms11876
11 sg:pub.10.1038/ncomms15824
12 sg:pub.10.1038/ncomms8949
13 sg:pub.10.1038/ng.2851
14 sg:pub.10.1038/ng1846
15 sg:pub.10.1038/s41398-018-0136-4
16 sg:pub.10.1186/1471-2377-4-20
17 sg:pub.10.1186/gb-2013-14-4-r36
18 https://doi.org/10.1002/ajmg.a.31416
19 https://doi.org/10.1002/ajmg.a.32278
20 https://doi.org/10.1002/ajmg.a.37820
21 https://doi.org/10.1002/ajmg.b.32427
22 https://doi.org/10.1002/ana.23971
23 https://doi.org/10.1016/j.ajhg.2009.06.004
24 https://doi.org/10.1016/j.ajhg.2011.04.019
25 https://doi.org/10.1016/j.ejmg.2008.07.005
26 https://doi.org/10.1017/s0012162200001262
27 https://doi.org/10.1038/gim.2016.163
28 https://doi.org/10.1093/bioinformatics/btr330
29 https://doi.org/10.1093/bioinformatics/btu638
30 https://doi.org/10.1093/hmg/ddi415
31 https://doi.org/10.1101/gr.138115.112
32 https://doi.org/10.1101/gr.6861907
33 https://doi.org/10.1111/cge.12997
34 https://doi.org/10.1111/dmcn.13012
35 https://doi.org/10.1111/dmcn.13026
36 https://doi.org/10.1111/dmcn.13643
37 https://doi.org/10.1136/jmg.2010.082263
38 https://doi.org/10.1136/jmg.32.7.561
39 https://doi.org/10.1159/000438708
40 https://doi.org/10.1212/wnl.0000000000001494
41 schema:datePublished 2018-12
42 schema:datePublishedReg 2018-12-01
43 schema:description Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by exome sequencing and a further 5% (9/182) from evidence of outlier gene expression using RNA sequencing. Here, we detected copy number variants (CNV) from exomes of 186 unrelated individuals with CP (including our original 98 trios) using the CoNIFER algorithm. CNV were validated with Illumina 850 K SNP arrays and compared with RNA-Seq outlier gene expression analysis from lymphoblastoid cell lines (LCL). Gene expression was highly correlated with gene dosage effect. We resolved an additional 3.7% (7/186) of this cohort with pathogenic or likely pathogenic CNV while a further 7.7% (14/186) had CNV of uncertain significance. We identified recurrent genomic rearrangements previously associated with CP due to 2p25.3 deletion, 22q11.2 deletions and duplications and Xp monosomy. We also discovered a deletion of a single gene, <i>PDCD6IP</i>, and performed additional zebrafish model studies to support its single allele loss in CP aetiology. Combined SNV and CNV analysis revealed pathogenic and likely pathogenic variants in 22.7% of unselected individuals with CP.
44 schema:genre research_article
45 schema:inLanguage en
46 schema:isAccessibleForFree true
47 schema:isPartOf N6ae7861440b14110b5ade19cd29fb38d
48 N8aa88e96cc7140a9ba34cb0c11dbf578
49 sg:journal.1053748
50 schema:name Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
51 schema:pagination 33
52 schema:productId N03214c5190854968bf71cb38e1ad40ea
53 N0cff7f6c01194614a4e245f7bb80863f
54 N102e00bc31e74011ad52004b89a18079
55 N48ff3c0036b141c99a6f79de92d09bf8
56 Nccf34f44f68d4aa09a1d1e4bdab89896
57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1110510296
58 https://doi.org/10.1038/s41525-018-0073-4
59 schema:sdDatePublished 2019-04-11T08:30
60 schema:sdLicense https://scigraph.springernature.com/explorer/license/
61 schema:sdPublisher N42c243b3939f48c393fc62a98c7f8ce0
62 schema:url https://www.nature.com/articles/s41525-018-0073-4
63 sgo:license sg:explorer/license/
64 sgo:sdDataset articles
65 rdf:type schema:ScholarlyArticle
66 N02d83c0d52eb4a74bb7321568883a8eb rdf:first N75dcc82b308143fe9815695d625d08f5
67 rdf:rest N22d9352b70ad46fa9718b27d252b4905
68 N03214c5190854968bf71cb38e1ad40ea schema:name pubmed_id
69 schema:value 30564460
70 rdf:type schema:PropertyValue
71 N0cff7f6c01194614a4e245f7bb80863f schema:name readcube_id
72 schema:value 5ddd419d5a97e84b12a58b6f05de9071cb6e7530dcf52aeada654f3602e1f26c
73 rdf:type schema:PropertyValue
74 N102e00bc31e74011ad52004b89a18079 schema:name nlm_unique_id
75 schema:value 101685193
76 rdf:type schema:PropertyValue
77 N22d9352b70ad46fa9718b27d252b4905 rdf:first sg:person.012450651116.74
78 rdf:rest N71d2f50f8c594464a8704f5039ca60e3
79 N27cfdb45fe2c4ce89bba65892937b097 rdf:first sg:person.01154477760.84
80 rdf:rest N28b15fdd7426418e95451d8f0c7ee5c4
81 N28b15fdd7426418e95451d8f0c7ee5c4 rdf:first sg:person.0762476567.23
82 rdf:rest N42bbb3e59cbb494b801e621769b0e377
83 N3dbbd0182fd24d498ab2c92227e3768a rdf:first N4d9d0cf94d104a8e9e789b33368f94b7
84 rdf:rest N02d83c0d52eb4a74bb7321568883a8eb
85 N42bbb3e59cbb494b801e621769b0e377 rdf:first sg:person.013753174564.85
86 rdf:rest N3dbbd0182fd24d498ab2c92227e3768a
87 N42c243b3939f48c393fc62a98c7f8ce0 schema:name Springer Nature - SN SciGraph project
88 rdf:type schema:Organization
89 N4648961a00b54898b23eee0bd157bba5 rdf:first sg:person.01100533563.60
90 rdf:rest N98077018deca4f2fbdfdb997ed23782e
91 N48ff3c0036b141c99a6f79de92d09bf8 schema:name doi
92 schema:value 10.1038/s41525-018-0073-4
93 rdf:type schema:PropertyValue
94 N4d9d0cf94d104a8e9e789b33368f94b7 schema:affiliation https://www.grid.ac/institutes/grid.425461.0
95 schema:familyName Bent
96 schema:givenName Stephen J.
97 rdf:type schema:Person
98 N6ae7861440b14110b5ade19cd29fb38d schema:volumeNumber 3
99 rdf:type schema:PublicationVolume
100 N71d2f50f8c594464a8704f5039ca60e3 rdf:first sg:person.01233302045.23
101 rdf:rest Nc35f5b682d514777b366cd2971235969
102 N75dcc82b308143fe9815695d625d08f5 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
103 schema:familyName Newman
104 schema:givenName Morgan
105 rdf:type schema:Person
106 N7ceb04c0e0714d599d12d3bacacf7245 rdf:first sg:person.01320305415.64
107 rdf:rest Nca5254e1f48b4db9b0dbe0d96a9ee71f
108 N824506d46ff240b9b16f003f26e263f0 rdf:first sg:person.012335367217.22
109 rdf:rest rdf:nil
110 N8aa88e96cc7140a9ba34cb0c11dbf578 schema:issueNumber 1
111 rdf:type schema:PublicationIssue
112 N98077018deca4f2fbdfdb997ed23782e rdf:first sg:person.0746655253.09
113 rdf:rest Nedd6e593c40e4f85a06111af537a5bb2
114 Nc35f5b682d514777b366cd2971235969 rdf:first sg:person.0751276557.72
115 rdf:rest N4648961a00b54898b23eee0bd157bba5
116 Nca5254e1f48b4db9b0dbe0d96a9ee71f rdf:first sg:person.0734710615.64
117 rdf:rest N824506d46ff240b9b16f003f26e263f0
118 Nccf34f44f68d4aa09a1d1e4bdab89896 schema:name dimensions_id
119 schema:value pub.1110510296
120 rdf:type schema:PropertyValue
121 Nedd6e593c40e4f85a06111af537a5bb2 rdf:first sg:person.01312045421.00
122 rdf:rest N7ceb04c0e0714d599d12d3bacacf7245
123 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
124 schema:name Biological Sciences
125 rdf:type schema:DefinedTerm
126 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
127 schema:name Genetics
128 rdf:type schema:DefinedTerm
129 sg:grant.6717381 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-018-0073-4
130 rdf:type schema:MonetaryGrant
131 sg:grant.6735524 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-018-0073-4
132 rdf:type schema:MonetaryGrant
133 sg:journal.1053748 schema:issn 2056-7944
134 schema:name npj Genomic Medicine
135 rdf:type schema:Periodical
136 sg:person.01100533563.60 schema:affiliation https://www.grid.ac/institutes/grid.1012.2
137 schema:familyName Woodward
138 schema:givenName Karen J.
139 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100533563.60
140 rdf:type schema:Person
141 sg:person.01154477760.84 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
142 schema:familyName Corbett
143 schema:givenName Mark A.
144 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154477760.84
145 rdf:type schema:Person
146 sg:person.01233302045.23 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
147 schema:familyName Berry
148 schema:givenName Jesia G.
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233302045.23
150 rdf:type schema:Person
151 sg:person.012335367217.22 schema:affiliation https://www.grid.ac/institutes/grid.430453.5
152 schema:familyName Gecz
153 schema:givenName Jozef
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22
155 rdf:type schema:Person
156 sg:person.012450651116.74 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
157 schema:familyName Harper
158 schema:givenName Kelly
159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012450651116.74
160 rdf:type schema:Person
161 sg:person.01312045421.00 schema:affiliation https://www.grid.ac/institutes/grid.415259.e
162 schema:familyName Slee
163 schema:givenName Jennie
164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312045421.00
165 rdf:type schema:Person
166 sg:person.01320305415.64 schema:affiliation https://www.grid.ac/institutes/grid.430453.5
167 schema:familyName Pérez-Jurado
168 schema:givenName Luís A.
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320305415.64
170 rdf:type schema:Person
171 sg:person.013753174564.85 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
172 schema:familyName Webber
173 schema:givenName Dani L.
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013753174564.85
175 rdf:type schema:Person
176 sg:person.0734710615.64 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
177 schema:familyName MacLennan
178 schema:givenName Alastair H.
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734710615.64
180 rdf:type schema:Person
181 sg:person.0746655253.09 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
182 schema:familyName Gardner
183 schema:givenName Alison E.
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746655253.09
185 rdf:type schema:Person
186 sg:person.0751276557.72 schema:affiliation https://www.grid.ac/institutes/grid.415461.3
187 schema:familyName Azmanov
188 schema:givenName Dimitar N.
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751276557.72
190 rdf:type schema:Person
191 sg:person.0762476567.23 schema:affiliation https://www.grid.ac/institutes/grid.1010.0
192 schema:familyName van Eyk
193 schema:givenName Clare L.
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762476567.23
195 rdf:type schema:Person
196 sg:pub.10.1007/978-1-4939-3578-9_16 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000858532
197 https://doi.org/10.1007/978-1-4939-3578-9_16
198 rdf:type schema:CreativeWork
199 sg:pub.10.1038/ejhg.2013.93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011277278
200 https://doi.org/10.1038/ejhg.2013.93
201 rdf:type schema:CreativeWork
202 sg:pub.10.1038/gim.2014.124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039673254
203 https://doi.org/10.1038/gim.2014.124
204 rdf:type schema:CreativeWork
205 sg:pub.10.1038/gim.2015.78 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029791070
206 https://doi.org/10.1038/gim.2015.78
207 rdf:type schema:CreativeWork
208 sg:pub.10.1038/gim.2017.83 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090954500
209 https://doi.org/10.1038/gim.2017.83
210 rdf:type schema:CreativeWork
211 sg:pub.10.1038/mp.2014.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051152231
212 https://doi.org/10.1038/mp.2014.189
213 rdf:type schema:CreativeWork
214 sg:pub.10.1038/ncomms11876 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048638895
215 https://doi.org/10.1038/ncomms11876
216 rdf:type schema:CreativeWork
217 sg:pub.10.1038/ncomms15824 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085983509
218 https://doi.org/10.1038/ncomms15824
219 rdf:type schema:CreativeWork
220 sg:pub.10.1038/ncomms8949 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040000228
221 https://doi.org/10.1038/ncomms8949
222 rdf:type schema:CreativeWork
223 sg:pub.10.1038/ng.2851 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027745213
224 https://doi.org/10.1038/ng.2851
225 rdf:type schema:CreativeWork
226 sg:pub.10.1038/ng1846 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022544502
227 https://doi.org/10.1038/ng1846
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/s41398-018-0136-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103510318
230 https://doi.org/10.1038/s41398-018-0136-4
231 rdf:type schema:CreativeWork
232 sg:pub.10.1186/1471-2377-4-20 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039107399
233 https://doi.org/10.1186/1471-2377-4-20
234 rdf:type schema:CreativeWork
235 sg:pub.10.1186/gb-2013-14-4-r36 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015459845
236 https://doi.org/10.1186/gb-2013-14-4-r36
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1002/ajmg.a.31416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006569868
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1002/ajmg.a.32278 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046980794
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1002/ajmg.a.37820 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023964345
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1002/ajmg.b.32427 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008755864
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1002/ana.23971 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023738378
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1016/j.ajhg.2009.06.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024050823
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1016/j.ajhg.2011.04.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032724835
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1016/j.ejmg.2008.07.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009345322
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1017/s0012162200001262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054776450
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1038/gim.2016.163 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085768126
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1093/bioinformatics/btr330 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018404011
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1093/bioinformatics/btu638 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053282140
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1093/hmg/ddi415 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021215227
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1101/gr.138115.112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012345617
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1101/gr.6861907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016380326
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1111/cge.12997 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083850382
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1111/dmcn.13012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052250791
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1111/dmcn.13026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019925129
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1111/dmcn.13643 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100421665
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1136/jmg.2010.082263 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028059493
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1136/jmg.32.7.561 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002334530
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1159/000438708 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046135063
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1212/wnl.0000000000001494 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064352817
283 rdf:type schema:CreativeWork
284 https://www.grid.ac/institutes/grid.1010.0 schema:alternateName University of Adelaide
285 schema:name Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia
286 School of Biological Sciences, University of Adelaide, 5005, Adelaide, South Australia, Australia
287 rdf:type schema:Organization
288 https://www.grid.ac/institutes/grid.1012.2 schema:alternateName University of Western Australia
289 schema:name Department of Diagnostic Genomics, Queen Elizabeth II Medical Centre, PathWest, 6009, Nedlands, WA, Australia
290 School of Biomedical Sciences, University of Western Australia, 6009, Perth, WA, Australia
291 rdf:type schema:Organization
292 https://www.grid.ac/institutes/grid.415259.e schema:alternateName King Edward Memorial Hospital
293 schema:name Genetic Services of Western Australia, King Edward Memorial Hospital, 6008, Subiaco, WA, Australia
294 rdf:type schema:Organization
295 https://www.grid.ac/institutes/grid.415461.3 schema:alternateName Queen Elizabeth II Medical Centre
296 schema:name Department of Diagnostic Genomics, Queen Elizabeth II Medical Centre, PathWest, 6009, Nedlands, WA, Australia
297 rdf:type schema:Organization
298 https://www.grid.ac/institutes/grid.425461.0 schema:alternateName Data61
299 schema:name Data61, Commonwealth Scientific and Industrial Research Organisation, Ecosciences Precinct, Dutton Park, 4102, Brisbane, QLD, Australia
300 rdf:type schema:Organization
301 https://www.grid.ac/institutes/grid.430453.5 schema:alternateName South Australian Health and Medical Research Institute
302 schema:name Genetics Unit, Universitat Pompeu Fabra, 08003, Barcelona, Spain
303 Hospital del Mar Research Institute (IMIM) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 08003, Barcelona, Spain
304 Robinson Research Institute & Adelaide Medical School, University of Adelaide, 5000, Adelaide, South Australia, Australia
305 SA Clinical Genetics, Women’s and Children’s Hospital & University of Adelaide, 5006, Adelaide, South Australia, Australia
306 South Australian Health and Medical Research Institute, 5000, Adelaide, South Australia, Australia
307 rdf:type schema:Organization
 




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


...