Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-06-26

AUTHORS

Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee, Christian R. Marshall, Stephen W. Scherer, Anita Sik Yau Kan, Brian Hon Yin Chung

ABSTRACT

BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings. More... »

PAGES

31

References to SciGraph publications

  • 2016-04-01. Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder in MOLECULAR AUTISM
  • 2014-03-01. Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population in JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B
  • 2010-04-04. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing in NATURE GENETICS
  • 2014-08-23. Copy number variation in Han Chinese individuals with autism spectrum disorder in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2009-04-28. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility in MOLECULAR PSYCHIATRY
  • 2013-03-21. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions in GENETICS IN MEDICINE
  • 2008-05-30. Strong association of de novo copy number mutations with sporadic schizophrenia in NATURE GENETICS
  • 2007-03-30. Autism spectrum disorder and Klinefelter syndrome in EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
  • 2014-12-11. A high-resolution copy-number variation resource for clinical and population genetics in GENETICS IN MEDICINE
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2009-04-28. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes in NATURE
  • 2013-09-26. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 in GENETICS IN MEDICINE
  • 2013-12-18. CNVs conferring risk of autism or schizophrenia affect cognition in controls in NATURE
  • 2011-05-26. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders in JOURNAL OF HUMAN GENETICS
  • 2011-08-14. A Copy Number Variation Morbidity Map of Developmental Delay in NATURE GENETICS
  • 2011-06-15. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants in GENETICS IN MEDICINE
  • 2010-12-08. Phenotypic manifestations of copy number variation in chromosome 16p13.11 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-11-20. Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder in MOLECULAR PSYCHIATRY
  • 2015-01-26. Whole-genome sequencing of quartet families with autism spectrum disorder in NATURE MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13229-017-0136-x

    DOI

    http://dx.doi.org/10.1186/s13229-017-0136-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1086274042

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28670437


    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/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Clinical Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Neurosciences", 
            "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": "Asian Continental Ancestry Group", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Autism Spectrum 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": "China", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Copy Number Variations", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Dipeptidyl-Peptidases and Tripeptidyl-Peptidases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Infant", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Oligonucleotide Array Sequence Analysis", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.415499.4", 
              "name": [
                "Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mak", 
            "givenName": "Annisa Shui Lam", 
            "id": "sg:person.010757706061.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010757706061.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chiu", 
            "givenName": "Annie Ting Gee", 
            "id": "sg:person.014634211301.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014634211301.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Leung", 
            "givenName": "Gordon Ka Chun", 
            "id": "sg:person.01136041631.98", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136041631.98"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mak", 
            "givenName": "Christopher Chun Yu", 
            "id": "sg:person.013241001572.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013241001572.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chu", 
            "givenName": "Yoyo Wing Yiu", 
            "id": "sg:person.0731074614.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731074614.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mok", 
            "givenName": "Gary Tsz Kin", 
            "id": "sg:person.01102614232.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102614232.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tang", 
            "givenName": "Fai", 
            "id": "sg:person.01136112471.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136112471.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.460837.e", 
              "name": [
                "Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chan", 
            "givenName": "Kelvin Yuen Kwong", 
            "id": "sg:person.012773552702.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012773552702.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tang", 
            "givenName": "Mary Hoi Yin", 
            "id": "sg:person.011034213512.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011034213512.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yim", 
            "givenName": "Elizabeth Tak-Kwong Lau", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "So", 
            "givenName": "Kin Wai", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tao", 
            "givenName": "Victoria Qinchen", 
            "id": "sg:person.01053307670.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053307670.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.414186.e", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
                "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fung", 
            "givenName": "Cheuk Wing", 
            "id": "sg:person.0712203105.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712203105.36"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.414186.e", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
                "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wong", 
            "givenName": "Virginia Chun Nei", 
            "id": "sg:person.01016270214.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016270214.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Uddin", 
            "givenName": "Mohammed", 
            "id": "sg:person.0656054276.40", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656054276.40"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.414186.e", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
                "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "So Lun", 
            "id": "sg:person.01250467353.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250467353.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada", 
              "id": "http://www.grid.ac/institutes/grid.42327.30", 
              "name": [
                "The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Marshall", 
            "givenName": "Christian R.", 
            "id": "sg:person.014760624112.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014760624112.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada", 
                "McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Scherer", 
            "givenName": "Stephen W.", 
            "id": "sg:person.011066475117.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011066475117.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.460837.e", 
              "name": [
                "Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kan", 
            "givenName": "Anita Sik Yau", 
            "id": "sg:person.01020012353.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020012353.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China", 
              "id": "http://www.grid.ac/institutes/grid.414186.e", 
              "name": [
                "Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
                "Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China", 
                "Duchess of Kent Children\u2019s Hospital, Hong Kong, Special Administrative Region, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chung", 
            "givenName": "Brian Hon Yin", 
            "id": "sg:person.015515161657.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015515161657.16"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nature12818", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043154470", 
              "https://doi.org/10.1038/nature12818"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e3182217a3a", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009028405", 
              "https://doi.org/10.1097/gim.0b013e3182217a3a"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nm.3792", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034659032", 
              "https://doi.org/10.1038/nm.3792"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.555", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006886726", 
              "https://doi.org/10.1038/ng.555"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2010.184", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043066961", 
              "https://doi.org/10.1038/ejhg.2010.184"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mp.2009.34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028933507", 
              "https://doi.org/10.1038/mp.2009.34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2013.32", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009144056", 
              "https://doi.org/10.1038/gim.2013.32"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13229-016-0087-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010137534", 
              "https://doi.org/10.1186/s13229-016-0087-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00787-007-0601-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026145014", 
              "https://doi.org/10.1007/s00787-007-0601-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2014.178", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030319699", 
              "https://doi.org/10.1038/gim.2014.178"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1631/jzus.b1300133", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011465352", 
              "https://doi.org/10.1631/jzus.b1300133"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature05329", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052925490", 
              "https://doi.org/10.1038/nature05329"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2011.42", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044973069", 
              "https://doi.org/10.1038/jhg.2011.42"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1866-1955-6-34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035214646", 
              "https://doi.org/10.1186/1866-1955-6-34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.909", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020398051", 
              "https://doi.org/10.1038/ng.909"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2013.129", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027147840", 
              "https://doi.org/10.1038/gim.2013.129"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/mp.2012.161", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008963811", 
              "https://doi.org/10.1038/mp.2012.161"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07953", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039148964", 
              "https://doi.org/10.1038/nature07953"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.162", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021776763", 
              "https://doi.org/10.1038/ng.162"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2017-06-26", 
        "datePublishedReg": "2017-06-26", 
        "description": "BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD.\nMETHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature.\nRESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138\u00a0kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases.\nCONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a\u00a0population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.", 
        "genre": "article", 
        "id": "sg:pub.10.1186/s13229-017-0136-x", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1043709", 
            "issn": [
              "2040-2392"
            ], 
            "name": "Molecular Autism", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "8"
          }
        ], 
        "keywords": [
          "array comparative genomic hybridization", 
          "ASD patients", 
          "pathogenic CNVs", 
          "clinical chromosomal microarray", 
          "overall diagnostic yield", 
          "autism spectrum disorder", 
          "ancestry-matched controls", 
          "first-tier genetic test", 
          "Child Assessment Centre", 
          "Chinese patients", 
          "diagnostic yield", 
          "patients", 
          "CNV findings", 
          "uncertain significance", 
          "chromosomal microarray", 
          "comparative genomic hybridization", 
          "southern Chinese", 
          "Chinese children", 
          "genetic tests", 
          "same CNV", 
          "aCGH findings", 
          "similar duplications", 
          "genomic hybridization", 
          "DECIPHER database", 
          "spectrum disorder", 
          "children", 
          "copy number variations", 
          "interpretation of results", 
          "population frequency", 
          "DNA samples", 
          "number variants", 
          "CNVs", 
          "cohort", 
          "findings", 
          "assessment center", 
          "kb duplication", 
          "disorders", 
          "typical development", 
          "number variations", 
          "control", 
          "database", 
          "DPP10", 
          "guidelines", 
          "polymorphism", 
          "autism spectrum", 
          "microarrays", 
          "individuals", 
          "frequency", 
          "literature", 
          "significance", 
          "center", 
          "variants", 
          "test", 
          "duplication", 
          "results", 
          "use", 
          "hybridization", 
          "Chinese", 
          "samples", 
          "development", 
          "exons", 
          "importance", 
          "multiple individuals", 
          "interpretation", 
          "genomic databases", 
          "literature gap", 
          "fact", 
          "variation", 
          "gap", 
          "array", 
          "spectra", 
          "yield", 
          "non-European ASD patients", 
          "Chinese ASD patients", 
          "NimbleGen-CGX", 
          "Agilent-CGX 60k", 
          "benign CNV polymorphism", 
          "CNV polymorphism"
        ], 
        "name": "Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder\u2014implications of a copy number variation involving DPP10", 
        "pagination": "31", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1086274042"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/s13229-017-0136-x"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "28670437"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/s13229-017-0136-x", 
          "https://app.dimensions.ai/details/publication/pub.1086274042"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:46", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_751.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1186/s13229-017-0136-x"
      }
    ]
     

    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.10.1186/s13229-017-0136-x'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13229-017-0136-x'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13229-017-0136-x'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13229-017-0136-x'


     

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

    430 TRIPLES      22 PREDICATES      139 URIs      111 LITERALS      22 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/s13229-017-0136-x schema:about N18158e2f9608490597817738099167d6
    2 N26daa1403dc746cc8c5f5e6102478247
    3 N38552ab16efc4cc099b57dfbd5404883
    4 N4611c1ded22341d1b6aac192626ddcc8
    5 N5c82c706bd67403d972f68806d19db72
    6 N607ad9caf60b4cd8acd1e4fa82a82491
    7 N81269442151947a6b0e3a2b23c76e161
    8 N87cf8560acf44fe0a6906ed75256358d
    9 N8f46761da334440bb840b79833ab26b0
    10 Nb116addfac73489f812ab05a8862f998
    11 Nbbbc8e4f822b41e28c93ce68c5d26789
    12 Ncb43744962c44efd81a2d065177e8217
    13 Nea9474baf47148a5a0933a62af1af140
    14 Nef9415aa92d8464dbab1d37658e216f5
    15 Nfd04d265b5f74af1bb64d246f9e82bb7
    16 anzsrc-for:11
    17 anzsrc-for:1103
    18 anzsrc-for:1109
    19 schema:author N0834029210684367b4fbc553a50db4bd
    20 schema:citation sg:pub.10.1007/s00787-007-0601-8
    21 sg:pub.10.1038/ejhg.2010.184
    22 sg:pub.10.1038/gim.2013.129
    23 sg:pub.10.1038/gim.2013.32
    24 sg:pub.10.1038/gim.2014.178
    25 sg:pub.10.1038/jhg.2011.42
    26 sg:pub.10.1038/mp.2009.34
    27 sg:pub.10.1038/mp.2012.161
    28 sg:pub.10.1038/nature05329
    29 sg:pub.10.1038/nature07953
    30 sg:pub.10.1038/nature12818
    31 sg:pub.10.1038/ng.162
    32 sg:pub.10.1038/ng.555
    33 sg:pub.10.1038/ng.909
    34 sg:pub.10.1038/nm.3792
    35 sg:pub.10.1097/gim.0b013e3182217a3a
    36 sg:pub.10.1186/1866-1955-6-34
    37 sg:pub.10.1186/s13229-016-0087-7
    38 sg:pub.10.1631/jzus.b1300133
    39 schema:datePublished 2017-06-26
    40 schema:datePublishedReg 2017-06-26
    41 schema:description BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of <i>DPP10</i> (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The <i>DPP10</i> duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.
    42 schema:genre article
    43 schema:inLanguage en
    44 schema:isAccessibleForFree true
    45 schema:isPartOf Nd5b50b5eaf6643a598a101557fd5c73e
    46 Ne78ad441bc5a4583be183fe3d35ff765
    47 sg:journal.1043709
    48 schema:keywords ASD patients
    49 Agilent-CGX 60k
    50 CNV findings
    51 CNV polymorphism
    52 CNVs
    53 Child Assessment Centre
    54 Chinese
    55 Chinese ASD patients
    56 Chinese children
    57 Chinese patients
    58 DECIPHER database
    59 DNA samples
    60 DPP10
    61 NimbleGen-CGX
    62 aCGH findings
    63 ancestry-matched controls
    64 array
    65 array comparative genomic hybridization
    66 assessment center
    67 autism spectrum
    68 autism spectrum disorder
    69 benign CNV polymorphism
    70 center
    71 children
    72 chromosomal microarray
    73 clinical chromosomal microarray
    74 cohort
    75 comparative genomic hybridization
    76 control
    77 copy number variations
    78 database
    79 development
    80 diagnostic yield
    81 disorders
    82 duplication
    83 exons
    84 fact
    85 findings
    86 first-tier genetic test
    87 frequency
    88 gap
    89 genetic tests
    90 genomic databases
    91 genomic hybridization
    92 guidelines
    93 hybridization
    94 importance
    95 individuals
    96 interpretation
    97 interpretation of results
    98 kb duplication
    99 literature
    100 literature gap
    101 microarrays
    102 multiple individuals
    103 non-European ASD patients
    104 number variants
    105 number variations
    106 overall diagnostic yield
    107 pathogenic CNVs
    108 patients
    109 polymorphism
    110 population frequency
    111 results
    112 same CNV
    113 samples
    114 significance
    115 similar duplications
    116 southern Chinese
    117 spectra
    118 spectrum disorder
    119 test
    120 typical development
    121 uncertain significance
    122 use
    123 variants
    124 variation
    125 yield
    126 schema:name Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10
    127 schema:pagination 31
    128 schema:productId N53093cfe00e4428f8565e9d3eba387ef
    129 N865206f08f7f43ec839ea4372a7f872b
    130 Nbdd23bb583bd4571adf66845d7d4df98
    131 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086274042
    132 https://doi.org/10.1186/s13229-017-0136-x
    133 schema:sdDatePublished 2022-01-01T18:46
    134 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    135 schema:sdPublisher N38553e65c26b4ba381462978c1f6232d
    136 schema:url https://doi.org/10.1186/s13229-017-0136-x
    137 sgo:license sg:explorer/license/
    138 sgo:sdDataset articles
    139 rdf:type schema:ScholarlyArticle
    140 N06f682af1a1a43baa745b16c88d4f5f1 rdf:first sg:person.014634211301.44
    141 rdf:rest N8c9cd33d30804ddebf2d91d5a8012300
    142 N0834029210684367b4fbc553a50db4bd rdf:first sg:person.010757706061.24
    143 rdf:rest N06f682af1a1a43baa745b16c88d4f5f1
    144 N0ae47bd34e0648ffbcd3621e102bbd25 rdf:first Nd6e941f691164549a3e097934cffaa13
    145 rdf:rest N103712f42f5a4d7789ea06e873b1e38b
    146 N0c2b9c1594a94d5c91b597e1cb01d971 schema:affiliation grid-institutes:grid.194645.b
    147 schema:familyName Yim
    148 schema:givenName Elizabeth Tak-Kwong Lau
    149 rdf:type schema:Person
    150 N103712f42f5a4d7789ea06e873b1e38b rdf:first sg:person.01053307670.00
    151 rdf:rest Nc638e66942ca4cdbb39dd27a51bd504d
    152 N18158e2f9608490597817738099167d6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Oligonucleotide Array Sequence Analysis
    154 rdf:type schema:DefinedTerm
    155 N1be368d24c3143c596d67ac3c22aa70d rdf:first sg:person.01016270214.55
    156 rdf:rest N7ebc469f0b9645ff8461994ed9dba05b
    157 N21f2064651024ca387eb31cb62d129c9 rdf:first sg:person.01250467353.52
    158 rdf:rest Nd0350b0d121c4891958680a6ebd2b91d
    159 N26daa1403dc746cc8c5f5e6102478247 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    160 schema:name Male
    161 rdf:type schema:DefinedTerm
    162 N2da76bf7c0f44fb8950eed1f8502fddc rdf:first sg:person.012773552702.69
    163 rdf:rest Ncda3a030c03c466d8fdacd980b1927d9
    164 N38552ab16efc4cc099b57dfbd5404883 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name DNA Copy Number Variations
    166 rdf:type schema:DefinedTerm
    167 N38553e65c26b4ba381462978c1f6232d schema:name Springer Nature - SN SciGraph project
    168 rdf:type schema:Organization
    169 N45381a69261d4826b8b0400c601d4614 rdf:first sg:person.0731074614.93
    170 rdf:rest Na2e28f3879f0444298c087d82661aa9f
    171 N4611c1ded22341d1b6aac192626ddcc8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    172 schema:name Adolescent
    173 rdf:type schema:DefinedTerm
    174 N4dbd97546f9642acaf1a108b6804f150 rdf:first sg:person.01020012353.47
    175 rdf:rest N8aa28fa1d37043638bbfe754f58cd302
    176 N53093cfe00e4428f8565e9d3eba387ef schema:name dimensions_id
    177 schema:value pub.1086274042
    178 rdf:type schema:PropertyValue
    179 N5c82c706bd67403d972f68806d19db72 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    180 schema:name Humans
    181 rdf:type schema:DefinedTerm
    182 N607ad9caf60b4cd8acd1e4fa82a82491 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name Asian Continental Ancestry Group
    184 rdf:type schema:DefinedTerm
    185 N7aebfd5674cc4868b791760a92399db2 rdf:first N0c2b9c1594a94d5c91b597e1cb01d971
    186 rdf:rest N0ae47bd34e0648ffbcd3621e102bbd25
    187 N7ebc469f0b9645ff8461994ed9dba05b rdf:first sg:person.0656054276.40
    188 rdf:rest N21f2064651024ca387eb31cb62d129c9
    189 N81269442151947a6b0e3a2b23c76e161 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Infant
    191 rdf:type schema:DefinedTerm
    192 N865206f08f7f43ec839ea4372a7f872b schema:name doi
    193 schema:value 10.1186/s13229-017-0136-x
    194 rdf:type schema:PropertyValue
    195 N87cf8560acf44fe0a6906ed75256358d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    196 schema:name Chromosomes, Human
    197 rdf:type schema:DefinedTerm
    198 N8aa28fa1d37043638bbfe754f58cd302 rdf:first sg:person.015515161657.16
    199 rdf:rest rdf:nil
    200 N8c9cd33d30804ddebf2d91d5a8012300 rdf:first sg:person.01136041631.98
    201 rdf:rest Nb50b02fb42e74405909dd604fde926d3
    202 N8f46761da334440bb840b79833ab26b0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Child, Preschool
    204 rdf:type schema:DefinedTerm
    205 Na14548528c6b4d54a9e11fca936167b0 rdf:first sg:person.011066475117.55
    206 rdf:rest N4dbd97546f9642acaf1a108b6804f150
    207 Na2e28f3879f0444298c087d82661aa9f rdf:first sg:person.01102614232.72
    208 rdf:rest Nac4b22b4ea1b4a1ab7d67bf93d10c245
    209 Nac4b22b4ea1b4a1ab7d67bf93d10c245 rdf:first sg:person.01136112471.94
    210 rdf:rest N2da76bf7c0f44fb8950eed1f8502fddc
    211 Nb116addfac73489f812ab05a8862f998 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    212 schema:name Autism Spectrum Disorder
    213 rdf:type schema:DefinedTerm
    214 Nb50b02fb42e74405909dd604fde926d3 rdf:first sg:person.013241001572.15
    215 rdf:rest N45381a69261d4826b8b0400c601d4614
    216 Nbbbc8e4f822b41e28c93ce68c5d26789 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    217 schema:name Adult
    218 rdf:type schema:DefinedTerm
    219 Nbdd23bb583bd4571adf66845d7d4df98 schema:name pubmed_id
    220 schema:value 28670437
    221 rdf:type schema:PropertyValue
    222 Nc638e66942ca4cdbb39dd27a51bd504d rdf:first sg:person.0712203105.36
    223 rdf:rest N1be368d24c3143c596d67ac3c22aa70d
    224 Ncb43744962c44efd81a2d065177e8217 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    225 schema:name China
    226 rdf:type schema:DefinedTerm
    227 Ncda3a030c03c466d8fdacd980b1927d9 rdf:first sg:person.011034213512.08
    228 rdf:rest N7aebfd5674cc4868b791760a92399db2
    229 Nd0350b0d121c4891958680a6ebd2b91d rdf:first sg:person.014760624112.89
    230 rdf:rest Na14548528c6b4d54a9e11fca936167b0
    231 Nd5b50b5eaf6643a598a101557fd5c73e schema:issueNumber 1
    232 rdf:type schema:PublicationIssue
    233 Nd6e941f691164549a3e097934cffaa13 schema:affiliation grid-institutes:grid.194645.b
    234 schema:familyName So
    235 schema:givenName Kin Wai
    236 rdf:type schema:Person
    237 Ne78ad441bc5a4583be183fe3d35ff765 schema:volumeNumber 8
    238 rdf:type schema:PublicationVolume
    239 Nea9474baf47148a5a0933a62af1af140 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    240 schema:name Child
    241 rdf:type schema:DefinedTerm
    242 Nef9415aa92d8464dbab1d37658e216f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    243 schema:name Female
    244 rdf:type schema:DefinedTerm
    245 Nfd04d265b5f74af1bb64d246f9e82bb7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    246 schema:name Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
    247 rdf:type schema:DefinedTerm
    248 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    249 schema:name Medical and Health Sciences
    250 rdf:type schema:DefinedTerm
    251 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
    252 schema:name Clinical Sciences
    253 rdf:type schema:DefinedTerm
    254 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
    255 schema:name Neurosciences
    256 rdf:type schema:DefinedTerm
    257 sg:journal.1043709 schema:issn 2040-2392
    258 schema:name Molecular Autism
    259 schema:publisher Springer Nature
    260 rdf:type schema:Periodical
    261 sg:person.01016270214.55 schema:affiliation grid-institutes:grid.414186.e
    262 schema:familyName Wong
    263 schema:givenName Virginia Chun Nei
    264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016270214.55
    265 rdf:type schema:Person
    266 sg:person.01020012353.47 schema:affiliation grid-institutes:grid.460837.e
    267 schema:familyName Kan
    268 schema:givenName Anita Sik Yau
    269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020012353.47
    270 rdf:type schema:Person
    271 sg:person.01053307670.00 schema:affiliation grid-institutes:grid.194645.b
    272 schema:familyName Tao
    273 schema:givenName Victoria Qinchen
    274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053307670.00
    275 rdf:type schema:Person
    276 sg:person.010757706061.24 schema:affiliation grid-institutes:grid.415499.4
    277 schema:familyName Mak
    278 schema:givenName Annisa Shui Lam
    279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010757706061.24
    280 rdf:type schema:Person
    281 sg:person.01102614232.72 schema:affiliation grid-institutes:grid.194645.b
    282 schema:familyName Mok
    283 schema:givenName Gary Tsz Kin
    284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102614232.72
    285 rdf:type schema:Person
    286 sg:person.011034213512.08 schema:affiliation grid-institutes:grid.194645.b
    287 schema:familyName Tang
    288 schema:givenName Mary Hoi Yin
    289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011034213512.08
    290 rdf:type schema:Person
    291 sg:person.011066475117.55 schema:affiliation grid-institutes:grid.17063.33
    292 schema:familyName Scherer
    293 schema:givenName Stephen W.
    294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011066475117.55
    295 rdf:type schema:Person
    296 sg:person.01136041631.98 schema:affiliation grid-institutes:grid.194645.b
    297 schema:familyName Leung
    298 schema:givenName Gordon Ka Chun
    299 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136041631.98
    300 rdf:type schema:Person
    301 sg:person.01136112471.94 schema:affiliation grid-institutes:grid.194645.b
    302 schema:familyName Tang
    303 schema:givenName Fai
    304 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136112471.94
    305 rdf:type schema:Person
    306 sg:person.01250467353.52 schema:affiliation grid-institutes:grid.414186.e
    307 schema:familyName Lee
    308 schema:givenName So Lun
    309 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250467353.52
    310 rdf:type schema:Person
    311 sg:person.012773552702.69 schema:affiliation grid-institutes:grid.460837.e
    312 schema:familyName Chan
    313 schema:givenName Kelvin Yuen Kwong
    314 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012773552702.69
    315 rdf:type schema:Person
    316 sg:person.013241001572.15 schema:affiliation grid-institutes:grid.194645.b
    317 schema:familyName Mak
    318 schema:givenName Christopher Chun Yu
    319 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013241001572.15
    320 rdf:type schema:Person
    321 sg:person.014634211301.44 schema:affiliation grid-institutes:grid.194645.b
    322 schema:familyName Chiu
    323 schema:givenName Annie Ting Gee
    324 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014634211301.44
    325 rdf:type schema:Person
    326 sg:person.014760624112.89 schema:affiliation grid-institutes:grid.42327.30
    327 schema:familyName Marshall
    328 schema:givenName Christian R.
    329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014760624112.89
    330 rdf:type schema:Person
    331 sg:person.015515161657.16 schema:affiliation grid-institutes:grid.414186.e
    332 schema:familyName Chung
    333 schema:givenName Brian Hon Yin
    334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015515161657.16
    335 rdf:type schema:Person
    336 sg:person.0656054276.40 schema:affiliation grid-institutes:grid.42327.30
    337 schema:familyName Uddin
    338 schema:givenName Mohammed
    339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656054276.40
    340 rdf:type schema:Person
    341 sg:person.0712203105.36 schema:affiliation grid-institutes:grid.414186.e
    342 schema:familyName Fung
    343 schema:givenName Cheuk Wing
    344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712203105.36
    345 rdf:type schema:Person
    346 sg:person.0731074614.93 schema:affiliation grid-institutes:grid.194645.b
    347 schema:familyName Chu
    348 schema:givenName Yoyo Wing Yiu
    349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731074614.93
    350 rdf:type schema:Person
    351 sg:pub.10.1007/s00787-007-0601-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026145014
    352 https://doi.org/10.1007/s00787-007-0601-8
    353 rdf:type schema:CreativeWork
    354 sg:pub.10.1038/ejhg.2010.184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043066961
    355 https://doi.org/10.1038/ejhg.2010.184
    356 rdf:type schema:CreativeWork
    357 sg:pub.10.1038/gim.2013.129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027147840
    358 https://doi.org/10.1038/gim.2013.129
    359 rdf:type schema:CreativeWork
    360 sg:pub.10.1038/gim.2013.32 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009144056
    361 https://doi.org/10.1038/gim.2013.32
    362 rdf:type schema:CreativeWork
    363 sg:pub.10.1038/gim.2014.178 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030319699
    364 https://doi.org/10.1038/gim.2014.178
    365 rdf:type schema:CreativeWork
    366 sg:pub.10.1038/jhg.2011.42 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044973069
    367 https://doi.org/10.1038/jhg.2011.42
    368 rdf:type schema:CreativeWork
    369 sg:pub.10.1038/mp.2009.34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028933507
    370 https://doi.org/10.1038/mp.2009.34
    371 rdf:type schema:CreativeWork
    372 sg:pub.10.1038/mp.2012.161 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008963811
    373 https://doi.org/10.1038/mp.2012.161
    374 rdf:type schema:CreativeWork
    375 sg:pub.10.1038/nature05329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052925490
    376 https://doi.org/10.1038/nature05329
    377 rdf:type schema:CreativeWork
    378 sg:pub.10.1038/nature07953 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039148964
    379 https://doi.org/10.1038/nature07953
    380 rdf:type schema:CreativeWork
    381 sg:pub.10.1038/nature12818 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043154470
    382 https://doi.org/10.1038/nature12818
    383 rdf:type schema:CreativeWork
    384 sg:pub.10.1038/ng.162 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021776763
    385 https://doi.org/10.1038/ng.162
    386 rdf:type schema:CreativeWork
    387 sg:pub.10.1038/ng.555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006886726
    388 https://doi.org/10.1038/ng.555
    389 rdf:type schema:CreativeWork
    390 sg:pub.10.1038/ng.909 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020398051
    391 https://doi.org/10.1038/ng.909
    392 rdf:type schema:CreativeWork
    393 sg:pub.10.1038/nm.3792 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034659032
    394 https://doi.org/10.1038/nm.3792
    395 rdf:type schema:CreativeWork
    396 sg:pub.10.1097/gim.0b013e3182217a3a schema:sameAs https://app.dimensions.ai/details/publication/pub.1009028405
    397 https://doi.org/10.1097/gim.0b013e3182217a3a
    398 rdf:type schema:CreativeWork
    399 sg:pub.10.1186/1866-1955-6-34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035214646
    400 https://doi.org/10.1186/1866-1955-6-34
    401 rdf:type schema:CreativeWork
    402 sg:pub.10.1186/s13229-016-0087-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010137534
    403 https://doi.org/10.1186/s13229-016-0087-7
    404 rdf:type schema:CreativeWork
    405 sg:pub.10.1631/jzus.b1300133 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011465352
    406 https://doi.org/10.1631/jzus.b1300133
    407 rdf:type schema:CreativeWork
    408 grid-institutes:grid.17063.33 schema:alternateName McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada
    409 schema:name McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada
    410 The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
    411 rdf:type schema:Organization
    412 grid-institutes:grid.194645.b schema:alternateName Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    413 Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    414 schema:name Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    415 Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    416 rdf:type schema:Organization
    417 grid-institutes:grid.414186.e schema:alternateName Duchess of Kent Children’s Hospital, Hong Kong, Special Administrative Region, China
    418 schema:name Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    419 Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China
    420 Duchess of Kent Children’s Hospital, Hong Kong, Special Administrative Region, China
    421 rdf:type schema:Organization
    422 grid-institutes:grid.415499.4 schema:alternateName Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China
    423 schema:name Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China
    424 rdf:type schema:Organization
    425 grid-institutes:grid.42327.30 schema:alternateName The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
    426 schema:name The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada
    427 rdf:type schema:Organization
    428 grid-institutes:grid.460837.e schema:alternateName Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China
    429 schema:name Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China
    430 rdf:type schema:Organization
     




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


    ...