Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-04

AUTHORS

Yoshimi Inaba, Amy S. Herlihy, Charles E. Schwartz, Cindy Skinner, Quang M. Bui, Joanna Cobb, Elva Z. Shi, David Francis, Alison Arvaj, David J. Amor, Kate Pope, Tiffany Wotton, Jonathan Cohen, Jacqueline K. Hewitt, Randi J. Hagerman, Sylvia A. Metcalfe, John L. Hopper, Danuta Z. Loesch, Howard R. Slater, David E. Godler

ABSTRACT

PURPOSE: We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening. METHODS: Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG <40), 187 premutation (CGG 56-170), and 242 full-mutation (CGG ~200-2,000) males and females, 106 sex chromosome aneuploidy individuals, and 151 cytogenetically normal controls. RESULTS: At the 0.435 threshold, fragile X-related epigenetic element 2 analysis in males was robust on both blood DNA and newborn blood spots, with specificity and sensitivity of ~100% for full-mutation genotype. In females, the specificity was 99%, whereas half of full-mutation females were above the 0.435 threshold in both blood DNA and newborn blood spots. Furthermore, at this threshold, the test could not differentiate individuals with Klinefelter syndrome from female controls without using the SRY marker. When combined with SRY analysis, the test was consistent with most results for sex chromosome aneuploidies from karyotyping. CONCLUSION: Setting specific thresholds for fragile X-related epigenetic element 2 analysis and including the SRY marker provides the option to either include or exclude detection of sex chromosome aneuploidies as part of fragile X syndrome newborn screening. More... »

PAGES

290

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.134

DOI

http://dx.doi.org/10.1038/gim.2012.134

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020184931

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23060046


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aneuploidy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Line", 
        "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": "CpG Islands", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Methylation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fragile X Mental Retardation Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fragile X Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Dosage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, sry", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "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": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Introns", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neonatal Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Reproducibility of Results", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sensitivity and Specificity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sex Chromosome Aberrations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Trinucleotide Repeat Expansion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Inaba", 
        "givenName": "Yoshimi", 
        "id": "sg:person.01333632264.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333632264.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Andrology Australia, Clayton, South Australia, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Herlihy", 
        "givenName": "Amy S.", 
        "id": "sg:person.01371423467.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01371423467.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schwartz", 
        "givenName": "Charles E.", 
        "id": "sg:person.01363263366.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363263366.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Skinner", 
        "givenName": "Cindy", 
        "id": "sg:person.0614102667.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614102667.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bui", 
        "givenName": "Quang M.", 
        "id": "sg:person.010635777054.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010635777054.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Department of Physiology, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cobb", 
        "givenName": "Joanna", 
        "id": "sg:person.01202723621.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202723621.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shi", 
        "givenName": "Elva Z.", 
        "id": "sg:person.0610226164.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610226164.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Francis", 
        "givenName": "David", 
        "id": "sg:person.01077432047.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077432047.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arvaj", 
        "givenName": "Alison", 
        "id": "sg:person.014273526150.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014273526150.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Amor", 
        "givenName": "David J.", 
        "id": "sg:person.011062752524.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011062752524.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pope", 
        "givenName": "Kate", 
        "id": "sg:person.01123423700.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123423700.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "New South Wales Newborn Screening Program, Children\u2019s Hospital at Westmead, Sydney, New South Wales, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wotton", 
        "givenName": "Tiffany", 
        "id": "sg:person.01241013752.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241013752.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Monash University", 
          "id": "https://www.grid.ac/institutes/grid.1002.3", 
          "name": [
            "Fragile X Alliance Inc, and Centre for Developmental Disability Health Victoria, Monash University, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cohen", 
        "givenName": "Jonathan", 
        "id": "sg:person.01077763676.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077763676.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hewitt", 
        "givenName": "Jacqueline K.", 
        "id": "sg:person.01012334675.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012334675.02"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California, Davis", 
          "id": "https://www.grid.ac/institutes/grid.27860.3b", 
          "name": [
            "The MIND Institute, University of California, Davis Medical Center, Sacramento, California, USA", 
            "Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hagerman", 
        "givenName": "Randi J.", 
        "id": "sg:person.010615103637.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010615103637.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Metcalfe", 
        "givenName": "Sylvia A.", 
        "id": "sg:person.01133254045.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133254045.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hopper", 
        "givenName": "John L.", 
        "id": "sg:person.0616256460.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616256460.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "La Trobe University", 
          "id": "https://www.grid.ac/institutes/grid.1018.8", 
          "name": [
            "School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Loesch", 
        "givenName": "Danuta Z.", 
        "id": "sg:person.0604502747.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604502747.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Slater", 
        "givenName": "Howard R.", 
        "id": "sg:person.0621521200.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621521200.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children\u2019s Hospital, Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Godler", 
        "givenName": "David E.", 
        "id": "sg:person.01054265522.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054265522.38"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1677/jme.0.0290023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001475339"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2353/jmoldx.2008.070073", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002261983"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2009.09.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002573675"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/gyno.1994.1323", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003611289"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2009.1758", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005969348"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182136d19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006952331", 
          "https://doi.org/10.1097/gim.0b013e3182136d19"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182136d19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006952331", 
          "https://doi.org/10.1097/gim.0b013e3182136d19"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182136d19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006952331", 
          "https://doi.org/10.1097/gim.0b013e3182136d19"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.10427", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014761896"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1651-2227.2011.02252.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016530196"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301800", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018747728"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000084773", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021293941"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000084773", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021293941"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2011-0096", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024673689"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182064362", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026121253", 
          "https://doi.org/10.1097/gim.0b013e3182064362"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3182064362", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026121253", 
          "https://doi.org/10.1097/gim.0b013e3182064362"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-5-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026522555", 
          "https://doi.org/10.1186/1750-1172-5-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jmoldx.2011.05.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027316392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199112123252401", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027510175"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/321974", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029881959"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181e5c804", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031450859", 
          "https://doi.org/10.1097/gim.0b013e3181e5c804"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181e5c804", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031450859", 
          "https://doi.org/10.1097/gim.0b013e3181e5c804"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(91)90125-i", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031781612"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1373/clinchem.2011.177626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032883608"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<248::aid-ajmg3>3.0.co;2-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037924309"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2009.03545.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037945439"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2009.03545.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037945439"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000087313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040889803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000087313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040889803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1326-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041117345", 
          "https://doi.org/10.1007/s00439-005-1326-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1326-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041117345", 
          "https://doi.org/10.1007/s00439-005-1326-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1326-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041117345", 
          "https://doi.org/10.1007/s00439-005-1326-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-005-1326-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041117345", 
          "https://doi.org/10.1007/s00439-005-1326-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddq037", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041927370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-1-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043631294", 
          "https://doi.org/10.1186/1755-8166-1-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(91)90283-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044506370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f07088", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044992635", 
          "https://doi.org/10.1097/gim.0b013e3181f07088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/gim.0b013e3181f07088", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044992635", 
          "https://doi.org/10.1097/gim.0b013e3181f07088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/nlme.1999.3914", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045477488"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2009.01275.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049511340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2009.01275.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049511340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(91)90397-h", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050395340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.2009.179747", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053212360"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/scitranslmed.3001708", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062686872"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2002-021491", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064286417"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2011-0346", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064292727"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.54.12.2218", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064378220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2008-0317", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067826913"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078234171", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471695998.mgs022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090063315"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471695998.mgs022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090063315"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471695998.mgs022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090063315"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-04", 
    "datePublishedReg": "2013-04-01", 
    "description": "PURPOSE: We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening.\nMETHODS: Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG <40), 187 premutation (CGG 56-170), and 242 full-mutation (CGG ~200-2,000) males and females, 106 sex chromosome aneuploidy individuals, and 151 cytogenetically normal controls.\nRESULTS: At the 0.435 threshold, fragile X-related epigenetic element 2 analysis in males was robust on both blood DNA and newborn blood spots, with specificity and sensitivity of ~100% for full-mutation genotype. In females, the specificity was 99%, whereas half of full-mutation females were above the 0.435 threshold in both blood DNA and newborn blood spots. Furthermore, at this threshold, the test could not differentiate individuals with Klinefelter syndrome from female controls without using the SRY marker. When combined with SRY analysis, the test was consistent with most results for sex chromosome aneuploidies from karyotyping.\nCONCLUSION: Setting specific thresholds for fragile X-related epigenetic element 2 analysis and including the SRY marker provides the option to either include or exclude detection of sex chromosome aneuploidies as part of fragile X syndrome newborn screening.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/gim.2012.134", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6734223", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2525713", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "15"
      }
    ], 
    "name": "Fragile X\u2013related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study", 
    "pagination": "290", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "602c84f1eba7a46059efa4b2aa67f03675860e79faacbc03daa848ba2ee3c8ac"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23060046"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/gim.2012.134"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1020184931"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/gim.2012.134", 
      "https://app.dimensions.ai/details/publication/pub.1020184931"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:58", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8678_00000436.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/gim2012134"
  }
]
 

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/gim.2012.134'

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/gim.2012.134'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.134'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/gim.2012.134'


 

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

461 TRIPLES      21 PREDICATES      95 URIs      49 LITERALS      37 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/gim.2012.134 schema:about N1811b09c8c544d4180a978935ae0ec43
2 N19983e14e39a4dd09959acf2cbf729a0
3 N21037b16940a458bae881973cf472d20
4 N248074fda5a548aabf359bd3c667cf2b
5 N2956d6a68a9e454cab110a433f41357c
6 N2c2df4c04a714ca5b4ae45473e3f9363
7 N33cd74ca4f7e40bc869648c80f6afdd9
8 N38d980f8829f4fca8ce92f79f33fd402
9 N4cdae1b2c9de418e829ff656a252df27
10 N536a1932ea1844d2b7e7f080d9f5267c
11 N58de67a9eaa34b6c819d954d8f89bca2
12 N64586a89d1f14319b8612006648e4779
13 N6e27556d341d4def8521080a9602e8c8
14 N739d143093db4e7faf62d821adbad5cc
15 N7dd8fede1be44dd282d41ed46fa7a452
16 N82b76af145b14958a27b85af5e98aa9f
17 N93241e05d8d7406581c0ad321ee94804
18 N95d45846b4874dc6a057be20854cacc8
19 Nb3820b21e7774cf59aebc193a6cf6162
20 Nb645510dd6454fa6bf8570289c4acc3b
21 Nb887d34b238943cbaa84b8ef9a1987c0
22 Nba867e5fd5dd4a60a6e4ac1486986666
23 Nc6a026b59d3f4abfab621307ba595c51
24 Ncb9e8385cbd84ad8868fabe3e9bd278d
25 Ne743d982891f479cbf6a92f29b1d81a2
26 Nefc93f166c704fe59011e2dadf42e69f
27 Nf7dd3e208d514a3faca52006a40707ab
28 Nfa22aeb1170d48e48be60189538ed95e
29 anzsrc-for:06
30 anzsrc-for:0604
31 schema:author N475d82e5b65f4ca4baaf937d1991a65e
32 schema:citation sg:pub.10.1007/s00439-005-1326-8
33 sg:pub.10.1097/gim.0b013e3181e5c804
34 sg:pub.10.1097/gim.0b013e3181f07088
35 sg:pub.10.1097/gim.0b013e3182064362
36 sg:pub.10.1097/gim.0b013e3182136d19
37 sg:pub.10.1186/1750-1172-5-8
38 sg:pub.10.1186/1755-8166-1-5
39 https://app.dimensions.ai/details/publication/pub.1078234171
40 https://doi.org/10.1001/jama.2009.1758
41 https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<248::aid-ajmg3>3.0.co;2-1
42 https://doi.org/10.1002/0471695998.mgs022
43 https://doi.org/10.1002/ajmg.10427
44 https://doi.org/10.1006/gyno.1994.1323
45 https://doi.org/10.1006/nlme.1999.3914
46 https://doi.org/10.1016/0092-8674(91)90125-i
47 https://doi.org/10.1016/0092-8674(91)90283-5
48 https://doi.org/10.1016/0092-8674(91)90397-h
49 https://doi.org/10.1016/j.ajhg.2009.09.007
50 https://doi.org/10.1016/j.jmoldx.2011.05.006
51 https://doi.org/10.1056/nejm199112123252401
52 https://doi.org/10.1086/301800
53 https://doi.org/10.1086/321974
54 https://doi.org/10.1093/hmg/ddq037
55 https://doi.org/10.1111/j.1399-0004.2009.01275.x
56 https://doi.org/10.1111/j.1469-8749.2009.03545.x
57 https://doi.org/10.1111/j.1651-2227.2011.02252.x
58 https://doi.org/10.1126/scitranslmed.3001708
59 https://doi.org/10.1136/adc.2009.179747
60 https://doi.org/10.1159/000084773
61 https://doi.org/10.1159/000087313
62 https://doi.org/10.1210/jc.2002-021491
63 https://doi.org/10.1210/jc.2011-0346
64 https://doi.org/10.1212/wnl.54.12.2218
65 https://doi.org/10.1373/clinchem.2011.177626
66 https://doi.org/10.1542/peds.2008-0317
67 https://doi.org/10.1542/peds.2011-0096
68 https://doi.org/10.1677/jme.0.0290023
69 https://doi.org/10.2353/jmoldx.2008.070073
70 schema:datePublished 2013-04
71 schema:datePublishedReg 2013-04-01
72 schema:description PURPOSE: We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening. METHODS: Fragile X-related epigenetic element 2, SRY, and FMR1 CGG repeat analyses were performed on blood and saliva DNA, and in adult and newborn blood spots. The cohort consisted of 159 controls (CGG <40), 187 premutation (CGG 56-170), and 242 full-mutation (CGG ~200-2,000) males and females, 106 sex chromosome aneuploidy individuals, and 151 cytogenetically normal controls. RESULTS: At the 0.435 threshold, fragile X-related epigenetic element 2 analysis in males was robust on both blood DNA and newborn blood spots, with specificity and sensitivity of ~100% for full-mutation genotype. In females, the specificity was 99%, whereas half of full-mutation females were above the 0.435 threshold in both blood DNA and newborn blood spots. Furthermore, at this threshold, the test could not differentiate individuals with Klinefelter syndrome from female controls without using the SRY marker. When combined with SRY analysis, the test was consistent with most results for sex chromosome aneuploidies from karyotyping. CONCLUSION: Setting specific thresholds for fragile X-related epigenetic element 2 analysis and including the SRY marker provides the option to either include or exclude detection of sex chromosome aneuploidies as part of fragile X syndrome newborn screening.
73 schema:genre research_article
74 schema:inLanguage en
75 schema:isAccessibleForFree true
76 schema:isPartOf Nb7f71abbd864437ea4dee343cdf8a319
77 Nd126ddb1c38c482b907ed048083e50ed
78 sg:journal.1119411
79 schema:name Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
80 schema:pagination 290
81 schema:productId N16dd8789dcee4a8781bbc1a1c2ec8aba
82 N223dc7fb260048d9b4f4ad788782fab5
83 N57ae065d7132402882aacae10eb3c225
84 Nd5ecf58d802743c0929a321e75a361ef
85 Ndd35942e32f446c78afba18187f2c7fd
86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020184931
87 https://doi.org/10.1038/gim.2012.134
88 schema:sdDatePublished 2019-04-10T18:58
89 schema:sdLicense https://scigraph.springernature.com/explorer/license/
90 schema:sdPublisher Nf24416fa8af8495eb29d214d9de6c918
91 schema:url https://www.nature.com/articles/gim2012134
92 sgo:license sg:explorer/license/
93 sgo:sdDataset articles
94 rdf:type schema:ScholarlyArticle
95 N16dd8789dcee4a8781bbc1a1c2ec8aba schema:name nlm_unique_id
96 schema:value 9815831
97 rdf:type schema:PropertyValue
98 N1811b09c8c544d4180a978935ae0ec43 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Middle Aged
100 rdf:type schema:DefinedTerm
101 N19983e14e39a4dd09959acf2cbf729a0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Adult
103 rdf:type schema:DefinedTerm
104 N21037b16940a458bae881973cf472d20 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Introns
106 rdf:type schema:DefinedTerm
107 N223dc7fb260048d9b4f4ad788782fab5 schema:name pubmed_id
108 schema:value 23060046
109 rdf:type schema:PropertyValue
110 N248074fda5a548aabf359bd3c667cf2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Alleles
112 rdf:type schema:DefinedTerm
113 N27b8d86fc0a3401fb53b9339d631e3a5 rdf:first sg:person.0604502747.87
114 rdf:rest N6a7f574f73e54580b1e4631478e93241
115 N2956d6a68a9e454cab110a433f41357c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Genes, sry
117 rdf:type schema:DefinedTerm
118 N2c2df4c04a714ca5b4ae45473e3f9363 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name CpG Islands
120 rdf:type schema:DefinedTerm
121 N33cd74ca4f7e40bc869648c80f6afdd9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Child
123 rdf:type schema:DefinedTerm
124 N38d980f8829f4fca8ce92f79f33fd402 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Sex Chromosome Aberrations
126 rdf:type schema:DefinedTerm
127 N3cd6f4ae259d4efb855b90ed588b798d rdf:first sg:person.0616256460.84
128 rdf:rest N27b8d86fc0a3401fb53b9339d631e3a5
129 N475d82e5b65f4ca4baaf937d1991a65e rdf:first sg:person.01333632264.28
130 rdf:rest Nef55ea6f2ad34795b8d69157fe5b05af
131 N4848d768d61d40b89ebdd3ea23984358 rdf:first sg:person.01077763676.06
132 rdf:rest Nac24172c8a894572af8fc7cdb198a167
133 N4caeaa4a3afe474b8c7c0fcdc1b3c38d rdf:first sg:person.01133254045.05
134 rdf:rest N3cd6f4ae259d4efb855b90ed588b798d
135 N4cdae1b2c9de418e829ff656a252df27 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Fragile X Mental Retardation Protein
137 rdf:type schema:DefinedTerm
138 N4fa0eb4c929a49cf90c830580a0972f4 rdf:first sg:person.010635777054.06
139 rdf:rest Ne4f6a6affe704ec4be64343924a65790
140 N536a1932ea1844d2b7e7f080d9f5267c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Neonatal Screening
142 rdf:type schema:DefinedTerm
143 N57ae065d7132402882aacae10eb3c225 schema:name doi
144 schema:value 10.1038/gim.2012.134
145 rdf:type schema:PropertyValue
146 N58de67a9eaa34b6c819d954d8f89bca2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name DNA Methylation
148 rdf:type schema:DefinedTerm
149 N595f4daf33e44964806611a742ad7bf3 rdf:first sg:person.0610226164.92
150 rdf:rest N5cef7d4853374d91abc492cfe6395648
151 N5cef7d4853374d91abc492cfe6395648 rdf:first sg:person.01077432047.13
152 rdf:rest N9aa39917c2904e55b390e39d08e30d2c
153 N64586a89d1f14319b8612006648e4779 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Humans
155 rdf:type schema:DefinedTerm
156 N6a7f574f73e54580b1e4631478e93241 rdf:first sg:person.0621521200.26
157 rdf:rest Ne523ca5ff1764133944a3e8fae2df28c
158 N6e27556d341d4def8521080a9602e8c8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Aneuploidy
160 rdf:type schema:DefinedTerm
161 N739d143093db4e7faf62d821adbad5cc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Young Adult
163 rdf:type schema:DefinedTerm
164 N7dd8fede1be44dd282d41ed46fa7a452 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Cell Line
166 rdf:type schema:DefinedTerm
167 N7fa52d4ff821408a8c70c4792941de20 rdf:first sg:person.01363263366.49
168 rdf:rest Ncfd2f5cc11bb4236892acd12424b774f
169 N82b76af145b14958a27b85af5e98aa9f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Fragile X Syndrome
171 rdf:type schema:DefinedTerm
172 N8d6c6ccacce048858a09490b5871cd44 rdf:first sg:person.010615103637.55
173 rdf:rest N4caeaa4a3afe474b8c7c0fcdc1b3c38d
174 N93241e05d8d7406581c0ad321ee94804 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Adolescent
176 rdf:type schema:DefinedTerm
177 N95d45846b4874dc6a057be20854cacc8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Female
179 rdf:type schema:DefinedTerm
180 N97eb0f70fad249a6a34044284aac1b77 rdf:first sg:person.01241013752.13
181 rdf:rest N4848d768d61d40b89ebdd3ea23984358
182 N9aa39917c2904e55b390e39d08e30d2c rdf:first sg:person.014273526150.05
183 rdf:rest Ncb40568bf8a943668b0e44e7c9422ce1
184 Nac24172c8a894572af8fc7cdb198a167 rdf:first sg:person.01012334675.02
185 rdf:rest N8d6c6ccacce048858a09490b5871cd44
186 Nb3820b21e7774cf59aebc193a6cf6162 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
187 schema:name Child, Preschool
188 rdf:type schema:DefinedTerm
189 Nb645510dd6454fa6bf8570289c4acc3b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
190 schema:name Genetic Testing
191 rdf:type schema:DefinedTerm
192 Nb7f71abbd864437ea4dee343cdf8a319 schema:issueNumber 4
193 rdf:type schema:PublicationIssue
194 Nb887d34b238943cbaa84b8ef9a1987c0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Gene Dosage
196 rdf:type schema:DefinedTerm
197 Nba867e5fd5dd4a60a6e4ac1486986666 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
198 schema:name Reproducibility of Results
199 rdf:type schema:DefinedTerm
200 Nc6a026b59d3f4abfab621307ba595c51 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
201 schema:name Infant
202 rdf:type schema:DefinedTerm
203 Ncb40568bf8a943668b0e44e7c9422ce1 rdf:first sg:person.011062752524.91
204 rdf:rest Nf86e7c5cc97c4073bf8639b49feb7098
205 Ncb9e8385cbd84ad8868fabe3e9bd278d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
206 schema:name Trinucleotide Repeat Expansion
207 rdf:type schema:DefinedTerm
208 Ncfd2f5cc11bb4236892acd12424b774f rdf:first sg:person.0614102667.15
209 rdf:rest N4fa0eb4c929a49cf90c830580a0972f4
210 Nd126ddb1c38c482b907ed048083e50ed schema:volumeNumber 15
211 rdf:type schema:PublicationVolume
212 Nd5ecf58d802743c0929a321e75a361ef schema:name readcube_id
213 schema:value 602c84f1eba7a46059efa4b2aa67f03675860e79faacbc03daa848ba2ee3c8ac
214 rdf:type schema:PropertyValue
215 Ndd35942e32f446c78afba18187f2c7fd schema:name dimensions_id
216 schema:value pub.1020184931
217 rdf:type schema:PropertyValue
218 Ne4f6a6affe704ec4be64343924a65790 rdf:first sg:person.01202723621.24
219 rdf:rest N595f4daf33e44964806611a742ad7bf3
220 Ne523ca5ff1764133944a3e8fae2df28c rdf:first sg:person.01054265522.38
221 rdf:rest rdf:nil
222 Ne743d982891f479cbf6a92f29b1d81a2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
223 schema:name Male
224 rdf:type schema:DefinedTerm
225 Nef55ea6f2ad34795b8d69157fe5b05af rdf:first sg:person.01371423467.36
226 rdf:rest N7fa52d4ff821408a8c70c4792941de20
227 Nefc93f166c704fe59011e2dadf42e69f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
228 schema:name Aged
229 rdf:type schema:DefinedTerm
230 Nf24416fa8af8495eb29d214d9de6c918 schema:name Springer Nature - SN SciGraph project
231 rdf:type schema:Organization
232 Nf7dd3e208d514a3faca52006a40707ab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
233 schema:name Infant, Newborn
234 rdf:type schema:DefinedTerm
235 Nf86e7c5cc97c4073bf8639b49feb7098 rdf:first sg:person.01123423700.12
236 rdf:rest N97eb0f70fad249a6a34044284aac1b77
237 Nfa22aeb1170d48e48be60189538ed95e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
238 schema:name Sensitivity and Specificity
239 rdf:type schema:DefinedTerm
240 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
241 schema:name Biological Sciences
242 rdf:type schema:DefinedTerm
243 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
244 schema:name Genetics
245 rdf:type schema:DefinedTerm
246 sg:grant.2525713 http://pending.schema.org/fundedItem sg:pub.10.1038/gim.2012.134
247 rdf:type schema:MonetaryGrant
248 sg:grant.6734223 http://pending.schema.org/fundedItem sg:pub.10.1038/gim.2012.134
249 rdf:type schema:MonetaryGrant
250 sg:journal.1119411 schema:issn 1098-3600
251 1530-0366
252 schema:name Genetics in Medicine
253 rdf:type schema:Periodical
254 sg:person.01012334675.02 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
255 schema:familyName Hewitt
256 schema:givenName Jacqueline K.
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012334675.02
258 rdf:type schema:Person
259 sg:person.01054265522.38 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
260 schema:familyName Godler
261 schema:givenName David E.
262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054265522.38
263 rdf:type schema:Person
264 sg:person.010615103637.55 schema:affiliation https://www.grid.ac/institutes/grid.27860.3b
265 schema:familyName Hagerman
266 schema:givenName Randi J.
267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010615103637.55
268 rdf:type schema:Person
269 sg:person.010635777054.06 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
270 schema:familyName Bui
271 schema:givenName Quang M.
272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010635777054.06
273 rdf:type schema:Person
274 sg:person.01077432047.13 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
275 schema:familyName Francis
276 schema:givenName David
277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077432047.13
278 rdf:type schema:Person
279 sg:person.01077763676.06 schema:affiliation https://www.grid.ac/institutes/grid.1002.3
280 schema:familyName Cohen
281 schema:givenName Jonathan
282 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077763676.06
283 rdf:type schema:Person
284 sg:person.011062752524.91 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
285 schema:familyName Amor
286 schema:givenName David J.
287 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011062752524.91
288 rdf:type schema:Person
289 sg:person.01123423700.12 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
290 schema:familyName Pope
291 schema:givenName Kate
292 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123423700.12
293 rdf:type schema:Person
294 sg:person.01133254045.05 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
295 schema:familyName Metcalfe
296 schema:givenName Sylvia A.
297 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133254045.05
298 rdf:type schema:Person
299 sg:person.01202723621.24 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
300 schema:familyName Cobb
301 schema:givenName Joanna
302 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202723621.24
303 rdf:type schema:Person
304 sg:person.01241013752.13 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
305 schema:familyName Wotton
306 schema:givenName Tiffany
307 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241013752.13
308 rdf:type schema:Person
309 sg:person.01333632264.28 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
310 schema:familyName Inaba
311 schema:givenName Yoshimi
312 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333632264.28
313 rdf:type schema:Person
314 sg:person.01363263366.49 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
315 schema:familyName Schwartz
316 schema:givenName Charles E.
317 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363263366.49
318 rdf:type schema:Person
319 sg:person.01371423467.36 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
320 schema:familyName Herlihy
321 schema:givenName Amy S.
322 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01371423467.36
323 rdf:type schema:Person
324 sg:person.014273526150.05 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
325 schema:familyName Arvaj
326 schema:givenName Alison
327 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014273526150.05
328 rdf:type schema:Person
329 sg:person.0604502747.87 schema:affiliation https://www.grid.ac/institutes/grid.1018.8
330 schema:familyName Loesch
331 schema:givenName Danuta Z.
332 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604502747.87
333 rdf:type schema:Person
334 sg:person.0610226164.92 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
335 schema:familyName Shi
336 schema:givenName Elva Z.
337 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610226164.92
338 rdf:type schema:Person
339 sg:person.0614102667.15 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
340 schema:familyName Skinner
341 schema:givenName Cindy
342 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614102667.15
343 rdf:type schema:Person
344 sg:person.0616256460.84 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
345 schema:familyName Hopper
346 schema:givenName John L.
347 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616256460.84
348 rdf:type schema:Person
349 sg:person.0621521200.26 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
350 schema:familyName Slater
351 schema:givenName Howard R.
352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0621521200.26
353 rdf:type schema:Person
354 sg:pub.10.1007/s00439-005-1326-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041117345
355 https://doi.org/10.1007/s00439-005-1326-8
356 rdf:type schema:CreativeWork
357 sg:pub.10.1097/gim.0b013e3181e5c804 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031450859
358 https://doi.org/10.1097/gim.0b013e3181e5c804
359 rdf:type schema:CreativeWork
360 sg:pub.10.1097/gim.0b013e3181f07088 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044992635
361 https://doi.org/10.1097/gim.0b013e3181f07088
362 rdf:type schema:CreativeWork
363 sg:pub.10.1097/gim.0b013e3182064362 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026121253
364 https://doi.org/10.1097/gim.0b013e3182064362
365 rdf:type schema:CreativeWork
366 sg:pub.10.1097/gim.0b013e3182136d19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006952331
367 https://doi.org/10.1097/gim.0b013e3182136d19
368 rdf:type schema:CreativeWork
369 sg:pub.10.1186/1750-1172-5-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026522555
370 https://doi.org/10.1186/1750-1172-5-8
371 rdf:type schema:CreativeWork
372 sg:pub.10.1186/1755-8166-1-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043631294
373 https://doi.org/10.1186/1755-8166-1-5
374 rdf:type schema:CreativeWork
375 https://app.dimensions.ai/details/publication/pub.1078234171 schema:CreativeWork
376 https://doi.org/10.1001/jama.2009.1758 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005969348
377 rdf:type schema:CreativeWork
378 https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<248::aid-ajmg3>3.0.co;2-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037924309
379 rdf:type schema:CreativeWork
380 https://doi.org/10.1002/0471695998.mgs022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090063315
381 rdf:type schema:CreativeWork
382 https://doi.org/10.1002/ajmg.10427 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014761896
383 rdf:type schema:CreativeWork
384 https://doi.org/10.1006/gyno.1994.1323 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003611289
385 rdf:type schema:CreativeWork
386 https://doi.org/10.1006/nlme.1999.3914 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045477488
387 rdf:type schema:CreativeWork
388 https://doi.org/10.1016/0092-8674(91)90125-i schema:sameAs https://app.dimensions.ai/details/publication/pub.1031781612
389 rdf:type schema:CreativeWork
390 https://doi.org/10.1016/0092-8674(91)90283-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044506370
391 rdf:type schema:CreativeWork
392 https://doi.org/10.1016/0092-8674(91)90397-h schema:sameAs https://app.dimensions.ai/details/publication/pub.1050395340
393 rdf:type schema:CreativeWork
394 https://doi.org/10.1016/j.ajhg.2009.09.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002573675
395 rdf:type schema:CreativeWork
396 https://doi.org/10.1016/j.jmoldx.2011.05.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027316392
397 rdf:type schema:CreativeWork
398 https://doi.org/10.1056/nejm199112123252401 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027510175
399 rdf:type schema:CreativeWork
400 https://doi.org/10.1086/301800 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018747728
401 rdf:type schema:CreativeWork
402 https://doi.org/10.1086/321974 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029881959
403 rdf:type schema:CreativeWork
404 https://doi.org/10.1093/hmg/ddq037 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041927370
405 rdf:type schema:CreativeWork
406 https://doi.org/10.1111/j.1399-0004.2009.01275.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1049511340
407 rdf:type schema:CreativeWork
408 https://doi.org/10.1111/j.1469-8749.2009.03545.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1037945439
409 rdf:type schema:CreativeWork
410 https://doi.org/10.1111/j.1651-2227.2011.02252.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1016530196
411 rdf:type schema:CreativeWork
412 https://doi.org/10.1126/scitranslmed.3001708 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062686872
413 rdf:type schema:CreativeWork
414 https://doi.org/10.1136/adc.2009.179747 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053212360
415 rdf:type schema:CreativeWork
416 https://doi.org/10.1159/000084773 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021293941
417 rdf:type schema:CreativeWork
418 https://doi.org/10.1159/000087313 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040889803
419 rdf:type schema:CreativeWork
420 https://doi.org/10.1210/jc.2002-021491 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064286417
421 rdf:type schema:CreativeWork
422 https://doi.org/10.1210/jc.2011-0346 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064292727
423 rdf:type schema:CreativeWork
424 https://doi.org/10.1212/wnl.54.12.2218 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064378220
425 rdf:type schema:CreativeWork
426 https://doi.org/10.1373/clinchem.2011.177626 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032883608
427 rdf:type schema:CreativeWork
428 https://doi.org/10.1542/peds.2008-0317 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067826913
429 rdf:type schema:CreativeWork
430 https://doi.org/10.1542/peds.2011-0096 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024673689
431 rdf:type schema:CreativeWork
432 https://doi.org/10.1677/jme.0.0290023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001475339
433 rdf:type schema:CreativeWork
434 https://doi.org/10.2353/jmoldx.2008.070073 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002261983
435 rdf:type schema:CreativeWork
436 https://www.grid.ac/institutes/grid.1002.3 schema:alternateName Monash University
437 schema:name Fragile X Alliance Inc, and Centre for Developmental Disability Health Victoria, Monash University, Melbourne, Victoria, Australia
438 rdf:type schema:Organization
439 https://www.grid.ac/institutes/grid.1008.9 schema:alternateName University of Melbourne
440 schema:name Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Carlton, Victoria, Australia
441 Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
442 Department of Physiology, University of Melbourne, Melbourne, Victoria, Australia
443 Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia
444 rdf:type schema:Organization
445 https://www.grid.ac/institutes/grid.1018.8 schema:alternateName La Trobe University
446 schema:name School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
447 rdf:type schema:Organization
448 https://www.grid.ac/institutes/grid.27860.3b schema:alternateName University of California, Davis
449 schema:name Department of Pediatrics, University of California, Davis School of Medicine, Sacramento, California, USA
450 The MIND Institute, University of California, Davis Medical Center, Sacramento, California, USA
451 rdf:type schema:Organization
452 https://www.grid.ac/institutes/grid.413973.b schema:alternateName Children's Hospital at Westmead
453 schema:name New South Wales Newborn Screening Program, Children’s Hospital at Westmead, Sydney, New South Wales, Australia
454 rdf:type schema:Organization
455 https://www.grid.ac/institutes/grid.416107.5 schema:alternateName Royal Children's Hospital
456 schema:name Andrology Australia, Clayton, South Australia, Australia
457 Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia
458 rdf:type schema:Organization
459 https://www.grid.ac/institutes/grid.418307.9 schema:alternateName Greenwood Genetic Center
460 schema:name Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
461 rdf:type schema:Organization
 




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


...