Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12

AUTHORS

David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N Carolyn Schanen

ABSTRACT

Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype. More... »

PAGES

27

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1755-8166-2-27

DOI

http://dx.doi.org/10.1186/1755-8166-2-27

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048285302

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20021661


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Delaware", 
          "id": "https://www.grid.ac/institutes/grid.33489.35", 
          "name": [
            "Department of Biological Sciences, University of Delaware, Newark, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wu", 
        "givenName": "David J", 
        "id": "sg:person.01234141370.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234141370.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Department of Human Genetics, Geffen School of Medicine, University of California, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wang", 
        "givenName": "Nicholas J", 
        "id": "sg:person.01344304120.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344304120.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Alfred I. duPont Hospital for Children", 
          "id": "https://www.grid.ac/institutes/grid.239281.3", 
          "name": [
            "Center for Applied Clinical Genomics and Center for Pediatric Research, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Driscoll", 
        "givenName": "Jennette", 
        "id": "sg:person.0735126420.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735126420.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Department of Human Genetics, Geffen School of Medicine, University of California, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dorrani", 
        "givenName": "Naghmeh", 
        "id": "sg:person.01051355020.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051355020.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Department of Human Genetics, Geffen School of Medicine, University of California, Los Angeles, California, USA", 
            "Division of Biotechnology, California South Bay University, Sunnyvale, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liu", 
        "givenName": "Dahai", 
        "id": "sg:person.01230003526.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230003526.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Neuropsychiatric Institute, Geffen School of Medicine, University of California, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sigman", 
        "givenName": "Marian", 
        "id": "sg:person.01066425104.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066425104.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Thomas Jefferson University", 
          "id": "https://www.grid.ac/institutes/grid.265008.9", 
          "name": [
            "Department of Biological Sciences, University of Delaware, Newark, USA", 
            "Center for Applied Clinical Genomics and Center for Pediatric Research, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA", 
            "Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schanen", 
        "givenName": "N Carolyn", 
        "id": "sg:person.01277423404.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277423404.37"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.nbd.2008.08.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000145548"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200760", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000218575", 
          "https://doi.org/10.1038/sj.ejhg.5200760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200760", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000218575", 
          "https://doi.org/10.1038/sj.ejhg.5200760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/gb-2007-8-6-r114", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001266316", 
          "https://doi.org/10.1186/gb-2007-8-6-r114"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2007.00860.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002595804"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1995.tb04075.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004435907"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0597-15", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011647558", 
          "https://doi.org/10.1038/ng0597-15"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02172145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017747169", 
          "https://doi.org/10.1007/bf02172145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02172145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017747169", 
          "https://doi.org/10.1007/bf02172145"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10803-004-1039-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023282893", 
          "https://doi.org/10.1007/s10803-004-1039-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.1118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024552180"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02211841", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031175125", 
          "https://doi.org/10.1007/bf02211841"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02211841", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031175125", 
          "https://doi.org/10.1007/bf02211841"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<77::aid-ajmg18>3.0.co;2-n", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036456180"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<294::aid-ajmg4>3.0.co;2-u", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037106556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddp114", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038288880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1044/jshr.3801.157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038339414"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2004.028258", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039371704"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.34.11.945", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045826122"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320450519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050611023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320450519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050611023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2156-9-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053343198", 
          "https://doi.org/10.1186/1471-2156-9-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2008.04.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053698080"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/422854", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058712772"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jpepsy/10.2.215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059824639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.48.4.1081", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064374836"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081859525", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083073530", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2009-12", 
    "datePublishedReg": "2009-12-01", 
    "description": "Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/1755-8166-2-27", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1039110", 
        "issn": [
          "1755-8166"
        ], 
        "name": "Molecular Cytogenetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "2"
      }
    ], 
    "name": "Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report", 
    "pagination": "27", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e6065ab5c24e3a454b2bd2632f7aa89dc65f52ab7fe8fb2aed282ce0695b696f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20021661"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101317942"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1755-8166-2-27"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1048285302"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1755-8166-2-27", 
      "https://app.dimensions.ai/details/publication/pub.1048285302"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T00:17", 
    "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_8695_00000516.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2F1755-8166-2-27"
  }
]
 

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.10.1186/1755-8166-2-27'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1755-8166-2-27'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1755-8166-2-27'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1755-8166-2-27'


 

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

200 TRIPLES      21 PREDICATES      53 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1755-8166-2-27 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Nf23bda09678745ce82557357787f7eb7
4 schema:citation sg:pub.10.1007/bf02172145
5 sg:pub.10.1007/bf02211841
6 sg:pub.10.1007/s10803-004-1039-1
7 sg:pub.10.1038/ng0597-15
8 sg:pub.10.1038/sj.ejhg.5200760
9 sg:pub.10.1186/1471-2156-9-2
10 sg:pub.10.1186/gb-2007-8-6-r114
11 https://app.dimensions.ai/details/publication/pub.1081859525
12 https://app.dimensions.ai/details/publication/pub.1083073530
13 https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<77::aid-ajmg18>3.0.co;2-n
14 https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<294::aid-ajmg4>3.0.co;2-u
15 https://doi.org/10.1002/ajmg.1320450519
16 https://doi.org/10.1002/humu.1118
17 https://doi.org/10.1016/j.ejmg.2008.04.003
18 https://doi.org/10.1016/j.nbd.2008.08.011
19 https://doi.org/10.1044/jshr.3801.157
20 https://doi.org/10.1086/422854
21 https://doi.org/10.1093/hmg/ddp114
22 https://doi.org/10.1093/jpepsy/10.2.215
23 https://doi.org/10.1111/j.1399-0004.1995.tb04075.x
24 https://doi.org/10.1111/j.1399-0004.2007.00860.x
25 https://doi.org/10.1136/jmg.2004.028258
26 https://doi.org/10.1136/jmg.34.11.945
27 https://doi.org/10.1212/wnl.48.4.1081
28 schema:datePublished 2009-12
29 schema:datePublishedReg 2009-12-01
30 schema:description Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter. Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34. This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.
31 schema:genre research_article
32 schema:inLanguage en
33 schema:isAccessibleForFree true
34 schema:isPartOf Nc6401f23ad4d46bf95bfe9cc1268f4c3
35 Ne1354aa02d1c4046aebcd63da30b1618
36 sg:journal.1039110
37 schema:name Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
38 schema:pagination 27
39 schema:productId N27f7c51e4b40402d8b842636c83cf966
40 N9a4c73b85ba14ce3b13e065a316675a1
41 Nbb2bb11ec5244f74b29412728497c8d9
42 Nbe950087df724189aac5504e3485bd04
43 Nea4a3f214eab4519b5a7520019d00b6e
44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048285302
45 https://doi.org/10.1186/1755-8166-2-27
46 schema:sdDatePublished 2019-04-11T00:17
47 schema:sdLicense https://scigraph.springernature.com/explorer/license/
48 schema:sdPublisher N2e864cc7e6ef4f3491a2ee503a076b3a
49 schema:url http://link.springer.com/10.1186%2F1755-8166-2-27
50 sgo:license sg:explorer/license/
51 sgo:sdDataset articles
52 rdf:type schema:ScholarlyArticle
53 N0962a0890474497ab57e323190b539e0 rdf:first sg:person.01051355020.66
54 rdf:rest N68e186a9ce4c46069dd30af4ae74789c
55 N097f4b6ab56d411cb0209ac856099178 rdf:first sg:person.0735126420.46
56 rdf:rest N0962a0890474497ab57e323190b539e0
57 N27f7c51e4b40402d8b842636c83cf966 schema:name dimensions_id
58 schema:value pub.1048285302
59 rdf:type schema:PropertyValue
60 N2e864cc7e6ef4f3491a2ee503a076b3a schema:name Springer Nature - SN SciGraph project
61 rdf:type schema:Organization
62 N3b4d371b6487492fa845ba285ba76ab9 rdf:first sg:person.01066425104.14
63 rdf:rest Ne754a494a6f94a9e8d2365ab7a4d5347
64 N68e186a9ce4c46069dd30af4ae74789c rdf:first sg:person.01230003526.40
65 rdf:rest N3b4d371b6487492fa845ba285ba76ab9
66 N9a4c73b85ba14ce3b13e065a316675a1 schema:name readcube_id
67 schema:value e6065ab5c24e3a454b2bd2632f7aa89dc65f52ab7fe8fb2aed282ce0695b696f
68 rdf:type schema:PropertyValue
69 Nbb2bb11ec5244f74b29412728497c8d9 schema:name doi
70 schema:value 10.1186/1755-8166-2-27
71 rdf:type schema:PropertyValue
72 Nbce54fb5270f412288a7356cae6ebbf6 rdf:first sg:person.01344304120.16
73 rdf:rest N097f4b6ab56d411cb0209ac856099178
74 Nbe950087df724189aac5504e3485bd04 schema:name pubmed_id
75 schema:value 20021661
76 rdf:type schema:PropertyValue
77 Nc6401f23ad4d46bf95bfe9cc1268f4c3 schema:issueNumber 1
78 rdf:type schema:PublicationIssue
79 Ne1354aa02d1c4046aebcd63da30b1618 schema:volumeNumber 2
80 rdf:type schema:PublicationVolume
81 Ne754a494a6f94a9e8d2365ab7a4d5347 rdf:first sg:person.01277423404.37
82 rdf:rest rdf:nil
83 Nea4a3f214eab4519b5a7520019d00b6e schema:name nlm_unique_id
84 schema:value 101317942
85 rdf:type schema:PropertyValue
86 Nf23bda09678745ce82557357787f7eb7 rdf:first sg:person.01234141370.25
87 rdf:rest Nbce54fb5270f412288a7356cae6ebbf6
88 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
89 schema:name Biological Sciences
90 rdf:type schema:DefinedTerm
91 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
92 schema:name Genetics
93 rdf:type schema:DefinedTerm
94 sg:journal.1039110 schema:issn 1755-8166
95 schema:name Molecular Cytogenetics
96 rdf:type schema:Periodical
97 sg:person.01051355020.66 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
98 schema:familyName Dorrani
99 schema:givenName Naghmeh
100 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051355020.66
101 rdf:type schema:Person
102 sg:person.01066425104.14 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
103 schema:familyName Sigman
104 schema:givenName Marian
105 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066425104.14
106 rdf:type schema:Person
107 sg:person.01230003526.40 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
108 schema:familyName Liu
109 schema:givenName Dahai
110 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230003526.40
111 rdf:type schema:Person
112 sg:person.01234141370.25 schema:affiliation https://www.grid.ac/institutes/grid.33489.35
113 schema:familyName Wu
114 schema:givenName David J
115 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234141370.25
116 rdf:type schema:Person
117 sg:person.01277423404.37 schema:affiliation https://www.grid.ac/institutes/grid.265008.9
118 schema:familyName Schanen
119 schema:givenName N Carolyn
120 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277423404.37
121 rdf:type schema:Person
122 sg:person.01344304120.16 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
123 schema:familyName Wang
124 schema:givenName Nicholas J
125 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344304120.16
126 rdf:type schema:Person
127 sg:person.0735126420.46 schema:affiliation https://www.grid.ac/institutes/grid.239281.3
128 schema:familyName Driscoll
129 schema:givenName Jennette
130 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735126420.46
131 rdf:type schema:Person
132 sg:pub.10.1007/bf02172145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017747169
133 https://doi.org/10.1007/bf02172145
134 rdf:type schema:CreativeWork
135 sg:pub.10.1007/bf02211841 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031175125
136 https://doi.org/10.1007/bf02211841
137 rdf:type schema:CreativeWork
138 sg:pub.10.1007/s10803-004-1039-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023282893
139 https://doi.org/10.1007/s10803-004-1039-1
140 rdf:type schema:CreativeWork
141 sg:pub.10.1038/ng0597-15 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011647558
142 https://doi.org/10.1038/ng0597-15
143 rdf:type schema:CreativeWork
144 sg:pub.10.1038/sj.ejhg.5200760 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000218575
145 https://doi.org/10.1038/sj.ejhg.5200760
146 rdf:type schema:CreativeWork
147 sg:pub.10.1186/1471-2156-9-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053343198
148 https://doi.org/10.1186/1471-2156-9-2
149 rdf:type schema:CreativeWork
150 sg:pub.10.1186/gb-2007-8-6-r114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001266316
151 https://doi.org/10.1186/gb-2007-8-6-r114
152 rdf:type schema:CreativeWork
153 https://app.dimensions.ai/details/publication/pub.1081859525 schema:CreativeWork
154 https://app.dimensions.ai/details/publication/pub.1083073530 schema:CreativeWork
155 https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<77::aid-ajmg18>3.0.co;2-n schema:sameAs https://app.dimensions.ai/details/publication/pub.1036456180
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<294::aid-ajmg4>3.0.co;2-u schema:sameAs https://app.dimensions.ai/details/publication/pub.1037106556
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1002/ajmg.1320450519 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050611023
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1002/humu.1118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024552180
162 rdf:type schema:CreativeWork
163 https://doi.org/10.1016/j.ejmg.2008.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053698080
164 rdf:type schema:CreativeWork
165 https://doi.org/10.1016/j.nbd.2008.08.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000145548
166 rdf:type schema:CreativeWork
167 https://doi.org/10.1044/jshr.3801.157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038339414
168 rdf:type schema:CreativeWork
169 https://doi.org/10.1086/422854 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058712772
170 rdf:type schema:CreativeWork
171 https://doi.org/10.1093/hmg/ddp114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038288880
172 rdf:type schema:CreativeWork
173 https://doi.org/10.1093/jpepsy/10.2.215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059824639
174 rdf:type schema:CreativeWork
175 https://doi.org/10.1111/j.1399-0004.1995.tb04075.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1004435907
176 rdf:type schema:CreativeWork
177 https://doi.org/10.1111/j.1399-0004.2007.00860.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1002595804
178 rdf:type schema:CreativeWork
179 https://doi.org/10.1136/jmg.2004.028258 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039371704
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1136/jmg.34.11.945 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045826122
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1212/wnl.48.4.1081 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064374836
184 rdf:type schema:CreativeWork
185 https://www.grid.ac/institutes/grid.19006.3e schema:alternateName University of California Los Angeles
186 schema:name Department of Human Genetics, Geffen School of Medicine, University of California, Los Angeles, California, USA
187 Division of Biotechnology, California South Bay University, Sunnyvale, California, USA
188 Neuropsychiatric Institute, Geffen School of Medicine, University of California, Los Angeles, California, USA
189 rdf:type schema:Organization
190 https://www.grid.ac/institutes/grid.239281.3 schema:alternateName Alfred I. duPont Hospital for Children
191 schema:name Center for Applied Clinical Genomics and Center for Pediatric Research, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
192 rdf:type schema:Organization
193 https://www.grid.ac/institutes/grid.265008.9 schema:alternateName Thomas Jefferson University
194 schema:name Center for Applied Clinical Genomics and Center for Pediatric Research, Nemours Biomedical Research, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
195 Department of Biological Sciences, University of Delaware, Newark, USA
196 Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
197 rdf:type schema:Organization
198 https://www.grid.ac/institutes/grid.33489.35 schema:alternateName University of Delaware
199 schema:name Department of Biological Sciences, University of Delaware, Newark, USA
200 rdf:type schema:Organization
 




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


...