A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12

AUTHORS

Marwan Shinawi, Christian P Schaaf, Samarth S Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna L Immken, Gayle Simpson Patel, Jennifer Ruth German, Arthur L Beaudet, Pawel Stankiewicz

ABSTRACT

We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome. More... »

PAGES

1269-1271

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.481

DOI

http://dx.doi.org/10.1038/ng.481

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042423921

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19898479


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": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Regulation, Developmental", 
        "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": "Intellectual Disability", 
        "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": "Nervous System Malformations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Receptors, Nicotinic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Recombination, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Seizures", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "alpha7 Nicotinic Acetylcholine Receptor", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shinawi", 
        "givenName": "Marwan", 
        "id": "sg:person.01154542400.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154542400.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schaaf", 
        "givenName": "Christian P", 
        "id": "sg:person.012476624025.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012476624025.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bhatt", 
        "givenName": "Samarth S", 
        "id": "sg:person.01332412107.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332412107.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Xia", 
        "givenName": "Zhilian", 
        "id": "sg:person.01337104200.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337104200.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Patel", 
        "givenName": "Ankita", 
        "id": "sg:person.013624065607.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013624065607.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cheung", 
        "givenName": "Sau Wai", 
        "id": "sg:person.01051432631.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051432631.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Vanderbilt University", 
          "id": "https://www.grid.ac/institutes/grid.152326.1", 
          "name": [
            "Division of Genetics and Genomic Medicine, Vanderbilt University, Nashville, Tennessee, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lanpher", 
        "givenName": "Brendan", 
        "id": "sg:person.01026437767.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026437767.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medizinisches Versorgungszentrum Humane Genetik, Munich, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nagl", 
        "givenName": "Sandra", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Praxis f\u00fcr Kinde und Jugendmedizin, Meldorf, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Herding", 
        "givenName": "Heinrich Stephan", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medizinisches Versorgungszentrum Humane Genetik, Munich, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nevinny-Stickel", 
        "givenName": "Claudia", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Clinical Genetics, Specially for Children, Austin, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Immken", 
        "givenName": "LaDonna L", 
        "id": "sg:person.013072345147.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013072345147.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Clinical Genetics, Specially for Children, Austin, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Patel", 
        "givenName": "Gayle Simpson", 
        "id": "sg:person.01366266320.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366266320.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "German", 
        "givenName": "Jennifer Ruth", 
        "id": "sg:person.01172776323.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172776323.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Beaudet", 
        "givenName": "Arthur L", 
        "id": "sg:person.014672115422.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014672115422.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instytut Matki i Dziecka", 
          "id": "https://www.grid.ac/institutes/grid.418838.e", 
          "name": [
            "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.", 
            "Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stankiewicz", 
        "givenName": "Pawel", 
        "id": "sg:person.014235161777.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235161777.09"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng.93", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001121458", 
          "https://doi.org/10.1038/ng.93"
        ], 
        "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/10.1136/jmg.2008.064378", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001871614"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0000327", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003696402"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2008.063412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006427434"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1124/mol.61.3.695", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006793818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2008.059907", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010727764"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.292", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013205747", 
          "https://doi.org/10.1038/ng.292"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.biopsych.2006.03.054", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022021494"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1145918", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024722219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0920-1211(02)00027-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027229384"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddp311", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030067242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddp311", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030067242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.schres.2008.12.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038690086"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature07229", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038869319", 
          "https://doi.org/10.1038/nature07229"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature07239", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040865418", 
          "https://doi.org/10.1038/nature07239"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2009-12", 
    "datePublishedReg": "2009-12-01", 
    "description": "We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng.481", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2423997", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2525912", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2699523", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2439258", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "41"
      }
    ], 
    "name": "A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes", 
    "pagination": "1269-1271", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ca15abc0e3efea313baf9652ddfd80a18850b420e38202f798a9a35261570fcb"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "19898479"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.481"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1042423921"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.481", 
      "https://app.dimensions.ai/details/publication/pub.1042423921"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:35", 
    "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/v90/0000000346_0000000346/records_99818_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng.481"
  }
]
 

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/ng.481'

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/ng.481'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.481'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.481'


 

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

303 TRIPLES      21 PREDICATES      60 URIs      37 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.481 schema:about N09cd562db91b4aaea205486c7709b06c
2 N1ad4e18d04734e4ca5675c04b7fbf9c5
3 N3471772e01264297b5ebb77187d9f4c0
4 N60cfb7a268fc4ad5816e595c30ac2d58
5 N651934ac754a440287f8c9fce9e8082c
6 N6764f843f8e44287bb0500c79b81b7f1
7 N6edf66cb2836420d85e992a2b8b47408
8 N7e14f2aa860f4e6783f6fef915d02269
9 N87e8bd9363134c8a9c45129f04e7890a
10 N90f08f2c5e004fd98c10c6b5929bfde3
11 N9eb90bd222754ddabd693d5697f62b55
12 Ndd41d7dddbc74816bf2ac00fc5b165fb
13 Ndf58729b328841e0ab9c9fd11491ff6d
14 Nf5abc6069b3249cfb85b9b22a41e157f
15 Nf9415b74ec09449087d432b3b8b5380e
16 Nf95a09bb23164752a8956a2898a275e2
17 anzsrc-for:06
18 anzsrc-for:0604
19 schema:author Nf988049ca9e34f69a4272cd71a99e838
20 schema:citation sg:pub.10.1038/nature07229
21 sg:pub.10.1038/nature07239
22 sg:pub.10.1038/ng.292
23 sg:pub.10.1038/ng.93
24 sg:pub.10.1186/gb-2007-8-6-r114
25 https://doi.org/10.1016/j.biopsych.2006.03.054
26 https://doi.org/10.1016/j.schres.2008.12.017
27 https://doi.org/10.1016/s0920-1211(02)00027-x
28 https://doi.org/10.1093/hmg/ddp311
29 https://doi.org/10.1124/mol.61.3.695
30 https://doi.org/10.1126/science.1145918
31 https://doi.org/10.1136/jmg.2008.059907
32 https://doi.org/10.1136/jmg.2008.063412
33 https://doi.org/10.1136/jmg.2008.064378
34 https://doi.org/10.1371/journal.pone.0000327
35 schema:datePublished 2009-12
36 schema:datePublishedReg 2009-12-01
37 schema:description We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.
38 schema:genre research_article
39 schema:inLanguage en
40 schema:isAccessibleForFree true
41 schema:isPartOf N17af31d583844fffbe1696927a064967
42 N733a2c43b39244bf8e5d4a7a5ebb0e7c
43 sg:journal.1103138
44 schema:name A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
45 schema:pagination 1269-1271
46 schema:productId N20b0c36e50ce436c98d8911455f3fb41
47 N568644429379413e808e1d6705f9d76d
48 N714b74bb6dd041c79cae36a8ce08cf1a
49 N7e20cd73dee6492199449ed57b592d02
50 Nfadc230e8c0341e88b982d70185fcb53
51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042423921
52 https://doi.org/10.1038/ng.481
53 schema:sdDatePublished 2019-04-11T09:35
54 schema:sdLicense https://scigraph.springernature.com/explorer/license/
55 schema:sdPublisher N366139d6b841404ba59e290ef8fee391
56 schema:url http://www.nature.com/articles/ng.481
57 sgo:license sg:explorer/license/
58 sgo:sdDataset articles
59 rdf:type schema:ScholarlyArticle
60 N0020396aacf7460ca3563b9198cacdf8 rdf:first sg:person.014672115422.00
61 rdf:rest N1a82b729b53c4e49904d1e9082c4316f
62 N06114b98b5ce4df4a022ac5e459626bb rdf:first sg:person.01332412107.46
63 rdf:rest Nb4503fd782de47d6a13daaa58d5d1c0e
64 N09cd562db91b4aaea205486c7709b06c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Infant
66 rdf:type schema:DefinedTerm
67 N0dfdd4659e1948e79efb59ca9e112a25 rdf:first sg:person.01172776323.86
68 rdf:rest N0020396aacf7460ca3563b9198cacdf8
69 N17af31d583844fffbe1696927a064967 schema:issueNumber 12
70 rdf:type schema:PublicationIssue
71 N1a82b729b53c4e49904d1e9082c4316f rdf:first sg:person.014235161777.09
72 rdf:rest rdf:nil
73 N1ad4e18d04734e4ca5675c04b7fbf9c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Gene Expression Regulation, Developmental
75 rdf:type schema:DefinedTerm
76 N20b0c36e50ce436c98d8911455f3fb41 schema:name readcube_id
77 schema:value ca15abc0e3efea313baf9652ddfd80a18850b420e38202f798a9a35261570fcb
78 rdf:type schema:PropertyValue
79 N30d8611092d0481399c8a98e2cb920d6 schema:affiliation Ne0b10f02ff514fccbdbc03c32fcfb1a9
80 schema:familyName Herding
81 schema:givenName Heinrich Stephan
82 rdf:type schema:Person
83 N3471772e01264297b5ebb77187d9f4c0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Seizures
85 rdf:type schema:DefinedTerm
86 N366139d6b841404ba59e290ef8fee391 schema:name Springer Nature - SN SciGraph project
87 rdf:type schema:Organization
88 N3ee1926823804e91b245cce66818a2c1 rdf:first N30d8611092d0481399c8a98e2cb920d6
89 rdf:rest N99138d97b60348a2b3c64d13aedd41fb
90 N4edd02b2d8de4bebb7cba2a89e170ae2 schema:name Medizinisches Versorgungszentrum Humane Genetik, Munich, Germany.
91 rdf:type schema:Organization
92 N502bc25a58b44059ad8487f3c0a3d220 rdf:first sg:person.013072345147.46
93 rdf:rest N657118c480a748cfbe554f45fd7056ee
94 N568644429379413e808e1d6705f9d76d schema:name doi
95 schema:value 10.1038/ng.481
96 rdf:type schema:PropertyValue
97 N60cfb7a268fc4ad5816e595c30ac2d58 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name alpha7 Nicotinic Acetylcholine Receptor
99 rdf:type schema:DefinedTerm
100 N651934ac754a440287f8c9fce9e8082c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Chromosome Deletion
102 rdf:type schema:DefinedTerm
103 N657118c480a748cfbe554f45fd7056ee rdf:first sg:person.01366266320.13
104 rdf:rest N0dfdd4659e1948e79efb59ca9e112a25
105 N6764f843f8e44287bb0500c79b81b7f1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Adult
107 rdf:type schema:DefinedTerm
108 N6edf66cb2836420d85e992a2b8b47408 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Middle Aged
110 rdf:type schema:DefinedTerm
111 N714b74bb6dd041c79cae36a8ce08cf1a schema:name nlm_unique_id
112 schema:value 9216904
113 rdf:type schema:PropertyValue
114 N733a2c43b39244bf8e5d4a7a5ebb0e7c schema:volumeNumber 41
115 rdf:type schema:PublicationVolume
116 N75e367b0dbc943d0af30a975803d89a2 schema:affiliation Nef048b92d82e447ea82f53fe1fdc9a99
117 schema:familyName Nagl
118 schema:givenName Sandra
119 rdf:type schema:Person
120 N7b9af4d645df421aa94f6d65e0f99039 rdf:first sg:person.01051432631.92
121 rdf:rest N847f475c1cbd4cd28ba65b7872a0a8c4
122 N7e14f2aa860f4e6783f6fef915d02269 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Humans
124 rdf:type schema:DefinedTerm
125 N7e20cd73dee6492199449ed57b592d02 schema:name dimensions_id
126 schema:value pub.1042423921
127 rdf:type schema:PropertyValue
128 N847f475c1cbd4cd28ba65b7872a0a8c4 rdf:first sg:person.01026437767.91
129 rdf:rest Nd8300a6ef3fa4e09a3014aeb1946465e
130 N86390a59f2c64e3f9b105fdefdeda2cf rdf:first sg:person.012476624025.40
131 rdf:rest N06114b98b5ce4df4a022ac5e459626bb
132 N87e8bd9363134c8a9c45129f04e7890a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Male
134 rdf:type schema:DefinedTerm
135 N90f08f2c5e004fd98c10c6b5929bfde3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Recombination, Genetic
137 rdf:type schema:DefinedTerm
138 N99138d97b60348a2b3c64d13aedd41fb rdf:first Nfa8e6144912e4365950895ae4ab19217
139 rdf:rest N502bc25a58b44059ad8487f3c0a3d220
140 N9eb90bd222754ddabd693d5697f62b55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Receptors, Nicotinic
142 rdf:type schema:DefinedTerm
143 Nb4503fd782de47d6a13daaa58d5d1c0e rdf:first sg:person.01337104200.43
144 rdf:rest Nd899f6c7ef374bb58d9c06c44732bd07
145 Nd8300a6ef3fa4e09a3014aeb1946465e rdf:first N75e367b0dbc943d0af30a975803d89a2
146 rdf:rest N3ee1926823804e91b245cce66818a2c1
147 Nd899f6c7ef374bb58d9c06c44732bd07 rdf:first sg:person.013624065607.15
148 rdf:rest N7b9af4d645df421aa94f6d65e0f99039
149 Ndd41d7dddbc74816bf2ac00fc5b165fb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Phenotype
151 rdf:type schema:DefinedTerm
152 Ndf58729b328841e0ab9c9fd11491ff6d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Female
154 rdf:type schema:DefinedTerm
155 Ne0b10f02ff514fccbdbc03c32fcfb1a9 schema:name Praxis für Kinde und Jugendmedizin, Meldorf, Germany.
156 rdf:type schema:Organization
157 Nef048b92d82e447ea82f53fe1fdc9a99 schema:name Medizinisches Versorgungszentrum Humane Genetik, Munich, Germany.
158 rdf:type schema:Organization
159 Nef6fbb14f69740f7ac33ab6dad9199f0 schema:name Clinical Genetics, Specially for Children, Austin, Texas, USA.
160 rdf:type schema:Organization
161 Nf5abc6069b3249cfb85b9b22a41e157f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Abnormalities, Multiple
163 rdf:type schema:DefinedTerm
164 Nf9415b74ec09449087d432b3b8b5380e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Nervous System Malformations
166 rdf:type schema:DefinedTerm
167 Nf95a09bb23164752a8956a2898a275e2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
168 schema:name Intellectual Disability
169 rdf:type schema:DefinedTerm
170 Nf988049ca9e34f69a4272cd71a99e838 rdf:first sg:person.01154542400.29
171 rdf:rest N86390a59f2c64e3f9b105fdefdeda2cf
172 Nfa8e6144912e4365950895ae4ab19217 schema:affiliation N4edd02b2d8de4bebb7cba2a89e170ae2
173 schema:familyName Nevinny-Stickel
174 schema:givenName Claudia
175 rdf:type schema:Person
176 Nfadc230e8c0341e88b982d70185fcb53 schema:name pubmed_id
177 schema:value 19898479
178 rdf:type schema:PropertyValue
179 Nff99fde6f9ea4c73bdd39e484c2c4354 schema:name Clinical Genetics, Specially for Children, Austin, Texas, USA.
180 rdf:type schema:Organization
181 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
182 schema:name Biological Sciences
183 rdf:type schema:DefinedTerm
184 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
185 schema:name Genetics
186 rdf:type schema:DefinedTerm
187 sg:grant.2423997 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.481
188 rdf:type schema:MonetaryGrant
189 sg:grant.2439258 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.481
190 rdf:type schema:MonetaryGrant
191 sg:grant.2525912 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.481
192 rdf:type schema:MonetaryGrant
193 sg:grant.2699523 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.481
194 rdf:type schema:MonetaryGrant
195 sg:journal.1103138 schema:issn 1061-4036
196 1546-1718
197 schema:name Nature Genetics
198 rdf:type schema:Periodical
199 sg:person.01026437767.91 schema:affiliation https://www.grid.ac/institutes/grid.152326.1
200 schema:familyName Lanpher
201 schema:givenName Brendan
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026437767.91
203 rdf:type schema:Person
204 sg:person.01051432631.92 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
205 schema:familyName Cheung
206 schema:givenName Sau Wai
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051432631.92
208 rdf:type schema:Person
209 sg:person.01154542400.29 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
210 schema:familyName Shinawi
211 schema:givenName Marwan
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154542400.29
213 rdf:type schema:Person
214 sg:person.01172776323.86 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
215 schema:familyName German
216 schema:givenName Jennifer Ruth
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172776323.86
218 rdf:type schema:Person
219 sg:person.012476624025.40 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
220 schema:familyName Schaaf
221 schema:givenName Christian P
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012476624025.40
223 rdf:type schema:Person
224 sg:person.013072345147.46 schema:affiliation Nef6fbb14f69740f7ac33ab6dad9199f0
225 schema:familyName Immken
226 schema:givenName LaDonna L
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013072345147.46
228 rdf:type schema:Person
229 sg:person.01332412107.46 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
230 schema:familyName Bhatt
231 schema:givenName Samarth S
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332412107.46
233 rdf:type schema:Person
234 sg:person.01337104200.43 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
235 schema:familyName Xia
236 schema:givenName Zhilian
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337104200.43
238 rdf:type schema:Person
239 sg:person.013624065607.15 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
240 schema:familyName Patel
241 schema:givenName Ankita
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013624065607.15
243 rdf:type schema:Person
244 sg:person.01366266320.13 schema:affiliation Nff99fde6f9ea4c73bdd39e484c2c4354
245 schema:familyName Patel
246 schema:givenName Gayle Simpson
247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366266320.13
248 rdf:type schema:Person
249 sg:person.014235161777.09 schema:affiliation https://www.grid.ac/institutes/grid.418838.e
250 schema:familyName Stankiewicz
251 schema:givenName Pawel
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235161777.09
253 rdf:type schema:Person
254 sg:person.014672115422.00 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
255 schema:familyName Beaudet
256 schema:givenName Arthur L
257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014672115422.00
258 rdf:type schema:Person
259 sg:pub.10.1038/nature07229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038869319
260 https://doi.org/10.1038/nature07229
261 rdf:type schema:CreativeWork
262 sg:pub.10.1038/nature07239 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040865418
263 https://doi.org/10.1038/nature07239
264 rdf:type schema:CreativeWork
265 sg:pub.10.1038/ng.292 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013205747
266 https://doi.org/10.1038/ng.292
267 rdf:type schema:CreativeWork
268 sg:pub.10.1038/ng.93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001121458
269 https://doi.org/10.1038/ng.93
270 rdf:type schema:CreativeWork
271 sg:pub.10.1186/gb-2007-8-6-r114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001266316
272 https://doi.org/10.1186/gb-2007-8-6-r114
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1016/j.biopsych.2006.03.054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022021494
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1016/j.schres.2008.12.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038690086
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1016/s0920-1211(02)00027-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1027229384
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1093/hmg/ddp311 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030067242
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1124/mol.61.3.695 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006793818
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1126/science.1145918 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024722219
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1136/jmg.2008.059907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010727764
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1136/jmg.2008.063412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006427434
289 rdf:type schema:CreativeWork
290 https://doi.org/10.1136/jmg.2008.064378 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001871614
291 rdf:type schema:CreativeWork
292 https://doi.org/10.1371/journal.pone.0000327 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003696402
293 rdf:type schema:CreativeWork
294 https://www.grid.ac/institutes/grid.152326.1 schema:alternateName Vanderbilt University
295 schema:name Division of Genetics and Genomic Medicine, Vanderbilt University, Nashville, Tennessee, USA.
296 rdf:type schema:Organization
297 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
298 schema:name Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
299 rdf:type schema:Organization
300 https://www.grid.ac/institutes/grid.418838.e schema:alternateName Instytut Matki i Dziecka
301 schema:name Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
302 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
303 rdf:type schema:Organization
 




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


...