Ontology type: schema:ScholarlyArticle
2017-08
AUTHORSStacy Steinberg, Steinunn Gudmundsdottir, Gardar Sveinbjornsson, Jaana Suvisaari, Tiina Paunio, Minna Torniainen-Holm, Michael L Frigge, Gudrun A Jonsdottir, Johanna Huttenlocher, Sunna Arnarsdottir, Oddur Ingimarsson, Magnus Haraldsson, Thorarinn Tyrfingsson, Thorgeir E Thorgeirsson, Augustine Kong, Gudmundur L Norddahl, Daniel F Gudbjartsson, Engilbert Sigurdsson, Hreinn Stefansson, Kari Stefansson
ABSTRACTThus far, a handful of highly penetrant mutations conferring risk of psychosis have been discovered. Here we used whole-genome sequencing and long-range phasing to investigate an Icelandic kindred containing ten individuals with psychosis (schizophrenia, schizoaffective disorder or psychotic bipolar disorder). We found that all affected individuals carry RBM12 (RNA-binding-motif protein 12) c.2377G>T (P = 2.2 × 10-4), a nonsense mutation that results in the production of a truncated protein lacking a predicted RNA-recognition motif. We replicated the association in a Finnish family in which a second RBM12 truncating mutation (c.2532delT) segregates with psychosis (P = 0.020). c.2377G>T is not fully penetrant for psychosis; however, we found that carriers unaffected by psychosis resemble patients with schizophrenia in their non-psychotic psychiatric disorder and neuropsychological test profile (P = 0.0043) as well as in their life outcomes (including an increased chance of receiving disability benefits, P = 0.011). As RBM12 has not previously been linked to psychosis, this work provides new insight into psychiatric disease. More... »
PAGES1251-1254
http://scigraph.springernature.com/pub.10.1038/ng.3894
DOIhttp://dx.doi.org/10.1038/ng.3894
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1086109001
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/28628109
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/2008/1103",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Clinical Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Codon, Nonsense",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Family Health",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genome, Human",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Iceland",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Psychotic Disorders",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "RNA-Binding Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Sequence Analysis, DNA",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Steinberg",
"givenName": "Stacy",
"id": "sg:person.0721633133.76",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721633133.76"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Gudmundsdottir",
"givenName": "Steinunn",
"id": "sg:person.01036077031.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036077031.49"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Sveinbjornsson",
"givenName": "Gardar",
"id": "sg:person.0700374216.54",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700374216.54"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Institute for Health and Welfare",
"id": "https://www.grid.ac/institutes/grid.14758.3f",
"name": [
"National Institute for Health and Welfare (THL), Helsinki, Finland."
],
"type": "Organization"
},
"familyName": "Suvisaari",
"givenName": "Jaana",
"id": "sg:person.01222345271.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222345271.18"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Helsinki University Central Hospital",
"id": "https://www.grid.ac/institutes/grid.15485.3d",
"name": [
"National Institute for Health and Welfare (THL), Helsinki, Finland.",
"Department of Psychiatry, University of Helsinki and Helsinki University Hospital, Helsinki, Finland."
],
"type": "Organization"
},
"familyName": "Paunio",
"givenName": "Tiina",
"id": "sg:person.01017202010.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017202010.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute for Molecular Medicine Finland",
"id": "https://www.grid.ac/institutes/grid.452494.a",
"name": [
"National Institute for Health and Welfare (THL), Helsinki, Finland.",
"Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland."
],
"type": "Organization"
},
"familyName": "Torniainen-Holm",
"givenName": "Minna",
"id": "sg:person.01173172613.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01173172613.46"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Frigge",
"givenName": "Michael L",
"id": "sg:person.0711722303.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711722303.19"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Jonsdottir",
"givenName": "Gudrun A",
"id": "sg:person.01346172003.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346172003.46"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of T\u00fcbingen",
"id": "https://www.grid.ac/institutes/grid.10392.39",
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland.",
"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen, T\u00fcbingen, Germany."
],
"type": "Organization"
},
"familyName": "Huttenlocher",
"givenName": "Johanna",
"id": "sg:person.01002116134.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002116134.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National University Hospital of Iceland",
"id": "https://www.grid.ac/institutes/grid.410540.4",
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland.",
"Department of Psychiatry, Landspitali, National University Hospital, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Arnarsdottir",
"givenName": "Sunna",
"id": "sg:person.0640541572.42",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640541572.42"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Iceland",
"id": "https://www.grid.ac/institutes/grid.14013.37",
"name": [
"Department of Psychiatry, Landspitali, National University Hospital, Reykjavik, Iceland.",
"Faculty of Medicine, University of Iceland, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Ingimarsson",
"givenName": "Oddur",
"id": "sg:person.014520462321.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014520462321.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Iceland",
"id": "https://www.grid.ac/institutes/grid.14013.37",
"name": [
"Department of Psychiatry, Landspitali, National University Hospital, Reykjavik, Iceland.",
"Faculty of Medicine, University of Iceland, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Haraldsson",
"givenName": "Magnus",
"id": "sg:person.01044515221.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044515221.44"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"National Center of Addiction Medicine, Vogur Hospital, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Tyrfingsson",
"givenName": "Thorarinn",
"id": "sg:person.0733153203.17",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0733153203.17"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Thorgeirsson",
"givenName": "Thorgeir E",
"id": "sg:person.0672020421.27",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672020421.27"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Kong",
"givenName": "Augustine",
"id": "sg:person.010001043302.06",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010001043302.06"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Norddahl",
"givenName": "Gudmundur L",
"id": "sg:person.0771421022.72",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771421022.72"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Gudbjartsson",
"givenName": "Daniel F",
"id": "sg:person.0637651205.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637651205.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Iceland",
"id": "https://www.grid.ac/institutes/grid.14013.37",
"name": [
"Department of Psychiatry, Landspitali, National University Hospital, Reykjavik, Iceland.",
"Faculty of Medicine, University of Iceland, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Sigurdsson",
"givenName": "Engilbert",
"id": "sg:person.010662623474.74",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010662623474.74"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Stefansson",
"givenName": "Hreinn",
"id": "sg:person.0611467633.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611467633.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Iceland",
"id": "https://www.grid.ac/institutes/grid.14013.37",
"name": [
"deCODE Genetics/Amgen, Reykjavik, Iceland.",
"Faculty of Medicine, University of Iceland, Reykjavik, Iceland."
],
"type": "Organization"
},
"familyName": "Stefansson",
"givenName": "Kari",
"id": "sg:person.0723426172.10",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723426172.10"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1074/mcp.m113.035600",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000153846"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12975",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000329485",
"https://doi.org/10.1038/nature12975"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nn.4402",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001404153",
"https://doi.org/10.1038/nn.4402"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nn.4267",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001710003",
"https://doi.org/10.1038/nn.4267"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1534/g3.111.001669",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002110673"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1534/g3.111.001669",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002110673"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1523/jneurosci.0779-15.2015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003484412"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/mp.2016.24",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004101734",
"https://doi.org/10.1038/mp.2016.24"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2882",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006024989",
"https://doi.org/10.1038/ng.2882"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1523/jneurosci.1860-14.2014",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007098650"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.943",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014682139",
"https://doi.org/10.1038/ng.943"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archpsyc.1978.01770300115013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015104139"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1080/00221309.1948.9918159",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015287211"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3406",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016405801",
"https://doi.org/10.1038/ng.3406"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/2040-2392-4-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018240013",
"https://doi.org/10.1186/2040-2392-4-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3247",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020692466",
"https://doi.org/10.1038/ng.3247"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/10.26.3037",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020779043"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature13595",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021916306",
"https://doi.org/10.1038/nature13595"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkv1344",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022063719"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature19057",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022281897",
"https://doi.org/10.1038/nature19057"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/mp.2015.143",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024405238",
"https://doi.org/10.1038/mp.2015.143"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3303",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029270993",
"https://doi.org/10.1038/ng.3303"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/gkj143",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031585631"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2653",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032444369",
"https://doi.org/10.1038/ng.2653"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12124",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032844135",
"https://doi.org/10.1038/nature12124"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/(sici)1096-8628(19970725)74:4<353::aid-ajmg3>3.0.co;2-q",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034144668"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archpsyc.1991.01810320088015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037118818"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrm2178",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039155948",
"https://doi.org/10.1038/nrm2178"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archpsyc.56.10.940",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041035362"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1159/000152448",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041243572"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature13185",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042640888",
"https://doi.org/10.1038/nature13185"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12818",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043154470",
"https://doi.org/10.1038/nature12818"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/dvdy.21098",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043770342"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.84.8.2363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044151047"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/jamapsychiatry.2013.268",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045628955"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0028-3932(90)90137-d",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046010598"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0028-3932(90)90137-d",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046010598"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3664",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047034454",
"https://doi.org/10.1038/ng.3664"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12929",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049383355",
"https://doi.org/10.1038/nature12929"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature14962",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049666571",
"https://doi.org/10.1038/nature14962"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1037/h0054651",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051133025"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0140-6736(90)91520-k",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052585661"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0140-6736(90)91520-k",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052585661"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1192/bjp.154.6.797",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064170037"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1212/wnl.39.9.1159",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064368629"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2466/pms.8.7.271-276",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1070776398"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2466/pms.1958.8.3.271",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1070783411"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2466/pms.1958.8.3.271",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1070783411"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1083371524",
"type": "CreativeWork"
}
],
"datePublished": "2017-08",
"datePublishedReg": "2017-08-01",
"description": "Thus far, a handful of highly penetrant mutations conferring risk of psychosis have been discovered. Here we used whole-genome sequencing and long-range phasing to investigate an Icelandic kindred containing ten individuals with psychosis (schizophrenia, schizoaffective disorder or psychotic bipolar disorder). We found that all affected individuals carry RBM12 (RNA-binding-motif protein 12) c.2377G>T (P = 2.2 \u00d7 10-4), a nonsense mutation that results in the production of a truncated protein lacking a predicted RNA-recognition motif. We replicated the association in a Finnish family in which a second RBM12 truncating mutation (c.2532delT) segregates with psychosis (P = 0.020). c.2377G>T is not fully penetrant for psychosis; however, we found that carriers unaffected by psychosis resemble patients with schizophrenia in their non-psychotic psychiatric disorder and neuropsychological test profile (P = 0.0043) as well as in their life outcomes (including an increased chance of receiving disability benefits, P = 0.011). As RBM12 has not previously been linked to psychosis, this work provides new insight into psychiatric disease.",
"genre": "research_article",
"id": "sg:pub.10.1038/ng.3894",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isFundedItemOf": [
{
"id": "sg:grant.3787801",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2485817",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2551179",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2487289",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.4576591",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1103138",
"issn": [
"1061-4036",
"1546-1718"
],
"name": "Nature Genetics",
"type": "Periodical"
},
{
"issueNumber": "8",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "49"
}
],
"name": "Truncating mutations in RBM12 are associated with psychosis",
"pagination": "1251-1254",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"cd7210c8e33f5dfa326aa8b63202555be083233291b1ebf4cb262e237088a371"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"28628109"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9216904"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/ng.3894"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1086109001"
]
}
],
"sameAs": [
"https://doi.org/10.1038/ng.3894",
"https://app.dimensions.ai/details/publication/pub.1086109001"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T12:23",
"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/v90/0000000362_0000000362/records_87091_00000001.jsonl",
"type": "ScholarlyArticle",
"url": "http://www.nature.com/ng/journal/v49/n8/full/ng.3894.html"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.3894'
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.3894'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3894'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3894'
This table displays all metadata directly associated to this object as RDF triples.
450 TRIPLES
21 PREDICATES
84 URIs
31 LITERALS
19 BLANK NODES