7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-12-15

AUTHORS

Antonio Adamo, Sina Atashpaz, Pierre-Luc Germain, Matteo Zanella, Giuseppe D'Agostino, Veronica Albertin, Josh Chenoweth, Lucia Micale, Carmela Fusco, Christian Unger, Bartolomeo Augello, Orazio Palumbo, Brad Hamilton, Massimo Carella, Emilio Donti, Giancarlo Pruneri, Angelo Selicorni, Elisa Biamino, Paolo Prontera, Ronald McKay, Giuseppe Merla, Giuseppe Testa

ABSTRACT

Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10–20% of the transcriptional dysregulation observed in these cells. More... »

PAGES

132-141

References to SciGraph publications

  • 2007-05-27. A ROCK inhibitor permits survival of dissociated human embryonic stem cells in NATURE BIOTECHNOLOGY
  • 2013-02-21. High-throughput chromatin immunoprecipitation for genome-wide mapping of in vivo protein-DNA interactions and epigenomic states in NATURE PROTOCOLS
  • 2012-11-18. Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells in NATURE
  • 2011-05-22. LSD1 regulates the balance between self-renewal and differentiation in human embryonic stem cells in NATURE CELL BIOLOGY
  • 2013-01-03. Directed differentiation of human pluripotent cells to neural crest stem cells in NATURE PROTOCOLS
  • 2010-04-17. Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits in HUMAN GENETICS
  • 2014-08-31. Genetic variability in the regulation of gene expression in ten regions of the human brain in NATURE NEUROSCIENCE
  • 2011-11-03. Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2000-12. Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12–p13 in EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
  • 2012-02-05. Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses in NATURE NEUROSCIENCE
  • 2014-04-11. Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2013-06-12. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-05-15. Origins and implications of pluripotent stem cell variability and heterogeneity in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2009-07-01. An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-02-11. Genomic instability in induced stem cells in CELL DEATH & DIFFERENTIATION
  • 2007-08-02. Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips in NATURE PROTOCOLS
  • 2010-05-01. Copy number variants at Williams–Beuren syndrome 7q11.23 region in HUMAN GENETICS
  • 2012-09-13. Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks in NATURE PROTOCOLS
  • 2012-09-19. An anatomically comprehensive atlas of the adult human brain transcriptome in NATURE
  • 2014-07-02. Abnormalities in human pluripotent cells due to reprogramming mechanisms in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3169

    DOI

    http://dx.doi.org/10.1038/ng.3169

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1013944922

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25501393


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Differentiation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Lineage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 7", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cohort Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Comparative Genomic Hybridization", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Copy Number Variations", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Dosage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Duplication", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Profiling", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Regulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Histone Demethylases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Oligonucleotide Array Sequence Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pluripotent Stem Cells", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, RNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Transcription Factors, TFII", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Williams Syndrome", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Adamo", 
            "givenName": "Antonio", 
            "id": "sg:person.01216765332.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216765332.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Atashpaz", 
            "givenName": "Sina", 
            "id": "sg:person.01172127230.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172127230.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Germain", 
            "givenName": "Pierre-Luc", 
            "id": "sg:person.01035674114.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035674114.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zanella", 
            "givenName": "Matteo", 
            "id": "sg:person.01221421460.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221421460.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "D'Agostino", 
            "givenName": "Giuseppe", 
            "id": "sg:person.015721127731.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015721127731.53"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Albertin", 
            "givenName": "Veronica", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Lieber Institute for Brain Development, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.429552.d", 
              "name": [
                "Lieber Institute for Brain Development, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chenoweth", 
            "givenName": "Josh", 
            "id": "sg:person.015142435327.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015142435327.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Micale", 
            "givenName": "Lucia", 
            "id": "sg:person.0746744502.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744502.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fusco", 
            "givenName": "Carmela", 
            "id": "sg:person.01212413536.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212413536.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biomedical Sciences, University of Sheffield, Sheffield, UK", 
              "id": "http://www.grid.ac/institutes/grid.11835.3e", 
              "name": [
                "Department of Biomedical Sciences, University of Sheffield, Sheffield, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Unger", 
            "givenName": "Christian", 
            "id": "sg:person.0751564147.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751564147.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Augello", 
            "givenName": "Bartolomeo", 
            "id": "sg:person.01177421502.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177421502.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Palumbo", 
            "givenName": "Orazio", 
            "id": "sg:person.01324145556.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324145556.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Stemgent, Cambridge, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Stemgent, Cambridge, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hamilton", 
            "givenName": "Brad", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Carella", 
            "givenName": "Massimo", 
            "id": "sg:person.0701537353.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701537353.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy", 
              "id": "http://www.grid.ac/institutes/grid.9027.c", 
              "name": [
                "Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Donti", 
            "givenName": "Emilio", 
            "id": "sg:person.0760205347.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760205347.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pruneri", 
            "givenName": "Giancarlo", 
            "id": "sg:person.01232050025.49", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232050025.49"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Unit\u00e0 Operativa Semplice (UOS) Genetica Clinica Pediatrica, Fondazione Monza e Brianza per il Bambino e la sua Mamma (Fondazione MBBM), Azienda Ospedaliera San Gerardo, Monza, Italy", 
              "id": "http://www.grid.ac/institutes/grid.415025.7", 
              "name": [
                "Unit\u00e0 Operativa Semplice (UOS) Genetica Clinica Pediatrica, Fondazione Monza e Brianza per il Bambino e la sua Mamma (Fondazione MBBM), Azienda Ospedaliera San Gerardo, Monza, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Selicorni", 
            "givenName": "Angelo", 
            "id": "sg:person.01215142600.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215142600.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Turin, Turin, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7605.4", 
              "name": [
                "Department of Pediatrics, University of Turin, Turin, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Biamino", 
            "givenName": "Elisa", 
            "id": "sg:person.01317421753.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317421753.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy", 
              "id": "http://www.grid.ac/institutes/grid.9027.c", 
              "name": [
                "Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Prontera", 
            "givenName": "Paolo", 
            "id": "sg:person.01350041732.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350041732.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Lieber Institute for Brain Development, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.429552.d", 
              "name": [
                "Lieber Institute for Brain Development, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McKay", 
            "givenName": "Ronald", 
            "id": "sg:person.010146555477.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010146555477.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy", 
              "id": "http://www.grid.ac/institutes/grid.413503.0", 
              "name": [
                "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Merla", 
            "givenName": "Giuseppe", 
            "id": "sg:person.0666654566.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666654566.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Health Sciences, University of Milan, Milan, Italy", 
              "id": "http://www.grid.ac/institutes/grid.4708.b", 
              "name": [
                "Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy", 
                "Department of Health Sciences, University of Milan, Milan, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Testa", 
            "givenName": "Giuseppe", 
            "id": "sg:person.01232530660.59", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232530660.59"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nprot.2012.156", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000883700", 
              "https://doi.org/10.1038/nprot.2012.156"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11629", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002086310", 
              "https://doi.org/10.1038/nature11629"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/cdd.2011.9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039195900", 
              "https://doi.org/10.1038/cdd.2011.9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ncb2246", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043979680", 
              "https://doi.org/10.1038/ncb2246"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s007870070035", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001454449", 
              "https://doi.org/10.1007/s007870070035"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10803-011-1389-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011373838", 
              "https://doi.org/10.1007/s10803-011-1389-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2009.108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015150441", 
              "https://doi.org/10.1038/ejhg.2009.108"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2013.101", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007560194", 
              "https://doi.org/10.1038/ejhg.2013.101"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nn.3801", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052242395", 
              "https://doi.org/10.1038/nn.3801"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13551", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021458311", 
              "https://doi.org/10.1038/nature13551"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0827-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023549217", 
              "https://doi.org/10.1007/s00439-010-0827-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrm3584", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017295221", 
              "https://doi.org/10.1038/nrm3584"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2007.261", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048442956", 
              "https://doi.org/10.1038/nprot.2007.261"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nn.3041", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044160054", 
              "https://doi.org/10.1038/nn.3041"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11405", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044384575", 
              "https://doi.org/10.1038/nature11405"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt1310", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024578139", 
              "https://doi.org/10.1038/nbt1310"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10803-014-2117-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050846140", 
              "https://doi.org/10.1007/s10803-014-2117-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0817-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023066114", 
              "https://doi.org/10.1007/s00439-010-0817-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2012.116", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043421085", 
              "https://doi.org/10.1038/nprot.2012.116"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2013.023", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050194372", 
              "https://doi.org/10.1038/nprot.2013.023"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2014-12-15", 
        "datePublishedReg": "2014-12-15", 
        "description": "Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10\u201320% of the transcriptional dysregulation observed in these cells.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng.3169", 
        "inLanguage": "en", 
        "isAccessibleForFree": false, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.5150384", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3801072", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "2", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "47"
          }
        ], 
        "keywords": [
          "induced pluripotent stem cells", 
          "pluripotent stem cells", 
          "stem cells", 
          "patient-derived induced pluripotent stem cells", 
          "human pluripotent stem cells", 
          "transcriptional characterization", 
          "transcriptional program", 
          "copy number variants", 
          "transcriptional dysregulation", 
          "number variants", 
          "cells", 
          "dysregulation", 
          "lineages", 
          "testa", 
          "phenotype", 
          "neurocognitive phenotype", 
          "variants", 
          "characterization", 
          "generation", 
          "syndrome", 
          "program", 
          "dosage", 
          "colleagues", 
          "account", 
          "Giuseppe Testa", 
          "transcription factor gene GTF2I accounts", 
          "factor gene GTF2I accounts", 
          "gene GTF2I accounts", 
          "GTF2I accounts", 
          "dosage-dependent dysregulation", 
          "disease-relevant lineages"
        ], 
        "name": "7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages", 
        "pagination": "132-141", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1013944922"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng.3169"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "25501393"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng.3169", 
          "https://app.dimensions.ai/details/publication/pub.1013944922"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:34", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_648.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng.3169"
      }
    ]
     

    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.3169'

    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.3169'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3169'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3169'


     

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

    419 TRIPLES      22 PREDICATES      95 URIs      67 LITERALS      25 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng.3169 schema:about N06e48bf54e15438a9239f5ab46406091
    2 N562a605cdbab494991703a526bb30e9e
    3 N62e5770cdee5407f98b6ac598ce5ec65
    4 N6853847f8bce4a2397ed944096bb55b9
    5 N793defd160a84cebb1a8076462cc70fb
    6 N7bd9ead60f7d452f801878efd721c091
    7 N84598d6f6bfb485f8d9fdb2bd6651ef2
    8 N8a2123cbb30b4f229e3f85f11bd25330
    9 N8c04d1252e4e40aca60f420156392ee0
    10 Na1f267823a51461f9a8b656466baa150
    11 Nd7a7e9845b0148b18cc120f68ae3a527
    12 Ndbf0d754c17e419ab6f11eda46fcbee3
    13 Ndc1bc874070c45449dc1283934e76f79
    14 Neab07d1fa22846a79128ce7944d4b48b
    15 Ned478e8e598c46349013d05a7f31d054
    16 Nf16abb1264514e62bc07232554c7f0a1
    17 Nf447111e86e74c248e779c21a58dc8c1
    18 Nfb20caaee6f5444688a30768396e09b0
    19 anzsrc-for:06
    20 anzsrc-for:0604
    21 schema:author N7ebb90cd001b40799b93c8bb5197b2f1
    22 schema:citation sg:pub.10.1007/s00439-010-0817-4
    23 sg:pub.10.1007/s00439-010-0827-2
    24 sg:pub.10.1007/s007870070035
    25 sg:pub.10.1007/s10803-011-1389-4
    26 sg:pub.10.1007/s10803-014-2117-7
    27 sg:pub.10.1038/cdd.2011.9
    28 sg:pub.10.1038/ejhg.2009.108
    29 sg:pub.10.1038/ejhg.2013.101
    30 sg:pub.10.1038/nature11405
    31 sg:pub.10.1038/nature11629
    32 sg:pub.10.1038/nature13551
    33 sg:pub.10.1038/nbt1310
    34 sg:pub.10.1038/ncb2246
    35 sg:pub.10.1038/nn.3041
    36 sg:pub.10.1038/nn.3801
    37 sg:pub.10.1038/nprot.2007.261
    38 sg:pub.10.1038/nprot.2012.116
    39 sg:pub.10.1038/nprot.2012.156
    40 sg:pub.10.1038/nprot.2013.023
    41 sg:pub.10.1038/nrm3584
    42 schema:datePublished 2014-12-15
    43 schema:datePublishedReg 2014-12-15
    44 schema:description Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10–20% of the transcriptional dysregulation observed in these cells.
    45 schema:genre article
    46 schema:inLanguage en
    47 schema:isAccessibleForFree false
    48 schema:isPartOf N16818e252580485ab4c789bdfa9bd1f0
    49 Nd7df4dca889747cba5be03a59e3dbfff
    50 sg:journal.1103138
    51 schema:keywords GTF2I accounts
    52 Giuseppe Testa
    53 account
    54 cells
    55 characterization
    56 colleagues
    57 copy number variants
    58 disease-relevant lineages
    59 dosage
    60 dosage-dependent dysregulation
    61 dysregulation
    62 factor gene GTF2I accounts
    63 gene GTF2I accounts
    64 generation
    65 human pluripotent stem cells
    66 induced pluripotent stem cells
    67 lineages
    68 neurocognitive phenotype
    69 number variants
    70 patient-derived induced pluripotent stem cells
    71 phenotype
    72 pluripotent stem cells
    73 program
    74 stem cells
    75 syndrome
    76 testa
    77 transcription factor gene GTF2I accounts
    78 transcriptional characterization
    79 transcriptional dysregulation
    80 transcriptional program
    81 variants
    82 schema:name 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
    83 schema:pagination 132-141
    84 schema:productId N037a5cbc2f864820bc06ad614918f587
    85 N6116ceb9b561487fae97ed62db983399
    86 Nce38c090121049eea10677be6c42b019
    87 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013944922
    88 https://doi.org/10.1038/ng.3169
    89 schema:sdDatePublished 2022-01-01T18:34
    90 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    91 schema:sdPublisher N1aea210c5b014394ba8bed7ba8b16b09
    92 schema:url https://doi.org/10.1038/ng.3169
    93 sgo:license sg:explorer/license/
    94 sgo:sdDataset articles
    95 rdf:type schema:ScholarlyArticle
    96 N01d2248a56474c2899c8304337605685 rdf:first sg:person.01172127230.16
    97 rdf:rest N3a6d87eab21e421bba86c1f10e0dc34f
    98 N02c1a5ab67da4db7852496f7d389ea66 rdf:first sg:person.01232530660.59
    99 rdf:rest rdf:nil
    100 N037a5cbc2f864820bc06ad614918f587 schema:name dimensions_id
    101 schema:value pub.1013944922
    102 rdf:type schema:PropertyValue
    103 N06e48bf54e15438a9239f5ab46406091 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    104 schema:name Pluripotent Stem Cells
    105 rdf:type schema:DefinedTerm
    106 N0ee5aa2ffb1c43769371d08d4e5d591d rdf:first sg:person.01324145556.42
    107 rdf:rest N25981a7bba7c4510b665e2cae2a6b06c
    108 N1135436852cb4852ba38a3f533b4dfb6 rdf:first sg:person.015142435327.04
    109 rdf:rest N446d95081e384d40bcd5e9ff95d2a016
    110 N115898332db5422dbc706eeaed2a76b3 schema:affiliation grid-institutes:None
    111 schema:familyName Hamilton
    112 schema:givenName Brad
    113 rdf:type schema:Person
    114 N16818e252580485ab4c789bdfa9bd1f0 schema:issueNumber 2
    115 rdf:type schema:PublicationIssue
    116 N1aea210c5b014394ba8bed7ba8b16b09 schema:name Springer Nature - SN SciGraph project
    117 rdf:type schema:Organization
    118 N1c005a3a48fa435bbeeccbd22edf7a0b rdf:first sg:person.0701537353.17
    119 rdf:rest Nec60be2060bf432986d12c29fa48c64a
    120 N25981a7bba7c4510b665e2cae2a6b06c rdf:first N115898332db5422dbc706eeaed2a76b3
    121 rdf:rest N1c005a3a48fa435bbeeccbd22edf7a0b
    122 N2a971fd84e77490a9d2bed2377690dd4 rdf:first sg:person.01232050025.49
    123 rdf:rest Na1cc0752eab6419588c85edc44945a2a
    124 N2d2c6079b2984339a2a6b774c957f487 rdf:first sg:person.01177421502.28
    125 rdf:rest N0ee5aa2ffb1c43769371d08d4e5d591d
    126 N375a3ab3d679418e86a9913dfcb24d46 rdf:first sg:person.015721127731.53
    127 rdf:rest Nb6671b94a78c4d6da3bc7b33e1459eca
    128 N3a6d87eab21e421bba86c1f10e0dc34f rdf:first sg:person.01035674114.74
    129 rdf:rest N880e2ee4fa814ca7bc694b3459db6c98
    130 N446d95081e384d40bcd5e9ff95d2a016 rdf:first sg:person.0746744502.41
    131 rdf:rest Nf015627508b64a3790cd0511b69fed21
    132 N562a605cdbab494991703a526bb30e9e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    133 schema:name Chromosomes, Human, Pair 7
    134 rdf:type schema:DefinedTerm
    135 N6116ceb9b561487fae97ed62db983399 schema:name doi
    136 schema:value 10.1038/ng.3169
    137 rdf:type schema:PropertyValue
    138 N62e5770cdee5407f98b6ac598ce5ec65 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Oligonucleotide Array Sequence Analysis
    140 rdf:type schema:DefinedTerm
    141 N636bbca14c0445f483d3e6e729a96eaf rdf:first sg:person.0666654566.01
    142 rdf:rest N02c1a5ab67da4db7852496f7d389ea66
    143 N6853847f8bce4a2397ed944096bb55b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    144 schema:name Histone Demethylases
    145 rdf:type schema:DefinedTerm
    146 N793defd160a84cebb1a8076462cc70fb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Humans
    148 rdf:type schema:DefinedTerm
    149 N796d00a1ec124e1596c3323f51c5da6a schema:affiliation grid-institutes:grid.414603.4
    150 schema:familyName Albertin
    151 schema:givenName Veronica
    152 rdf:type schema:Person
    153 N7bd9ead60f7d452f801878efd721c091 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    154 schema:name Phenotype
    155 rdf:type schema:DefinedTerm
    156 N7ebb90cd001b40799b93c8bb5197b2f1 rdf:first sg:person.01216765332.34
    157 rdf:rest N01d2248a56474c2899c8304337605685
    158 N84598d6f6bfb485f8d9fdb2bd6651ef2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    159 schema:name Transcription Factors, TFII
    160 rdf:type schema:DefinedTerm
    161 N880e2ee4fa814ca7bc694b3459db6c98 rdf:first sg:person.01221421460.42
    162 rdf:rest N375a3ab3d679418e86a9913dfcb24d46
    163 N8a2123cbb30b4f229e3f85f11bd25330 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    164 schema:name Sequence Analysis, RNA
    165 rdf:type schema:DefinedTerm
    166 N8c04d1252e4e40aca60f420156392ee0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    167 schema:name Cohort Studies
    168 rdf:type schema:DefinedTerm
    169 N9a72cbb0e0074705a6ced0847621f4d4 rdf:first sg:person.01350041732.31
    170 rdf:rest Nc92c2e38b23943b39ca882df66f2bee1
    171 Na1cc0752eab6419588c85edc44945a2a rdf:first sg:person.01215142600.01
    172 rdf:rest Ne1d5565c9a854f9688edb65586c01884
    173 Na1f267823a51461f9a8b656466baa150 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Cell Lineage
    175 rdf:type schema:DefinedTerm
    176 Naaf31915fc7b485e9f629cbe5cdae3fe rdf:first sg:person.0751564147.61
    177 rdf:rest N2d2c6079b2984339a2a6b774c957f487
    178 Nb6671b94a78c4d6da3bc7b33e1459eca rdf:first N796d00a1ec124e1596c3323f51c5da6a
    179 rdf:rest N1135436852cb4852ba38a3f533b4dfb6
    180 Nc92c2e38b23943b39ca882df66f2bee1 rdf:first sg:person.010146555477.22
    181 rdf:rest N636bbca14c0445f483d3e6e729a96eaf
    182 Nce38c090121049eea10677be6c42b019 schema:name pubmed_id
    183 schema:value 25501393
    184 rdf:type schema:PropertyValue
    185 Nd7a7e9845b0148b18cc120f68ae3a527 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    186 schema:name Williams Syndrome
    187 rdf:type schema:DefinedTerm
    188 Nd7df4dca889747cba5be03a59e3dbfff schema:volumeNumber 47
    189 rdf:type schema:PublicationVolume
    190 Ndbf0d754c17e419ab6f11eda46fcbee3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    191 schema:name Gene Duplication
    192 rdf:type schema:DefinedTerm
    193 Ndc1bc874070c45449dc1283934e76f79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    194 schema:name Gene Dosage
    195 rdf:type schema:DefinedTerm
    196 Ne1d5565c9a854f9688edb65586c01884 rdf:first sg:person.01317421753.43
    197 rdf:rest N9a72cbb0e0074705a6ced0847621f4d4
    198 Neab07d1fa22846a79128ce7944d4b48b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    199 schema:name Comparative Genomic Hybridization
    200 rdf:type schema:DefinedTerm
    201 Nec60be2060bf432986d12c29fa48c64a rdf:first sg:person.0760205347.04
    202 rdf:rest N2a971fd84e77490a9d2bed2377690dd4
    203 Ned478e8e598c46349013d05a7f31d054 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    204 schema:name DNA Copy Number Variations
    205 rdf:type schema:DefinedTerm
    206 Nf015627508b64a3790cd0511b69fed21 rdf:first sg:person.01212413536.64
    207 rdf:rest Naaf31915fc7b485e9f629cbe5cdae3fe
    208 Nf16abb1264514e62bc07232554c7f0a1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    209 schema:name Gene Expression Profiling
    210 rdf:type schema:DefinedTerm
    211 Nf447111e86e74c248e779c21a58dc8c1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    212 schema:name Cell Differentiation
    213 rdf:type schema:DefinedTerm
    214 Nfb20caaee6f5444688a30768396e09b0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    215 schema:name Gene Expression Regulation
    216 rdf:type schema:DefinedTerm
    217 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    218 schema:name Biological Sciences
    219 rdf:type schema:DefinedTerm
    220 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    221 schema:name Genetics
    222 rdf:type schema:DefinedTerm
    223 sg:grant.3801072 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3169
    224 rdf:type schema:MonetaryGrant
    225 sg:grant.5150384 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3169
    226 rdf:type schema:MonetaryGrant
    227 sg:journal.1103138 schema:issn 1061-4036
    228 1546-1718
    229 schema:name Nature Genetics
    230 schema:publisher Springer Nature
    231 rdf:type schema:Periodical
    232 sg:person.010146555477.22 schema:affiliation grid-institutes:grid.429552.d
    233 schema:familyName McKay
    234 schema:givenName Ronald
    235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010146555477.22
    236 rdf:type schema:Person
    237 sg:person.01035674114.74 schema:affiliation grid-institutes:grid.414603.4
    238 schema:familyName Germain
    239 schema:givenName Pierre-Luc
    240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01035674114.74
    241 rdf:type schema:Person
    242 sg:person.01172127230.16 schema:affiliation grid-institutes:grid.414603.4
    243 schema:familyName Atashpaz
    244 schema:givenName Sina
    245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172127230.16
    246 rdf:type schema:Person
    247 sg:person.01177421502.28 schema:affiliation grid-institutes:grid.413503.0
    248 schema:familyName Augello
    249 schema:givenName Bartolomeo
    250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177421502.28
    251 rdf:type schema:Person
    252 sg:person.01212413536.64 schema:affiliation grid-institutes:grid.413503.0
    253 schema:familyName Fusco
    254 schema:givenName Carmela
    255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212413536.64
    256 rdf:type schema:Person
    257 sg:person.01215142600.01 schema:affiliation grid-institutes:grid.415025.7
    258 schema:familyName Selicorni
    259 schema:givenName Angelo
    260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215142600.01
    261 rdf:type schema:Person
    262 sg:person.01216765332.34 schema:affiliation grid-institutes:grid.414603.4
    263 schema:familyName Adamo
    264 schema:givenName Antonio
    265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216765332.34
    266 rdf:type schema:Person
    267 sg:person.01221421460.42 schema:affiliation grid-institutes:grid.414603.4
    268 schema:familyName Zanella
    269 schema:givenName Matteo
    270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221421460.42
    271 rdf:type schema:Person
    272 sg:person.01232050025.49 schema:affiliation grid-institutes:grid.414603.4
    273 schema:familyName Pruneri
    274 schema:givenName Giancarlo
    275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232050025.49
    276 rdf:type schema:Person
    277 sg:person.01232530660.59 schema:affiliation grid-institutes:grid.4708.b
    278 schema:familyName Testa
    279 schema:givenName Giuseppe
    280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232530660.59
    281 rdf:type schema:Person
    282 sg:person.01317421753.43 schema:affiliation grid-institutes:grid.7605.4
    283 schema:familyName Biamino
    284 schema:givenName Elisa
    285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317421753.43
    286 rdf:type schema:Person
    287 sg:person.01324145556.42 schema:affiliation grid-institutes:grid.413503.0
    288 schema:familyName Palumbo
    289 schema:givenName Orazio
    290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324145556.42
    291 rdf:type schema:Person
    292 sg:person.01350041732.31 schema:affiliation grid-institutes:grid.9027.c
    293 schema:familyName Prontera
    294 schema:givenName Paolo
    295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350041732.31
    296 rdf:type schema:Person
    297 sg:person.015142435327.04 schema:affiliation grid-institutes:grid.429552.d
    298 schema:familyName Chenoweth
    299 schema:givenName Josh
    300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015142435327.04
    301 rdf:type schema:Person
    302 sg:person.015721127731.53 schema:affiliation grid-institutes:grid.414603.4
    303 schema:familyName D'Agostino
    304 schema:givenName Giuseppe
    305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015721127731.53
    306 rdf:type schema:Person
    307 sg:person.0666654566.01 schema:affiliation grid-institutes:grid.413503.0
    308 schema:familyName Merla
    309 schema:givenName Giuseppe
    310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666654566.01
    311 rdf:type schema:Person
    312 sg:person.0701537353.17 schema:affiliation grid-institutes:grid.413503.0
    313 schema:familyName Carella
    314 schema:givenName Massimo
    315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701537353.17
    316 rdf:type schema:Person
    317 sg:person.0746744502.41 schema:affiliation grid-institutes:grid.413503.0
    318 schema:familyName Micale
    319 schema:givenName Lucia
    320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744502.41
    321 rdf:type schema:Person
    322 sg:person.0751564147.61 schema:affiliation grid-institutes:grid.11835.3e
    323 schema:familyName Unger
    324 schema:givenName Christian
    325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751564147.61
    326 rdf:type schema:Person
    327 sg:person.0760205347.04 schema:affiliation grid-institutes:grid.9027.c
    328 schema:familyName Donti
    329 schema:givenName Emilio
    330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760205347.04
    331 rdf:type schema:Person
    332 sg:pub.10.1007/s00439-010-0817-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023066114
    333 https://doi.org/10.1007/s00439-010-0817-4
    334 rdf:type schema:CreativeWork
    335 sg:pub.10.1007/s00439-010-0827-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023549217
    336 https://doi.org/10.1007/s00439-010-0827-2
    337 rdf:type schema:CreativeWork
    338 sg:pub.10.1007/s007870070035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001454449
    339 https://doi.org/10.1007/s007870070035
    340 rdf:type schema:CreativeWork
    341 sg:pub.10.1007/s10803-011-1389-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011373838
    342 https://doi.org/10.1007/s10803-011-1389-4
    343 rdf:type schema:CreativeWork
    344 sg:pub.10.1007/s10803-014-2117-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050846140
    345 https://doi.org/10.1007/s10803-014-2117-7
    346 rdf:type schema:CreativeWork
    347 sg:pub.10.1038/cdd.2011.9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039195900
    348 https://doi.org/10.1038/cdd.2011.9
    349 rdf:type schema:CreativeWork
    350 sg:pub.10.1038/ejhg.2009.108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015150441
    351 https://doi.org/10.1038/ejhg.2009.108
    352 rdf:type schema:CreativeWork
    353 sg:pub.10.1038/ejhg.2013.101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007560194
    354 https://doi.org/10.1038/ejhg.2013.101
    355 rdf:type schema:CreativeWork
    356 sg:pub.10.1038/nature11405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044384575
    357 https://doi.org/10.1038/nature11405
    358 rdf:type schema:CreativeWork
    359 sg:pub.10.1038/nature11629 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002086310
    360 https://doi.org/10.1038/nature11629
    361 rdf:type schema:CreativeWork
    362 sg:pub.10.1038/nature13551 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021458311
    363 https://doi.org/10.1038/nature13551
    364 rdf:type schema:CreativeWork
    365 sg:pub.10.1038/nbt1310 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024578139
    366 https://doi.org/10.1038/nbt1310
    367 rdf:type schema:CreativeWork
    368 sg:pub.10.1038/ncb2246 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043979680
    369 https://doi.org/10.1038/ncb2246
    370 rdf:type schema:CreativeWork
    371 sg:pub.10.1038/nn.3041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044160054
    372 https://doi.org/10.1038/nn.3041
    373 rdf:type schema:CreativeWork
    374 sg:pub.10.1038/nn.3801 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052242395
    375 https://doi.org/10.1038/nn.3801
    376 rdf:type schema:CreativeWork
    377 sg:pub.10.1038/nprot.2007.261 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048442956
    378 https://doi.org/10.1038/nprot.2007.261
    379 rdf:type schema:CreativeWork
    380 sg:pub.10.1038/nprot.2012.116 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043421085
    381 https://doi.org/10.1038/nprot.2012.116
    382 rdf:type schema:CreativeWork
    383 sg:pub.10.1038/nprot.2012.156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000883700
    384 https://doi.org/10.1038/nprot.2012.156
    385 rdf:type schema:CreativeWork
    386 sg:pub.10.1038/nprot.2013.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050194372
    387 https://doi.org/10.1038/nprot.2013.023
    388 rdf:type schema:CreativeWork
    389 sg:pub.10.1038/nrm3584 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017295221
    390 https://doi.org/10.1038/nrm3584
    391 rdf:type schema:CreativeWork
    392 grid-institutes:None schema:alternateName Stemgent, Cambridge, Massachusetts, USA
    393 schema:name Stemgent, Cambridge, Massachusetts, USA
    394 rdf:type schema:Organization
    395 grid-institutes:grid.11835.3e schema:alternateName Department of Biomedical Sciences, University of Sheffield, Sheffield, UK
    396 schema:name Department of Biomedical Sciences, University of Sheffield, Sheffield, UK
    397 rdf:type schema:Organization
    398 grid-institutes:grid.413503.0 schema:alternateName Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    399 schema:name Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    400 rdf:type schema:Organization
    401 grid-institutes:grid.414603.4 schema:alternateName Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy
    402 schema:name Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy
    403 rdf:type schema:Organization
    404 grid-institutes:grid.415025.7 schema:alternateName Unità Operativa Semplice (UOS) Genetica Clinica Pediatrica, Fondazione Monza e Brianza per il Bambino e la sua Mamma (Fondazione MBBM), Azienda Ospedaliera San Gerardo, Monza, Italy
    405 schema:name Unità Operativa Semplice (UOS) Genetica Clinica Pediatrica, Fondazione Monza e Brianza per il Bambino e la sua Mamma (Fondazione MBBM), Azienda Ospedaliera San Gerardo, Monza, Italy
    406 rdf:type schema:Organization
    407 grid-institutes:grid.429552.d schema:alternateName Lieber Institute for Brain Development, Baltimore, Maryland, USA
    408 schema:name Lieber Institute for Brain Development, Baltimore, Maryland, USA
    409 rdf:type schema:Organization
    410 grid-institutes:grid.4708.b schema:alternateName Department of Health Sciences, University of Milan, Milan, Italy
    411 schema:name Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy
    412 Department of Health Sciences, University of Milan, Milan, Italy
    413 rdf:type schema:Organization
    414 grid-institutes:grid.7605.4 schema:alternateName Department of Pediatrics, University of Turin, Turin, Italy
    415 schema:name Department of Pediatrics, University of Turin, Turin, Italy
    416 rdf:type schema:Organization
    417 grid-institutes:grid.9027.c schema:alternateName Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy
    418 schema:name Medical Genetics Unit, Hospital Santa Maria della Misericordia, University of Perugia, Perugia, Italy
    419 rdf:type schema:Organization
     




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


    ...