MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-05

AUTHORS

T. Smol, F. Petit, A. Piton, B. Keren, D. Sanlaville, A. Afenjar, S. Baker, E. C. Bedoukian, E. J. Bhoj, D. Bonneau, E. Boudry-Labis, S. Bouquillon, O. Boute-Benejean, R. Caumes, N. Chatron, C. Colson, C. Coubes, C. Coutton, F. Devillard, A. Dieux-Coeslier, M. Doco-Fenzy, L. J. Ewans, L. Faivre, E. Fassi, M. Field, C. Fournier, C. Francannet, D. Genevieve, I. Giurgea, A. Goldenberg, A. K. Green, A. M. Guerrot, D. Heron, B. Isidor, B. A. Keena, B. L. Krock, P. Kuentz, E. Lapi, N. Le Meur, G. Lesca, D. Li, I. Marey, C. Mignot, C. Nava, A. Nesbitt, G. Nicolas, C. Roche-Lestienne, T. Roscioli, V. Satre, A. Santani, M. Stefanova, S. Steinwall Larsen, P. Saugier-Veber, S. Picker-Minh, C. Thuillier, A. Verloes, G. Vieville, M. Wenzel, M. Willems, S. Whalen, Y. A. Zarate, A. Ziegler, S. Manouvrier-Hanu, V. M. Kalscheuer, B. Gerard, Jamal Ghoumid

ABSTRACT

Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition. More... »

PAGES

93-103

References to SciGraph publications

  • 2016-12. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? in PEDIATRIC RESEARCH
  • 2015-03. Large-scale discovery of novel genetic causes of developmental disorders in NATURE
  • 2015-10. Redefining the MED13L syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-10. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12. Exome Pool-Seq in neurodevelopmental disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-01. Further confirmation of the MED13L haploinsufficiency syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-07. Genome sequencing identifies major causes of severe intellectual disability in NATURE
  • 2017-02. Prevalence and architecture of de novo mutations in developmental disorders in NATURE
  • 2015-10. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-05. A conserved Mediator–CDK8 kinase module association regulates Mediator–RNA polymerase II interaction in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2016-11-08. De novo genic mutations among a Chinese autism spectrum disorder cohort in NATURE COMMUNICATIONS
  • 2015-03. The Mediator complex: a central integrator of transcription in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2010-09. CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation in HUMAN GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10048-018-0541-0

    DOI

    http://dx.doi.org/10.1007/s10048-018-0541-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1101354833

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29511999


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Lille 1 University", 
              "id": "https://www.grid.ac/institutes/grid.4461.7", 
              "name": [
                "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHU Lille, Lille, France", 
                "University of Lille, EA 7364-RADEME, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Smol", 
            "givenName": "T.", 
            "id": "sg:person.01233237147.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233237147.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Petit", 
            "givenName": "F.", 
            "id": "sg:person.01071175547.04", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071175547.04"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pitaux Universitaires de Strasbourg", 
              "id": "https://www.grid.ac/institutes/grid.412220.7", 
              "name": [
                "Laboratoire de diagnostic g\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Piton", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Keren", 
            "givenName": "B.", 
            "id": "sg:person.0637373204.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637373204.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospices Civils de Lyon", 
              "id": "https://www.grid.ac/institutes/grid.413852.9", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Lyon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sanlaville", 
            "givenName": "D.", 
            "id": "sg:person.0674535670.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674535670.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Armand Trousseau", 
              "id": "https://www.grid.ac/institutes/grid.413776.0", 
              "name": [
                "Service de G\u00e9n\u00e9tique, H\u00f4pital d\u2019Enfants Armand-Trousseau, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Afenjar", 
            "givenName": "A.", 
            "id": "sg:person.01062551527.73", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062551527.73"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baker", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Roberts Individualized Medical Genetics Center, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bedoukian", 
            "givenName": "E. C.", 
            "id": "sg:person.07704062641.70", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07704062641.70"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bhoj", 
            "givenName": "E. J.", 
            "id": "sg:person.01112225651.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112225651.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Angers", 
              "id": "https://www.grid.ac/institutes/grid.411147.6", 
              "name": [
                "Service de G\u00e9n\u00e9tique, CHU d\u2019Angers, Angers, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bonneau", 
            "givenName": "D.", 
            "id": "sg:person.01222211250.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222211250.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHU Lille, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boudry-Labis", 
            "givenName": "E.", 
            "id": "sg:person.0732065540.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732065540.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHU Lille, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bouquillon", 
            "givenName": "S.", 
            "id": "sg:person.0642707313.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642707313.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boute-Benejean", 
            "givenName": "O.", 
            "id": "sg:person.01211771451.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211771451.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Caumes", 
            "givenName": "R.", 
            "id": "sg:person.01300034312.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300034312.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospices Civils de Lyon", 
              "id": "https://www.grid.ac/institutes/grid.413852.9", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Lyon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chatron", 
            "givenName": "N.", 
            "id": "sg:person.0647120641.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647120641.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Colson", 
            "givenName": "C.", 
            "id": "sg:person.011753732413.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011753732413.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Montpellier", 
              "id": "https://www.grid.ac/institutes/grid.157868.5", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, CHU Montpellier, Montpellier, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Coubes", 
            "givenName": "C.", 
            "id": "sg:person.0614006414.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614006414.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, Grenoble, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Coutton", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, Grenoble, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Devillard", 
            "givenName": "F.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dieux-Coeslier", 
            "givenName": "A.", 
            "id": "sg:person.0712633320.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712633320.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Reims", 
              "id": "https://www.grid.ac/institutes/grid.139510.f", 
              "name": [
                "Service de G\u00e9n\u00e9tique, EA3801, SFR-CAP Sant\u00e9, CHU de Reims, Reims, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Doco-Fenzy", 
            "givenName": "M.", 
            "id": "sg:person.0660663125.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0660663125.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UNSW Australia", 
              "id": "https://www.grid.ac/institutes/grid.1005.4", 
              "name": [
                "St Vincent\u2019s Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ewans", 
            "givenName": "L. J.", 
            "id": "sg:person.01264265643.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264265643.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Burgundy", 
              "id": "https://www.grid.ac/institutes/grid.5613.1", 
              "name": [
                "Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Maladies Rares \u2018Anomalies du D\u00e9veloppement, CHU Dijon, Dijon, France", 
                "Equipe GAD, UMR INSERM 1231, Universit\u00e9 de Bourgogne, Dijon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Faivre", 
            "givenName": "L.", 
            "id": "sg:person.01237661366.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Washington University in St. Louis", 
              "id": "https://www.grid.ac/institutes/grid.4367.6", 
              "name": [
                "Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fassi", 
            "givenName": "E.", 
            "id": "sg:person.013121461427.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013121461427.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "The Genetics of Learning Disability Service, Waratah, New South Wales, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Field", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pitaux Universitaires de Strasbourg", 
              "id": "https://www.grid.ac/institutes/grid.412220.7", 
              "name": [
                "Laboratoire de diagnostic g\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fournier", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Clermont-Ferrand", 
              "id": "https://www.grid.ac/institutes/grid.411163.0", 
              "name": [
                "Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Francannet", 
            "givenName": "C.", 
            "id": "sg:person.01311063035.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311063035.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Montpellier", 
              "id": "https://www.grid.ac/institutes/grid.157868.5", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, CHU Montpellier, Montpellier, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Genevieve", 
            "givenName": "D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Armand Trousseau", 
              "id": "https://www.grid.ac/institutes/grid.413776.0", 
              "name": [
                "Service de G\u00e9n\u00e9tique, H\u00f4pital Trousseau, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Giurgea", 
            "givenName": "I.", 
            "id": "sg:person.01350765060.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350765060.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Rouen", 
              "id": "https://www.grid.ac/institutes/grid.41724.34", 
              "name": [
                "Service de G\u00e9n\u00e9tique et Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e, CHU de Rouen, Inserm et Universit\u00e9 de Rouen, Rouen, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Goldenberg", 
            "givenName": "A.", 
            "id": "sg:person.01275047145.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275047145.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Link\u00f6ping University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411384.b", 
              "name": [
                "Department of Clinical Genetics, University Hospital Link\u00f6ping, Link\u00f6ping, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Green", 
            "givenName": "A. K.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Rouen", 
              "id": "https://www.grid.ac/institutes/grid.41724.34", 
              "name": [
                "Service de G\u00e9n\u00e9tique et Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e, CHU de Rouen, Inserm et Universit\u00e9 de Rouen, Rouen, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Guerrot", 
            "givenName": "A. M.", 
            "id": "sg:person.01161367275.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161367275.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Heron", 
            "givenName": "D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Nantes", 
              "id": "https://www.grid.ac/institutes/grid.277151.7", 
              "name": [
                "Service de G\u00e9n\u00e9tique M\u00e9dicale, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, CHU de Nantes, Nantes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Isidor", 
            "givenName": "B.", 
            "id": "sg:person.0727401070.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727401070.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Clinical Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Keena", 
            "givenName": "B. A.", 
            "id": "sg:person.01204151231.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204151231.20"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Krock", 
            "givenName": "B. L.", 
            "id": "sg:person.0604613467.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604613467.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Burgundy", 
              "id": "https://www.grid.ac/institutes/grid.5613.1", 
              "name": [
                "Equipe GAD, UMR INSERM 1231, Universit\u00e9 de Bourgogne, Dijon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kuentz", 
            "givenName": "P.", 
            "id": "sg:person.01362547137.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362547137.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Azienda Ospedaliera Universitaria Senese", 
              "id": "https://www.grid.ac/institutes/grid.411477.0", 
              "name": [
                "Medical Genetics Unit, Anna Meyer Children\u2019s University Hospital, Florence, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lapi", 
            "givenName": "E.", 
            "id": "sg:person.01176011411.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176011411.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Rouen", 
              "id": "https://www.grid.ac/institutes/grid.41724.34", 
              "name": [
                "Service de G\u00e9n\u00e9tique et Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e, CHU de Rouen, Inserm et Universit\u00e9 de Rouen, Rouen, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Le Meur", 
            "givenName": "N.", 
            "id": "sg:person.01212677312.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212677312.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospices Civils de Lyon", 
              "id": "https://www.grid.ac/institutes/grid.413852.9", 
              "name": [
                "Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Lyon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lesca", 
            "givenName": "G.", 
            "id": "sg:person.015113012507.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Marey", 
            "givenName": "I.", 
            "id": "sg:person.012243753401.96", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012243753401.96"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mignot", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nava", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nesbitt", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Rouen", 
              "id": "https://www.grid.ac/institutes/grid.41724.34", 
              "name": [
                "Service de G\u00e9n\u00e9tique et Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e, CHU de Rouen, Inserm et Universit\u00e9 de Rouen, Rouen, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nicolas", 
            "givenName": "G.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHU Lille, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roche-Lestienne", 
            "givenName": "C.", 
            "id": "sg:person.01111224127.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111224127.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UNSW Australia", 
              "id": "https://www.grid.ac/institutes/grid.1005.4", 
              "name": [
                "St Vincent\u2019s Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roscioli", 
            "givenName": "T.", 
            "id": "sg:person.0776676014.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776676014.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, Grenoble, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Satre", 
            "givenName": "V.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Department of Pathology Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Santani", 
            "givenName": "A.", 
            "id": "sg:person.0600364776.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600364776.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Link\u00f6ping University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411384.b", 
              "name": [
                "Department of Clinical Genetics, University Hospital Link\u00f6ping, Link\u00f6ping, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stefanova", 
            "givenName": "M.", 
            "id": "sg:person.01316705543.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316705543.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Link\u00f6ping University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411384.b", 
              "name": [
                "Department of Clinical Genetics, University Hospital Link\u00f6ping, Link\u00f6ping, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Steinwall Larsen", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Rouen", 
              "id": "https://www.grid.ac/institutes/grid.41724.34", 
              "name": [
                "Service de G\u00e9n\u00e9tique et Inserm U1079, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e, CHU de Rouen, Inserm et Universit\u00e9 de Rouen, Rouen, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Saugier-Veber", 
            "givenName": "P.", 
            "id": "sg:person.01251022351.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251022351.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Charit\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.6363.0", 
              "name": [
                "Department of Pediatric Neurology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Picker-Minh", 
            "givenName": "S.", 
            "id": "sg:person.0602102312.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602102312.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHU Lille, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thuillier", 
            "givenName": "C.", 
            "id": "sg:person.013341242500.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013341242500.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Robert Debr\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.413235.2", 
              "name": [
                "Unit\u00e9 Fonctionnelle de G\u00e9n\u00e9tique Clinique, H\u00f4pital Robert Debr\u00e9, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Verloes", 
            "givenName": "A.", 
            "id": "sg:person.01101231156.98", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101231156.98"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, Grenoble, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vieville", 
            "givenName": "G.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of Philadelphia", 
              "id": "https://www.grid.ac/institutes/grid.239552.a", 
              "name": [
                "Clinical Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wenzel", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Montpellier", 
              "id": "https://www.grid.ac/institutes/grid.157868.5", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, CHU Montpellier, Montpellier, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Willems", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411439.a", 
              "name": [
                "D\u00e9partement de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Whalen", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Arkansas for Medical Sciences", 
              "id": "https://www.grid.ac/institutes/grid.241054.6", 
              "name": [
                "Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zarate", 
            "givenName": "Y. A.", 
            "id": "sg:person.01257371533.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257371533.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Angers", 
              "id": "https://www.grid.ac/institutes/grid.411147.6", 
              "name": [
                "Service de G\u00e9n\u00e9tique, CHU d\u2019Angers, Angers, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ziegler", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Manouvrier-Hanu", 
            "givenName": "S.", 
            "id": "sg:person.01167413553.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167413553.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Max Planck Institute for Molecular Genetics", 
              "id": "https://www.grid.ac/institutes/grid.419538.2", 
              "name": [
                "Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kalscheuer", 
            "givenName": "V. M.", 
            "id": "sg:person.01303310021.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303310021.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pitaux Universitaires de Strasbourg", 
              "id": "https://www.grid.ac/institutes/grid.412220.7", 
              "name": [
                "Laboratoire de diagnostic g\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gerard", 
            "givenName": "B.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jeanne de Flandre", 
              "id": "https://www.grid.ac/institutes/grid.414184.c", 
              "name": [
                "University of Lille, EA 7364-RADEME, Lille, France", 
                "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandre, CHU Lille, avenue Eug\u00e8ne Avin\u00e9e, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ghoumid", 
            "givenName": "Jamal", 
            "id": "sg:person.0623201231.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623201231.71"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1002/ajmg.a.36183", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002307957"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/01.cir.0000103684.77636.cd", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005135589"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature14135", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007784461", 
              "https://doi.org/10.1038/nature14135"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0848-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016870851", 
              "https://doi.org/10.1007/s00439-010-0848-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0848-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016870851", 
              "https://doi.org/10.1007/s00439-010-0848-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0848-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016870851", 
              "https://doi.org/10.1007/s00439-010-0848-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/pr.2016.162", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018801044", 
              "https://doi.org/10.1038/pr.2016.162"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2014.69", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021991513", 
              "https://doi.org/10.1038/ejhg.2014.69"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22636", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023111650"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circresaha.115.303591", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024800202"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circresaha.115.303591", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024800202"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrm3951", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025504416", 
              "https://doi.org/10.1038/nrm3951"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nsmb.2549", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025524527", 
              "https://doi.org/10.1038/nsmb.2549"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gad.207720.112", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030419435"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1242/dev.098392", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030631678"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2013.17", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034367467", 
              "https://doi.org/10.1038/ejhg.2013.17"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neuron.2012.04.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038724905"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2015.26", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039576934", 
              "https://doi.org/10.1038/ejhg.2015.26"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ncomms13316", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044076994", 
              "https://doi.org/10.1038/ncomms13316"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4172/jpb.s2-004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046223629"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1004772", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047990538"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmedgenet-2014-102554", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049641208"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2015.19", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051715222", 
              "https://doi.org/10.1038/ejhg.2015.19"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature13394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052525502", 
              "https://doi.org/10.1038/nature13394"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature21062", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1074194641", 
              "https://doi.org/10.1038/nature21062"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmedgenet-2016-104468", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1079400867"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ccr3.904", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084920971"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ccr3.904", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084920971"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ejmg.2017.06.004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1086116340"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-017-0022-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1092793906", 
              "https://doi.org/10.1038/s41431-017-0022-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41431-017-0022-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1092793906", 
              "https://doi.org/10.1038/s41431-017-0022-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.38536", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1092827037"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-05", 
        "datePublishedReg": "2018-05-01", 
        "description": "Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to \"MED13L haploinsufficiency syndrome.\" Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s10048-018-0541-0", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1117081", 
            "issn": [
              "1364-6745", 
              "1364-6753"
            ], 
            "name": "neurogenetics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "2", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "19"
          }
        ], 
        "name": "MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype", 
        "pagination": "93-103", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "005075998d96751ed17da6b70baa8e8de8e5fc2b30ebefd43cc317881e3ec2c0"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29511999"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "9709714"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s10048-018-0541-0"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1101354833"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s10048-018-0541-0", 
          "https://app.dimensions.ai/details/publication/pub.1101354833"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T10:59", 
        "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/v90/0000000352_0000000352/records_60338_00000003.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1007%2Fs10048-018-0541-0"
      }
    ]
     

    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.10.1007/s10048-018-0541-0'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10048-018-0541-0'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10048-018-0541-0'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10048-018-0541-0'


     

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

    676 TRIPLES      21 PREDICATES      56 URIs      21 LITERALS      9 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s10048-018-0541-0 schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author N2be712cdeddd48e49df5d1533afef519
    4 schema:citation sg:pub.10.1007/s00439-010-0848-x
    5 sg:pub.10.1038/ejhg.2013.17
    6 sg:pub.10.1038/ejhg.2014.69
    7 sg:pub.10.1038/ejhg.2015.19
    8 sg:pub.10.1038/ejhg.2015.26
    9 sg:pub.10.1038/nature13394
    10 sg:pub.10.1038/nature14135
    11 sg:pub.10.1038/nature21062
    12 sg:pub.10.1038/ncomms13316
    13 sg:pub.10.1038/nrm3951
    14 sg:pub.10.1038/nsmb.2549
    15 sg:pub.10.1038/pr.2016.162
    16 sg:pub.10.1038/s41431-017-0022-1
    17 https://doi.org/10.1002/ajmg.a.36183
    18 https://doi.org/10.1002/ajmg.a.38536
    19 https://doi.org/10.1002/ccr3.904
    20 https://doi.org/10.1002/humu.22636
    21 https://doi.org/10.1016/j.ejmg.2017.06.004
    22 https://doi.org/10.1016/j.neuron.2012.04.009
    23 https://doi.org/10.1101/gad.207720.112
    24 https://doi.org/10.1136/jmedgenet-2014-102554
    25 https://doi.org/10.1136/jmedgenet-2016-104468
    26 https://doi.org/10.1161/01.cir.0000103684.77636.cd
    27 https://doi.org/10.1161/circresaha.115.303591
    28 https://doi.org/10.1242/dev.098392
    29 https://doi.org/10.1371/journal.pgen.1004772
    30 https://doi.org/10.4172/jpb.s2-004
    31 schema:datePublished 2018-05
    32 schema:datePublishedReg 2018-05-01
    33 schema:description Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
    34 schema:genre research_article
    35 schema:inLanguage en
    36 schema:isAccessibleForFree true
    37 schema:isPartOf Ncf479f0210874f598e400cb50c8caa20
    38 Nf929760efcca46019c13e1149fd4760e
    39 sg:journal.1117081
    40 schema:name MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
    41 schema:pagination 93-103
    42 schema:productId N0dc7015307c9447dbc17061f8e65ab44
    43 N0e510a6c884a4f688528d63c7364810b
    44 N29989ce929c943b8b595b9b1e2efb786
    45 Na4365fc85c72491ea4a93787a16d7906
    46 Ncd03d9cd419d421e85f669469042c668
    47 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101354833
    48 https://doi.org/10.1007/s10048-018-0541-0
    49 schema:sdDatePublished 2019-04-11T10:59
    50 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    51 schema:sdPublisher Ncb411d52604a4e549a451b1446ccb643
    52 schema:url https://link.springer.com/10.1007%2Fs10048-018-0541-0
    53 sgo:license sg:explorer/license/
    54 sgo:sdDataset articles
    55 rdf:type schema:ScholarlyArticle
    56 N06cf5d06eef5469191cea07bd88d889d schema:affiliation N7b353ae4e3c447d295f1c17ea9acc192
    57 schema:familyName Vieville
    58 schema:givenName G.
    59 rdf:type schema:Person
    60 N06f55bedaa8141febc0b2122e4c16382 rdf:first sg:person.01062551527.73
    61 rdf:rest N842de4aa2dcf4b76b7bb00a8f471efe7
    62 N0a4964fb6985483cb69eb6ca5d38ea3b rdf:first N261b61d2b3a440918496173e19c81bd8
    63 rdf:rest Ndb820be563fa4b90929a443f47a18ddf
    64 N0ac86e1204fa483ca91bb82c24df25aa rdf:first N7a74e021991d40ff9da160ab1eb9c608
    65 rdf:rest N2a2f795e53594fcba0fd497cb28574ec
    66 N0ac8a560794b45f1b57039553b90c5cd schema:affiliation N7048b3f64445456593eea913f3f7f05d
    67 schema:familyName Devillard
    68 schema:givenName F.
    69 rdf:type schema:Person
    70 N0b3b0072638f48179461868cc104e7af rdf:first Nb59839623e9144488d5c6f86e473f5e4
    71 rdf:rest N10fd8e31eece4683af618e5c4d1028ca
    72 N0dc7015307c9447dbc17061f8e65ab44 schema:name doi
    73 schema:value 10.1007/s10048-018-0541-0
    74 rdf:type schema:PropertyValue
    75 N0e510a6c884a4f688528d63c7364810b schema:name nlm_unique_id
    76 schema:value 9709714
    77 rdf:type schema:PropertyValue
    78 N10fd8e31eece4683af618e5c4d1028ca rdf:first sg:person.0600364776.47
    79 rdf:rest Na7d0074cc28b422badd3e0a80c42d5ac
    80 N150252d72bd1402b9c228fe5901b818c schema:affiliation https://www.grid.ac/institutes/grid.411384.b
    81 schema:familyName Steinwall Larsen
    82 schema:givenName S.
    83 rdf:type schema:Person
    84 N15172a0fb383497ead0f569170edf478 rdf:first sg:person.0674535670.11
    85 rdf:rest N06f55bedaa8141febc0b2122e4c16382
    86 N1622446f6e44478d831c746bee3280c8 rdf:first N150252d72bd1402b9c228fe5901b818c
    87 rdf:rest N2f624c6a5fe2469c94f1943745fb171c
    88 N1915a0685a6b41b89193062e7527e1c0 rdf:first sg:person.01111224127.45
    89 rdf:rest Na281bb5f50dd483da78ef2523327107b
    90 N1a2523e5510d4ffab99be16bf07fac72 rdf:first sg:person.0642707313.31
    91 rdf:rest N1ae1304b733e4a86a9dc1af8270db33b
    92 N1ae1304b733e4a86a9dc1af8270db33b rdf:first sg:person.01211771451.18
    93 rdf:rest Na3aa3c644dec475d805e3605b6ca4c81
    94 N20dbe93665614dd7b33c36fe589d068a rdf:first sg:person.013341242500.52
    95 rdf:rest N6a44d6607c17440999f705c682286ed9
    96 N22eaa1cc12a04c53967552612177f99f schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    97 schema:familyName Nesbitt
    98 schema:givenName A.
    99 rdf:type schema:Person
    100 N234c2075783b4bb6b37d8691c0ba9741 rdf:first sg:person.01212677312.94
    101 rdf:rest N406c7570bb7848b095f5697446fa0638
    102 N24aa7c00f199460b9c1b6e27931e27d9 rdf:first sg:person.0614006414.84
    103 rdf:rest N7c149c70d00540d6b2ffbcfb1145cf75
    104 N261b61d2b3a440918496173e19c81bd8 schema:affiliation https://www.grid.ac/institutes/grid.411147.6
    105 schema:familyName Ziegler
    106 schema:givenName A.
    107 rdf:type schema:Person
    108 N262ab2f52ddc410f978b9d1ea1209315 rdf:first sg:person.0732065540.48
    109 rdf:rest N1a2523e5510d4ffab99be16bf07fac72
    110 N29989ce929c943b8b595b9b1e2efb786 schema:name pubmed_id
    111 schema:value 29511999
    112 rdf:type schema:PropertyValue
    113 N2a2f795e53594fcba0fd497cb28574ec rdf:first sg:person.012243753401.96
    114 rdf:rest Nb1c3e5bdfa2e41629cf75360203b1c52
    115 N2b2cf2cf1ce446dc96307cc899fe2aca schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    116 schema:familyName Mignot
    117 schema:givenName C.
    118 rdf:type schema:Person
    119 N2be712cdeddd48e49df5d1533afef519 rdf:first sg:person.01233237147.44
    120 rdf:rest N8b3d41a86ef04a14a7a0bbcf9a54b88a
    121 N2f624c6a5fe2469c94f1943745fb171c rdf:first sg:person.01251022351.30
    122 rdf:rest N483e97fdcb914880adad4c12bdee2ddd
    123 N31e15e0b444d43ee9fb8400b840d452c rdf:first sg:person.0647120641.77
    124 rdf:rest Nc14799758a2c45139594f2b3fb772809
    125 N33ea919d8e32490889d264a8bf1b3b9e rdf:first N369739abd4d34c6a87dce66c7d73a08d
    126 rdf:rest Nd4ebb56c9137445ab93e8845947618b9
    127 N348787158cdb4de49b40d00780ed49e3 rdf:first N22eaa1cc12a04c53967552612177f99f
    128 rdf:rest N3bcb971f98f647af8f58c68ac04b3d47
    129 N369739abd4d34c6a87dce66c7d73a08d schema:affiliation https://www.grid.ac/institutes/grid.157868.5
    130 schema:familyName Willems
    131 schema:givenName M.
    132 rdf:type schema:Person
    133 N39d67116712d49bc9bbc8ededc34f093 schema:affiliation Nf5c7a55783694bda8e95b55d88f7b74c
    134 schema:familyName Field
    135 schema:givenName M.
    136 rdf:type schema:Person
    137 N3bcb971f98f647af8f58c68ac04b3d47 rdf:first Ncbba4436c6754c26977fb4a8b02da266
    138 rdf:rest N1915a0685a6b41b89193062e7527e1c0
    139 N406c7570bb7848b095f5697446fa0638 rdf:first sg:person.015113012507.51
    140 rdf:rest N0ac86e1204fa483ca91bb82c24df25aa
    141 N46a4dc1049284dd9b23a6f6d044b9fe6 rdf:first Nd2607906c3ee4517823377ca0a986efb
    142 rdf:rest N8bd046aea654455b9c6a02d107797f8d
    143 N483e97fdcb914880adad4c12bdee2ddd rdf:first sg:person.0602102312.97
    144 rdf:rest N20dbe93665614dd7b33c36fe589d068a
    145 N4d1a22e616c94bf6849ef98915c0ceb7 rdf:first sg:person.07704062641.70
    146 rdf:rest Nde1187186b704193b2099f7d9df776c2
    147 N4e3d01398599491b9c7c582c9cd8d7d9 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    148 schema:familyName Whalen
    149 schema:givenName S.
    150 rdf:type schema:Person
    151 N4f53ec6322a447efbc7aac559b320094 rdf:first sg:person.0623201231.71
    152 rdf:rest rdf:nil
    153 N523e9840f4304085957bf1a73aa3b8ab schema:affiliation https://www.grid.ac/institutes/grid.411384.b
    154 schema:familyName Green
    155 schema:givenName A. K.
    156 rdf:type schema:Person
    157 N5eedd220d7b24d5692adb84d38d9ad7c schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    158 schema:familyName Heron
    159 schema:givenName D.
    160 rdf:type schema:Person
    161 N60fada27d08b476b8543ff0e317e09f0 schema:affiliation https://www.grid.ac/institutes/grid.157868.5
    162 schema:familyName Genevieve
    163 schema:givenName D.
    164 rdf:type schema:Person
    165 N67f5e42aa0cb43fe8dca8f17cc50b81c rdf:first N5eedd220d7b24d5692adb84d38d9ad7c
    166 rdf:rest N9271b0cc6eb24843a3c0b5c96541c184
    167 N69f4a4c540b7451c82a58f9018b80230 rdf:first N0ac8a560794b45f1b57039553b90c5cd
    168 rdf:rest Ncfaa4459142241ab9a18e8bb93090b9b
    169 N6a44d6607c17440999f705c682286ed9 rdf:first sg:person.01101231156.98
    170 rdf:rest Ndc15563b51cb4c5cb884f813bc604f1d
    171 N6e0b0cc21fde4df39360398f6d38e971 rdf:first N72d09df6755f450796ac1b135345c672
    172 rdf:rest Nb3ca7ca637ae4c89bdc7a8c4433e4069
    173 N6ea6e9cc905a4e458e530f85c038364b rdf:first sg:person.013121461427.35
    174 rdf:rest N77b86fd0e9e640d7ae7d91b80e316ede
    175 N7048b3f64445456593eea913f3f7f05d schema:name Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France
    176 rdf:type schema:Organization
    177 N72d09df6755f450796ac1b135345c672 schema:affiliation https://www.grid.ac/institutes/grid.412220.7
    178 schema:familyName Piton
    179 schema:givenName A.
    180 rdf:type schema:Person
    181 N77b86fd0e9e640d7ae7d91b80e316ede rdf:first N39d67116712d49bc9bbc8ededc34f093
    182 rdf:rest N46a4dc1049284dd9b23a6f6d044b9fe6
    183 N7a74e021991d40ff9da160ab1eb9c608 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    184 schema:familyName Li
    185 schema:givenName D.
    186 rdf:type schema:Person
    187 N7b353ae4e3c447d295f1c17ea9acc192 schema:name Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France
    188 rdf:type schema:Organization
    189 N7c149c70d00540d6b2ffbcfb1145cf75 rdf:first Nf0aafe2ec8e149119dd918734e64dc3f
    190 rdf:rest N69f4a4c540b7451c82a58f9018b80230
    191 N842de4aa2dcf4b76b7bb00a8f471efe7 rdf:first Nef602a6772fd4441a657f81f714ecf40
    192 rdf:rest N4d1a22e616c94bf6849ef98915c0ceb7
    193 N8b3d41a86ef04a14a7a0bbcf9a54b88a rdf:first sg:person.01071175547.04
    194 rdf:rest N6e0b0cc21fde4df39360398f6d38e971
    195 N8bd046aea654455b9c6a02d107797f8d rdf:first sg:person.01311063035.77
    196 rdf:rest Nba694c30cb8e4988bebafd9b23b36153
    197 N8cdc17c8ca384cfa9f1dba9a8fe0b487 rdf:first sg:person.01222211250.01
    198 rdf:rest N262ab2f52ddc410f978b9d1ea1209315
    199 N8e81603a31ff4a2a91d232a619df30ed rdf:first sg:person.0604613467.14
    200 rdf:rest Nbbbc09746769486aadccfbe64ed97f8d
    201 N9132200a4648421c93f5ad2c6c659b28 rdf:first sg:person.01237661366.90
    202 rdf:rest N6ea6e9cc905a4e458e530f85c038364b
    203 N9271b0cc6eb24843a3c0b5c96541c184 rdf:first sg:person.0727401070.60
    204 rdf:rest Nfdb874c289e54bb9abd107252e3a025d
    205 N941e888fa33f430681f3e60823c694ff rdf:first sg:person.01303310021.15
    206 rdf:rest Nb801b6e209ad4485b5e3f7fe89b2ad33
    207 N94ae5320674b409c9e9ab26f215d40c7 schema:affiliation https://www.grid.ac/institutes/grid.412220.7
    208 schema:familyName Gerard
    209 schema:givenName B.
    210 rdf:type schema:Person
    211 N9fb225821f4a42c4bfc63a960f0e070f schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    212 schema:familyName Wenzel
    213 schema:givenName M.
    214 rdf:type schema:Person
    215 Na281bb5f50dd483da78ef2523327107b rdf:first sg:person.0776676014.12
    216 rdf:rest N0b3b0072638f48179461868cc104e7af
    217 Na3aa3c644dec475d805e3605b6ca4c81 rdf:first sg:person.01300034312.56
    218 rdf:rest N31e15e0b444d43ee9fb8400b840d452c
    219 Na4365fc85c72491ea4a93787a16d7906 schema:name readcube_id
    220 schema:value 005075998d96751ed17da6b70baa8e8de8e5fc2b30ebefd43cc317881e3ec2c0
    221 rdf:type schema:PropertyValue
    222 Na7d0074cc28b422badd3e0a80c42d5ac rdf:first sg:person.01316705543.32
    223 rdf:rest N1622446f6e44478d831c746bee3280c8
    224 Naf0cf538e8554c1dae6ad004605a0394 rdf:first sg:person.0660663125.42
    225 rdf:rest Nd89ed2e031374c828236987e65f0036c
    226 Naf5b246223b24abca3c26521763d3710 rdf:first N523e9840f4304085957bf1a73aa3b8ab
    227 rdf:rest Nec3f4308ec3f4c11b4b14e3a5d59e63c
    228 Nb1c3e5bdfa2e41629cf75360203b1c52 rdf:first N2b2cf2cf1ce446dc96307cc899fe2aca
    229 rdf:rest Nda9b6de9e0384dc5ae8493655205ed42
    230 Nb3ca7ca637ae4c89bdc7a8c4433e4069 rdf:first sg:person.0637373204.82
    231 rdf:rest N15172a0fb383497ead0f569170edf478
    232 Nb59839623e9144488d5c6f86e473f5e4 schema:affiliation Ne9c69f9e51334d648933d936fb90f2ff
    233 schema:familyName Satre
    234 schema:givenName V.
    235 rdf:type schema:Person
    236 Nb801b6e209ad4485b5e3f7fe89b2ad33 rdf:first N94ae5320674b409c9e9ab26f215d40c7
    237 rdf:rest N4f53ec6322a447efbc7aac559b320094
    238 Nba694c30cb8e4988bebafd9b23b36153 rdf:first N60fada27d08b476b8543ff0e317e09f0
    239 rdf:rest Nbd8cd9d1724f447a97313f225f363d0f
    240 Nbbbc09746769486aadccfbe64ed97f8d rdf:first sg:person.01362547137.32
    241 rdf:rest Nbd6ce3a3ad7e4be8b63351496530e814
    242 Nbd6ce3a3ad7e4be8b63351496530e814 rdf:first sg:person.01176011411.01
    243 rdf:rest N234c2075783b4bb6b37d8691c0ba9741
    244 Nbd8cd9d1724f447a97313f225f363d0f rdf:first sg:person.01350765060.07
    245 rdf:rest Nc0b24984144e4a8bb1018a6f40a1308a
    246 Nc0b24984144e4a8bb1018a6f40a1308a rdf:first sg:person.01275047145.30
    247 rdf:rest Naf5b246223b24abca3c26521763d3710
    248 Nc14799758a2c45139594f2b3fb772809 rdf:first sg:person.011753732413.16
    249 rdf:rest N24aa7c00f199460b9c1b6e27931e27d9
    250 Nca7cfd2cc570496c93f6507c0e9c7c13 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    251 schema:familyName Nava
    252 schema:givenName C.
    253 rdf:type schema:Person
    254 Ncb411d52604a4e549a451b1446ccb643 schema:name Springer Nature - SN SciGraph project
    255 rdf:type schema:Organization
    256 Ncbba4436c6754c26977fb4a8b02da266 schema:affiliation https://www.grid.ac/institutes/grid.41724.34
    257 schema:familyName Nicolas
    258 schema:givenName G.
    259 rdf:type schema:Person
    260 Ncd03d9cd419d421e85f669469042c668 schema:name dimensions_id
    261 schema:value pub.1101354833
    262 rdf:type schema:PropertyValue
    263 Ncf479f0210874f598e400cb50c8caa20 schema:issueNumber 2
    264 rdf:type schema:PublicationIssue
    265 Ncfaa4459142241ab9a18e8bb93090b9b rdf:first sg:person.0712633320.14
    266 rdf:rest Naf0cf538e8554c1dae6ad004605a0394
    267 Nd2607906c3ee4517823377ca0a986efb schema:affiliation https://www.grid.ac/institutes/grid.412220.7
    268 schema:familyName Fournier
    269 schema:givenName C.
    270 rdf:type schema:Person
    271 Nd4ebb56c9137445ab93e8845947618b9 rdf:first N4e3d01398599491b9c7c582c9cd8d7d9
    272 rdf:rest Nefbb0e82d30c4160a0d51515c453f2e1
    273 Nd89ed2e031374c828236987e65f0036c rdf:first sg:person.01264265643.34
    274 rdf:rest N9132200a4648421c93f5ad2c6c659b28
    275 Nda9b6de9e0384dc5ae8493655205ed42 rdf:first Nca7cfd2cc570496c93f6507c0e9c7c13
    276 rdf:rest N348787158cdb4de49b40d00780ed49e3
    277 Ndb820be563fa4b90929a443f47a18ddf rdf:first sg:person.01167413553.78
    278 rdf:rest N941e888fa33f430681f3e60823c694ff
    279 Ndc15563b51cb4c5cb884f813bc604f1d rdf:first N06cf5d06eef5469191cea07bd88d889d
    280 rdf:rest Nfe0fe7f5d99d405184a6a5d836cb6eab
    281 Nde1187186b704193b2099f7d9df776c2 rdf:first sg:person.01112225651.32
    282 rdf:rest N8cdc17c8ca384cfa9f1dba9a8fe0b487
    283 Ndf628f0c7eda410ca4c5d894e1ee4b8e schema:name Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France
    284 rdf:type schema:Organization
    285 Ne9c69f9e51334d648933d936fb90f2ff schema:name Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France
    286 rdf:type schema:Organization
    287 Nec3f4308ec3f4c11b4b14e3a5d59e63c rdf:first sg:person.01161367275.15
    288 rdf:rest N67f5e42aa0cb43fe8dca8f17cc50b81c
    289 Nef602a6772fd4441a657f81f714ecf40 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    290 schema:familyName Baker
    291 schema:givenName S.
    292 rdf:type schema:Person
    293 Nefbb0e82d30c4160a0d51515c453f2e1 rdf:first sg:person.01257371533.18
    294 rdf:rest N0a4964fb6985483cb69eb6ca5d38ea3b
    295 Nf0aafe2ec8e149119dd918734e64dc3f schema:affiliation Ndf628f0c7eda410ca4c5d894e1ee4b8e
    296 schema:familyName Coutton
    297 schema:givenName C.
    298 rdf:type schema:Person
    299 Nf5c7a55783694bda8e95b55d88f7b74c schema:name The Genetics of Learning Disability Service, Waratah, New South Wales, Australia
    300 rdf:type schema:Organization
    301 Nf929760efcca46019c13e1149fd4760e schema:volumeNumber 19
    302 rdf:type schema:PublicationVolume
    303 Nfdb874c289e54bb9abd107252e3a025d rdf:first sg:person.01204151231.20
    304 rdf:rest N8e81603a31ff4a2a91d232a619df30ed
    305 Nfe0fe7f5d99d405184a6a5d836cb6eab rdf:first N9fb225821f4a42c4bfc63a960f0e070f
    306 rdf:rest N33ea919d8e32490889d264a8bf1b3b9e
    307 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    308 schema:name Biological Sciences
    309 rdf:type schema:DefinedTerm
    310 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    311 schema:name Genetics
    312 rdf:type schema:DefinedTerm
    313 sg:journal.1117081 schema:issn 1364-6745
    314 1364-6753
    315 schema:name neurogenetics
    316 rdf:type schema:Periodical
    317 sg:person.01062551527.73 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
    318 schema:familyName Afenjar
    319 schema:givenName A.
    320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062551527.73
    321 rdf:type schema:Person
    322 sg:person.01071175547.04 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    323 schema:familyName Petit
    324 schema:givenName F.
    325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071175547.04
    326 rdf:type schema:Person
    327 sg:person.01101231156.98 schema:affiliation https://www.grid.ac/institutes/grid.413235.2
    328 schema:familyName Verloes
    329 schema:givenName A.
    330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101231156.98
    331 rdf:type schema:Person
    332 sg:person.01111224127.45 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    333 schema:familyName Roche-Lestienne
    334 schema:givenName C.
    335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111224127.45
    336 rdf:type schema:Person
    337 sg:person.01112225651.32 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    338 schema:familyName Bhoj
    339 schema:givenName E. J.
    340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112225651.32
    341 rdf:type schema:Person
    342 sg:person.01161367275.15 schema:affiliation https://www.grid.ac/institutes/grid.41724.34
    343 schema:familyName Guerrot
    344 schema:givenName A. M.
    345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161367275.15
    346 rdf:type schema:Person
    347 sg:person.01167413553.78 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    348 schema:familyName Manouvrier-Hanu
    349 schema:givenName S.
    350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167413553.78
    351 rdf:type schema:Person
    352 sg:person.011753732413.16 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    353 schema:familyName Colson
    354 schema:givenName C.
    355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011753732413.16
    356 rdf:type schema:Person
    357 sg:person.01176011411.01 schema:affiliation https://www.grid.ac/institutes/grid.411477.0
    358 schema:familyName Lapi
    359 schema:givenName E.
    360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176011411.01
    361 rdf:type schema:Person
    362 sg:person.01204151231.20 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    363 schema:familyName Keena
    364 schema:givenName B. A.
    365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204151231.20
    366 rdf:type schema:Person
    367 sg:person.01211771451.18 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    368 schema:familyName Boute-Benejean
    369 schema:givenName O.
    370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211771451.18
    371 rdf:type schema:Person
    372 sg:person.01212677312.94 schema:affiliation https://www.grid.ac/institutes/grid.41724.34
    373 schema:familyName Le Meur
    374 schema:givenName N.
    375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212677312.94
    376 rdf:type schema:Person
    377 sg:person.01222211250.01 schema:affiliation https://www.grid.ac/institutes/grid.411147.6
    378 schema:familyName Bonneau
    379 schema:givenName D.
    380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222211250.01
    381 rdf:type schema:Person
    382 sg:person.012243753401.96 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    383 schema:familyName Marey
    384 schema:givenName I.
    385 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012243753401.96
    386 rdf:type schema:Person
    387 sg:person.01233237147.44 schema:affiliation https://www.grid.ac/institutes/grid.4461.7
    388 schema:familyName Smol
    389 schema:givenName T.
    390 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233237147.44
    391 rdf:type schema:Person
    392 sg:person.01237661366.90 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
    393 schema:familyName Faivre
    394 schema:givenName L.
    395 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90
    396 rdf:type schema:Person
    397 sg:person.01251022351.30 schema:affiliation https://www.grid.ac/institutes/grid.41724.34
    398 schema:familyName Saugier-Veber
    399 schema:givenName P.
    400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251022351.30
    401 rdf:type schema:Person
    402 sg:person.01257371533.18 schema:affiliation https://www.grid.ac/institutes/grid.241054.6
    403 schema:familyName Zarate
    404 schema:givenName Y. A.
    405 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257371533.18
    406 rdf:type schema:Person
    407 sg:person.01264265643.34 schema:affiliation https://www.grid.ac/institutes/grid.1005.4
    408 schema:familyName Ewans
    409 schema:givenName L. J.
    410 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264265643.34
    411 rdf:type schema:Person
    412 sg:person.01275047145.30 schema:affiliation https://www.grid.ac/institutes/grid.41724.34
    413 schema:familyName Goldenberg
    414 schema:givenName A.
    415 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275047145.30
    416 rdf:type schema:Person
    417 sg:person.01300034312.56 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    418 schema:familyName Caumes
    419 schema:givenName R.
    420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300034312.56
    421 rdf:type schema:Person
    422 sg:person.01303310021.15 schema:affiliation https://www.grid.ac/institutes/grid.419538.2
    423 schema:familyName Kalscheuer
    424 schema:givenName V. M.
    425 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303310021.15
    426 rdf:type schema:Person
    427 sg:person.01311063035.77 schema:affiliation https://www.grid.ac/institutes/grid.411163.0
    428 schema:familyName Francannet
    429 schema:givenName C.
    430 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311063035.77
    431 rdf:type schema:Person
    432 sg:person.013121461427.35 schema:affiliation https://www.grid.ac/institutes/grid.4367.6
    433 schema:familyName Fassi
    434 schema:givenName E.
    435 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013121461427.35
    436 rdf:type schema:Person
    437 sg:person.01316705543.32 schema:affiliation https://www.grid.ac/institutes/grid.411384.b
    438 schema:familyName Stefanova
    439 schema:givenName M.
    440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316705543.32
    441 rdf:type schema:Person
    442 sg:person.013341242500.52 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    443 schema:familyName Thuillier
    444 schema:givenName C.
    445 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013341242500.52
    446 rdf:type schema:Person
    447 sg:person.01350765060.07 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
    448 schema:familyName Giurgea
    449 schema:givenName I.
    450 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350765060.07
    451 rdf:type schema:Person
    452 sg:person.01362547137.32 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
    453 schema:familyName Kuentz
    454 schema:givenName P.
    455 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362547137.32
    456 rdf:type schema:Person
    457 sg:person.015113012507.51 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
    458 schema:familyName Lesca
    459 schema:givenName G.
    460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015113012507.51
    461 rdf:type schema:Person
    462 sg:person.0600364776.47 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    463 schema:familyName Santani
    464 schema:givenName A.
    465 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600364776.47
    466 rdf:type schema:Person
    467 sg:person.0602102312.97 schema:affiliation https://www.grid.ac/institutes/grid.6363.0
    468 schema:familyName Picker-Minh
    469 schema:givenName S.
    470 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602102312.97
    471 rdf:type schema:Person
    472 sg:person.0604613467.14 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    473 schema:familyName Krock
    474 schema:givenName B. L.
    475 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604613467.14
    476 rdf:type schema:Person
    477 sg:person.0614006414.84 schema:affiliation https://www.grid.ac/institutes/grid.157868.5
    478 schema:familyName Coubes
    479 schema:givenName C.
    480 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614006414.84
    481 rdf:type schema:Person
    482 sg:person.0623201231.71 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    483 schema:familyName Ghoumid
    484 schema:givenName Jamal
    485 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623201231.71
    486 rdf:type schema:Person
    487 sg:person.0637373204.82 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
    488 schema:familyName Keren
    489 schema:givenName B.
    490 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637373204.82
    491 rdf:type schema:Person
    492 sg:person.0642707313.31 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    493 schema:familyName Bouquillon
    494 schema:givenName S.
    495 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642707313.31
    496 rdf:type schema:Person
    497 sg:person.0647120641.77 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
    498 schema:familyName Chatron
    499 schema:givenName N.
    500 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647120641.77
    501 rdf:type schema:Person
    502 sg:person.0660663125.42 schema:affiliation https://www.grid.ac/institutes/grid.139510.f
    503 schema:familyName Doco-Fenzy
    504 schema:givenName M.
    505 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0660663125.42
    506 rdf:type schema:Person
    507 sg:person.0674535670.11 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
    508 schema:familyName Sanlaville
    509 schema:givenName D.
    510 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674535670.11
    511 rdf:type schema:Person
    512 sg:person.0712633320.14 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    513 schema:familyName Dieux-Coeslier
    514 schema:givenName A.
    515 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712633320.14
    516 rdf:type schema:Person
    517 sg:person.0727401070.60 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
    518 schema:familyName Isidor
    519 schema:givenName B.
    520 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727401070.60
    521 rdf:type schema:Person
    522 sg:person.0732065540.48 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
    523 schema:familyName Boudry-Labis
    524 schema:givenName E.
    525 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0732065540.48
    526 rdf:type schema:Person
    527 sg:person.07704062641.70 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
    528 schema:familyName Bedoukian
    529 schema:givenName E. C.
    530 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07704062641.70
    531 rdf:type schema:Person
    532 sg:person.0776676014.12 schema:affiliation https://www.grid.ac/institutes/grid.1005.4
    533 schema:familyName Roscioli
    534 schema:givenName T.
    535 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776676014.12
    536 rdf:type schema:Person
    537 sg:pub.10.1007/s00439-010-0848-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1016870851
    538 https://doi.org/10.1007/s00439-010-0848-x
    539 rdf:type schema:CreativeWork
    540 sg:pub.10.1038/ejhg.2013.17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034367467
    541 https://doi.org/10.1038/ejhg.2013.17
    542 rdf:type schema:CreativeWork
    543 sg:pub.10.1038/ejhg.2014.69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021991513
    544 https://doi.org/10.1038/ejhg.2014.69
    545 rdf:type schema:CreativeWork
    546 sg:pub.10.1038/ejhg.2015.19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051715222
    547 https://doi.org/10.1038/ejhg.2015.19
    548 rdf:type schema:CreativeWork
    549 sg:pub.10.1038/ejhg.2015.26 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039576934
    550 https://doi.org/10.1038/ejhg.2015.26
    551 rdf:type schema:CreativeWork
    552 sg:pub.10.1038/nature13394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052525502
    553 https://doi.org/10.1038/nature13394
    554 rdf:type schema:CreativeWork
    555 sg:pub.10.1038/nature14135 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007784461
    556 https://doi.org/10.1038/nature14135
    557 rdf:type schema:CreativeWork
    558 sg:pub.10.1038/nature21062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074194641
    559 https://doi.org/10.1038/nature21062
    560 rdf:type schema:CreativeWork
    561 sg:pub.10.1038/ncomms13316 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044076994
    562 https://doi.org/10.1038/ncomms13316
    563 rdf:type schema:CreativeWork
    564 sg:pub.10.1038/nrm3951 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025504416
    565 https://doi.org/10.1038/nrm3951
    566 rdf:type schema:CreativeWork
    567 sg:pub.10.1038/nsmb.2549 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025524527
    568 https://doi.org/10.1038/nsmb.2549
    569 rdf:type schema:CreativeWork
    570 sg:pub.10.1038/pr.2016.162 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018801044
    571 https://doi.org/10.1038/pr.2016.162
    572 rdf:type schema:CreativeWork
    573 sg:pub.10.1038/s41431-017-0022-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092793906
    574 https://doi.org/10.1038/s41431-017-0022-1
    575 rdf:type schema:CreativeWork
    576 https://doi.org/10.1002/ajmg.a.36183 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002307957
    577 rdf:type schema:CreativeWork
    578 https://doi.org/10.1002/ajmg.a.38536 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092827037
    579 rdf:type schema:CreativeWork
    580 https://doi.org/10.1002/ccr3.904 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084920971
    581 rdf:type schema:CreativeWork
    582 https://doi.org/10.1002/humu.22636 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023111650
    583 rdf:type schema:CreativeWork
    584 https://doi.org/10.1016/j.ejmg.2017.06.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086116340
    585 rdf:type schema:CreativeWork
    586 https://doi.org/10.1016/j.neuron.2012.04.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038724905
    587 rdf:type schema:CreativeWork
    588 https://doi.org/10.1101/gad.207720.112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030419435
    589 rdf:type schema:CreativeWork
    590 https://doi.org/10.1136/jmedgenet-2014-102554 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049641208
    591 rdf:type schema:CreativeWork
    592 https://doi.org/10.1136/jmedgenet-2016-104468 schema:sameAs https://app.dimensions.ai/details/publication/pub.1079400867
    593 rdf:type schema:CreativeWork
    594 https://doi.org/10.1161/01.cir.0000103684.77636.cd schema:sameAs https://app.dimensions.ai/details/publication/pub.1005135589
    595 rdf:type schema:CreativeWork
    596 https://doi.org/10.1161/circresaha.115.303591 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024800202
    597 rdf:type schema:CreativeWork
    598 https://doi.org/10.1242/dev.098392 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030631678
    599 rdf:type schema:CreativeWork
    600 https://doi.org/10.1371/journal.pgen.1004772 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047990538
    601 rdf:type schema:CreativeWork
    602 https://doi.org/10.4172/jpb.s2-004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046223629
    603 rdf:type schema:CreativeWork
    604 https://www.grid.ac/institutes/grid.1005.4 schema:alternateName UNSW Australia
    605 schema:name St Vincent’s Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia
    606 rdf:type schema:Organization
    607 https://www.grid.ac/institutes/grid.139510.f schema:alternateName Centre Hospitalier Universitaire De Reims
    608 schema:name Service de Génétique, EA3801, SFR-CAP Santé, CHU de Reims, Reims, France
    609 rdf:type schema:Organization
    610 https://www.grid.ac/institutes/grid.157868.5 schema:alternateName University Hospital of Montpellier
    611 schema:name Département de Génétique Médicale, CHU Montpellier, Montpellier, France
    612 rdf:type schema:Organization
    613 https://www.grid.ac/institutes/grid.239552.a schema:alternateName Children's Hospital of Philadelphia
    614 schema:name Clinical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
    615 Department of Pathology Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
    616 Roberts Individualized Medical Genetics Center, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
    617 rdf:type schema:Organization
    618 https://www.grid.ac/institutes/grid.241054.6 schema:alternateName University of Arkansas for Medical Sciences
    619 schema:name Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA
    620 rdf:type schema:Organization
    621 https://www.grid.ac/institutes/grid.277151.7 schema:alternateName Centre Hospitalier Universitaire de Nantes
    622 schema:name Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France
    623 rdf:type schema:Organization
    624 https://www.grid.ac/institutes/grid.411147.6 schema:alternateName Centre Hospitalier Universitaire de Angers
    625 schema:name Service de Génétique, CHU d’Angers, Angers, France
    626 rdf:type schema:Organization
    627 https://www.grid.ac/institutes/grid.411163.0 schema:alternateName Centre Hospitalier Universitaire de Clermont-Ferrand
    628 schema:name Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France
    629 rdf:type schema:Organization
    630 https://www.grid.ac/institutes/grid.411384.b schema:alternateName Linköping University Hospital
    631 schema:name Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden
    632 rdf:type schema:Organization
    633 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
    634 schema:name Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France
    635 rdf:type schema:Organization
    636 https://www.grid.ac/institutes/grid.411477.0 schema:alternateName Azienda Ospedaliera Universitaria Senese
    637 schema:name Medical Genetics Unit, Anna Meyer Children’s University Hospital, Florence, Italy
    638 rdf:type schema:Organization
    639 https://www.grid.ac/institutes/grid.412220.7 schema:alternateName Hôpitaux Universitaires de Strasbourg
    640 schema:name Laboratoire de diagnostic génétique, Institut de Génétique Médicale d’Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    641 rdf:type schema:Organization
    642 https://www.grid.ac/institutes/grid.413235.2 schema:alternateName Hôpital Robert Debré
    643 schema:name Unité Fonctionnelle de Génétique Clinique, Hôpital Robert Debré, AP-HP, Paris, France
    644 rdf:type schema:Organization
    645 https://www.grid.ac/institutes/grid.413776.0 schema:alternateName Hôpital Armand Trousseau
    646 schema:name Service de Génétique, Hôpital Trousseau, AP-HP, Paris, France
    647 Service de Génétique, Hôpital d’Enfants Armand-Trousseau, AP-HP, Paris, France
    648 rdf:type schema:Organization
    649 https://www.grid.ac/institutes/grid.413852.9 schema:alternateName Hospices Civils de Lyon
    650 schema:name Service de Génétique, Hospices Civils de Lyon, Lyon, France
    651 rdf:type schema:Organization
    652 https://www.grid.ac/institutes/grid.414184.c schema:alternateName Hôpital Jeanne de Flandre
    653 schema:name Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France
    654 Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France
    655 University of Lille, EA 7364-RADEME, Lille, France
    656 rdf:type schema:Organization
    657 https://www.grid.ac/institutes/grid.41724.34 schema:alternateName Centre Hospitalier Universitaire De Rouen
    658 schema:name Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France
    659 rdf:type schema:Organization
    660 https://www.grid.ac/institutes/grid.419538.2 schema:alternateName Max Planck Institute for Molecular Genetics
    661 schema:name Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany
    662 rdf:type schema:Organization
    663 https://www.grid.ac/institutes/grid.4367.6 schema:alternateName Washington University in St. Louis
    664 schema:name Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA
    665 rdf:type schema:Organization
    666 https://www.grid.ac/institutes/grid.4461.7 schema:alternateName Lille 1 University
    667 schema:name Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France
    668 University of Lille, EA 7364-RADEME, Lille, France
    669 rdf:type schema:Organization
    670 https://www.grid.ac/institutes/grid.5613.1 schema:alternateName University of Burgundy
    671 schema:name Centre de Génétique et Centre de Référence Maladies Rares ‘Anomalies du Développement, CHU Dijon, Dijon, France
    672 Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France
    673 rdf:type schema:Organization
    674 https://www.grid.ac/institutes/grid.6363.0 schema:alternateName Charité
    675 schema:name Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany
    676 rdf:type schema:Organization
     




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


    ...