Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J. M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

ABSTRACT

PURPOSE: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. METHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. RESULTS: The number of rare likely deleterious variants in functionally intolerant genes ("other hits") correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with their carrier family members. Probands with 16p12.1 deletion and a strong family history presented more severe clinical features (p=0.04) and higher burden of other hits compared with those with mild/no family history (p=0.001). The number of other hits also correlated with severity of cognitive impairment in probands carrying pathogenic CNVs (n=53) or de novo pathogenic variants in disease genes (n=290), and negatively correlated with head size among 80 probands with 16p11.2 deletion. These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes. CONCLUSION: Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified. More... »

PAGES

816-825

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-018-0266-3

DOI

http://dx.doi.org/10.1038/s41436-018-0266-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106707804

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30190612


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": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pizzo", 
        "givenName": "Lucilla", 
        "id": "sg:person.01161776022.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161776022.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jensen", 
        "givenName": "Matthew", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "St. George's University", 
          "id": "https://www.grid.ac/institutes/grid.412748.c", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA", 
            "St. George\u2019s University School of Medicine, True Blue Point, Grenada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Polyak", 
        "givenName": "Andrew", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rosenfeld", 
        "givenName": "Jill A.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tartu", 
          "id": "https://www.grid.ac/institutes/grid.10939.32", 
          "name": [
            "Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland", 
            "Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mannik", 
        "givenName": "Katrin", 
        "id": "sg:person.0677425160.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677425160.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Michigan State University", 
          "id": "https://www.grid.ac/institutes/grid.17088.36", 
          "name": [
            "Department of Computational Mathematics, Science and Engineering, Michigan State University, East Lansing, MI, USA", 
            "Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krishnan", 
        "givenName": "Arjun", 
        "id": "sg:person.01350742712.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350742712.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McMaster University", 
          "id": "https://www.grid.ac/institutes/grid.25073.33", 
          "name": [
            "Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McCready", 
        "givenName": "Elizabeth", 
        "id": "sg:person.015462574027.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015462574027.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pichon", 
        "givenName": "Olivier", 
        "id": "sg:person.01300753613.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300753613.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "D\u00e9l\u00e9gation Grand-Ouest", 
          "id": "https://www.grid.ac/institutes/grid.457374.6", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France", 
            "INSERM, UMR1238, Bone sarcoma and remodeling of calcified tissue, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Le Caignec", 
        "givenName": "Cedric", 
        "id": "sg:person.01072007737.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072007737.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Antwerp University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411414.5", 
          "name": [
            "Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Van Dijck", 
        "givenName": "Anke", 
        "id": "sg:person.01267333714.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267333714.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Department of Paediatrics, Royal Children\u2019s Hospital, Murdoch Children\u2019s Research Institute and University of Melbourne, Melbourne, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pope", 
        "givenName": "Kate", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Voorhoeve", 
        "givenName": "Els", 
        "id": "sg:person.01203124155.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203124155.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yoon", 
        "givenName": "Jieun", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stankiewicz", 
        "givenName": "Pawe\u0142", 
        "id": "sg:person.014235161777.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235161777.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cheung", 
        "givenName": "Sau Wai", 
        "id": "sg:person.01051432631.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051432631.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pazuchanics", 
        "givenName": "Damian", 
        "id": "sg:person.015007463164.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015007463164.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Huber", 
        "givenName": "Emily", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kumar", 
        "givenName": "Vijay", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Pennsylvania", 
          "id": "https://www.grid.ac/institutes/grid.25879.31", 
          "name": [
            "Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kember", 
        "givenName": "Rachel L.", 
        "id": "sg:person.01162120442.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162120442.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Azienda Ospedaliera Universitaria Senese", 
          "id": "https://www.grid.ac/institutes/grid.411477.0", 
          "name": [
            "Medical Genetics, University of Siena, Siena, Italy", 
            "Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mari", 
        "givenName": "Francesca", 
        "id": "sg:person.01055270604.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055270604.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Azienda Ospedaliera Universitaria Senese", 
          "id": "https://www.grid.ac/institutes/grid.411477.0", 
          "name": [
            "Medical Genetics, University of Siena, Siena, Italy", 
            "Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Curr\u00f3", 
        "givenName": "Aurora", 
        "id": "sg:person.011272313764.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011272313764.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Oasi Research Institute\u2013IRCCS, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Castiglia", 
        "givenName": "Lucia", 
        "id": "sg:person.01101124603.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101124603.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Oasi Research Institute\u2013IRCCS, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Galesi", 
        "givenName": "Ornella", 
        "id": "sg:person.01354710230.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354710230.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Oasi Research Institute\u2013IRCCS, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Avola", 
        "givenName": "Emanuela", 
        "id": "sg:person.0613617450.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0613617450.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Catania", 
          "id": "https://www.grid.ac/institutes/grid.8158.4", 
          "name": [
            "Medical Genetics, University of Catania School of Medicine, Catania, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mattina", 
        "givenName": "Teresa", 
        "id": "sg:person.0723520054.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723520054.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Catania", 
          "id": "https://www.grid.ac/institutes/grid.8158.4", 
          "name": [
            "Oasi Research Institute\u2013IRCCS, Troina, Italy", 
            "Medical Genetics, University of Catania School of Medicine, Catania, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fichera", 
        "givenName": "Marco", 
        "id": "sg:person.0575513774.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medical Genetics, ASP Ragusa, Ragusa, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mandar\u00e0", 
        "givenName": "Luana", 
        "id": "sg:person.0754546663.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754546663.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vincent", 
        "givenName": "Marie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nizon", 
        "givenName": "Mathilde", 
        "id": "sg:person.01164550645.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164550645.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mercier", 
        "givenName": "Sandra", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "B\u00e9n\u00e9teau", 
        "givenName": "Claire", 
        "id": "sg:person.0634531425.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634531425.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bretonneau Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411777.3", 
          "name": [
            "Department of genetics, Bretonneau university hospital, Tours, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blesson", 
        "givenName": "Sophie", 
        "id": "sg:person.0726521467.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726521467.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de Cytogenetique, CHU de Le Mans, Le Mans, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martin-Coignard", 
        "givenName": "Dominique", 
        "id": "sg:person.01316165665.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316165665.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mosca-Boidron", 
        "givenName": "Anne-Laure", 
        "id": "sg:person.01154371271.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154371271.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Li\u00e8ge", 
          "id": "https://www.grid.ac/institutes/grid.411374.4", 
          "name": [
            "Centre Hospitalier Universitaire de Li\u00e8ge. Domaine Universitaire du Sart Tilman, Li\u00e8ge, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Caberg", 
        "givenName": "Jean-Hubert", 
        "id": "sg:person.01105471077.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01105471077.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Pennsylvania", 
          "id": "https://www.grid.ac/institutes/grid.25879.31", 
          "name": [
            "Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bucan", 
        "givenName": "Maja", 
        "id": "sg:person.01365302562.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365302562.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McMaster University", 
          "id": "https://www.grid.ac/institutes/grid.25073.33", 
          "name": [
            "McMaster University, Hamilton, Ontario, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zeesman", 
        "givenName": "Susan", 
        "id": "sg:person.0740772121.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740772121.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McMaster University", 
          "id": "https://www.grid.ac/institutes/grid.25073.33", 
          "name": [
            "McMaster University, Hamilton, Ontario, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nowaczyk", 
        "givenName": "Ma\u0142gorzata J. M.", 
        "id": "sg:person.01160613614.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160613614.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Centre de Genetique. Hopital d\u2019Enfants Dijon, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lefebvre", 
        "givenName": "Mathilde", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Faivre", 
        "givenName": "Laurence", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Callier", 
        "givenName": "Patrick", 
        "id": "sg:person.0724735750.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724735750.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Skinner", 
        "givenName": "Cindy", 
        "id": "sg:person.0614102667.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614102667.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Hopital La Pitie Salpetriere, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Keren", 
        "givenName": "Boris", 
        "id": "sg:person.0637373204.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637373204.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Hopital La Pitie Salpetriere, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Perrine", 
        "givenName": "Charles", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Medical Genetics Unit, Hospital \u201cSanta Maria della Misericordia\u201d, Perugia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Prontera", 
        "givenName": "Paolo", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marle", 
        "givenName": "Nathalie", 
        "id": "sg:person.01124032252.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124032252.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Azienda Ospedaliera Universitaria Senese", 
          "id": "https://www.grid.ac/institutes/grid.411477.0", 
          "name": [
            "Medical Genetics, University of Siena, Siena, Italy", 
            "Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Renieri", 
        "givenName": "Alessandra", 
        "id": "sg:person.0760221776.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760221776.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Lausanne", 
          "id": "https://www.grid.ac/institutes/grid.9851.5", 
          "name": [
            "Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reymond", 
        "givenName": "Alexandre", 
        "id": "sg:person.01251740635.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251740635.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Antwerp University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411414.5", 
          "name": [
            "Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kooy", 
        "givenName": "R. Frank", 
        "id": "sg:person.01157237445.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157237445.79"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "CHU Nantes, Medical genetics department, Nantes, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Isidor", 
        "givenName": "Bertrand", 
        "id": "sg:person.0727401070.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727401070.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schwartz", 
        "givenName": "Charles", 
        "id": "sg:person.01363263366.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363263366.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Oasi Research Institute\u2013IRCCS, Troina, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Romano", 
        "givenName": "Corrado", 
        "id": "sg:person.014011776500.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sistermans", 
        "givenName": "Erik", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416107.5", 
          "name": [
            "Department of Paediatrics, Royal Children\u2019s Hospital, Murdoch Children\u2019s Research Institute and University of Melbourne, Melbourne, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Amor", 
        "givenName": "David J.", 
        "id": "sg:person.011062752524.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011062752524.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Jeanne de Flandre", 
          "id": "https://www.grid.ac/institutes/grid.414184.c", 
          "name": [
            "Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andrieux", 
        "givenName": "Joris", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pennsylvania State University", 
          "id": "https://www.grid.ac/institutes/grid.29857.31", 
          "name": [
            "Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Girirajan", 
        "givenName": "Santhosh", 
        "id": "sg:person.0650527525.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650527525.97"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ajmg.b.32441", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001650601"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.10.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008579771"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.10.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008579771"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jamapsychiatry.2015.2692", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012126776"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jamapsychiatry.2015.2123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012845757"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.38.3.145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013110718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pgen.1003709", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013368129"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1516767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017038770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neuron.2015.09.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017638361"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neuron.2015.09.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017638361"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature10406", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017638562", 
          "https://doi.org/10.1038/nature10406"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1528-1167.2010.02790.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018210867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1528-1167.2010.02790.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018210867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature19057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022281897", 
          "https://doi.org/10.1038/nature19057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.10.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023467213"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddt540", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027236995"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3303", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029270993", 
          "https://doi.org/10.1038/ng.3303"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2653", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032444369", 
          "https://doi.org/10.1038/ng.2653"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2009.03.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032488403"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(13)70011-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032849003"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2013.092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033211555", 
          "https://doi.org/10.1038/nprot.2013.092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2013.092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033211555", 
          "https://doi.org/10.1038/nprot.2013.092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2014.02.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034509405"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jamapsychiatry.2014.2147", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034630721"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddr243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034823770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.schres.2014.02.023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037577212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1200395", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039475746"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jama.2015.4845", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040382750"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.534", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041425348", 
          "https://doi.org/10.1038/ng.534"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.534", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041425348", 
          "https://doi.org/10.1038/ng.534"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-015-0216-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041612219", 
          "https://doi.org/10.1186/s13073-015-0216-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12818", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043154470", 
          "https://doi.org/10.1038/nature12818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neuron.2012.02.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045023898"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1516376112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045344717"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature13908", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046951438", 
          "https://doi.org/10.1038/nature13908"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0056599", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046962495"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2892", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050728268", 
          "https://doi.org/10.1038/ng.2892"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0140-6736(90)91520-k", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052585661"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0140-6736(90)91520-k", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052585661"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0701361104", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053516074"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg.2017.4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084129687", 
          "https://doi.org/10.1038/nrg.2017.4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3903", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1086219112", 
          "https://doi.org/10.1038/ng.3903"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3903", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1086219112", 
          "https://doi.org/10.1038/ng.3903"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0180485", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090376025"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2017.08.047", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091972052"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2017.08.047", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091972052"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.aan2261", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103524177"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.aan2261", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103524177"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2018.33", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103655229", 
          "https://doi.org/10.1038/gim.2018.33"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-04", 
    "datePublishedReg": "2019-04-01", 
    "description": "PURPOSE: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants.\nMETHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants.\nRESULTS: The number of rare likely deleterious variants in functionally intolerant genes (\"other hits\") correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with their carrier family members. Probands with 16p12.1 deletion and a strong family history presented more severe clinical features (p=0.04) and higher burden of other hits compared with those with mild/no family history (p=0.001). The number of other hits also correlated with severity of cognitive impairment in probands carrying pathogenic CNVs (n=53) or de novo pathogenic variants in disease genes (n=290), and negatively correlated with head size among 80 probands with 16p11.2 deletion. These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes.\nCONCLUSION: Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41436-018-0266-3", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2684183", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6617290", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "name": "Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants", 
    "pagination": "816-825", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41436-018-0266-3"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ffadffd24a408614c269eac4b931e141b509b59bcadd9b24753e0456bc66b49a"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1106707804"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30190612"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41436-018-0266-3", 
      "https://app.dimensions.ai/details/publication/pub.1106707804"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T09:01", 
    "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/v90/0000000375_0000000375/records_91444_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41436-018-0266-3"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0266-3'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0266-3'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0266-3'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0266-3'


 

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

661 TRIPLES      21 PREDICATES      69 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41436-018-0266-3 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N5701f8e5690a4d9088592a4d23dff9c5
4 schema:citation sg:pub.10.1038/gim.2018.33
5 sg:pub.10.1038/nature10406
6 sg:pub.10.1038/nature12818
7 sg:pub.10.1038/nature13908
8 sg:pub.10.1038/nature19057
9 sg:pub.10.1038/ng.2653
10 sg:pub.10.1038/ng.2892
11 sg:pub.10.1038/ng.3303
12 sg:pub.10.1038/ng.3903
13 sg:pub.10.1038/ng.534
14 sg:pub.10.1038/nprot.2013.092
15 sg:pub.10.1038/nrg.2017.4
16 sg:pub.10.1186/s13073-015-0216-5
17 https://doi.org/10.1001/jama.2015.4845
18 https://doi.org/10.1001/jamapsychiatry.2014.2147
19 https://doi.org/10.1001/jamapsychiatry.2015.2123
20 https://doi.org/10.1001/jamapsychiatry.2015.2692
21 https://doi.org/10.1002/ajmg.b.32441
22 https://doi.org/10.1016/0140-6736(90)91520-k
23 https://doi.org/10.1016/j.ajhg.2012.10.013
24 https://doi.org/10.1016/j.ajhg.2014.02.001
25 https://doi.org/10.1016/j.ajhg.2015.10.013
26 https://doi.org/10.1016/j.cell.2017.08.047
27 https://doi.org/10.1016/j.ejmg.2009.03.006
28 https://doi.org/10.1016/j.neuron.2012.02.014
29 https://doi.org/10.1016/j.neuron.2015.09.016
30 https://doi.org/10.1016/j.schres.2014.02.023
31 https://doi.org/10.1016/s1474-4422(13)70011-5
32 https://doi.org/10.1056/nejmoa1200395
33 https://doi.org/10.1056/nejmoa1516767
34 https://doi.org/10.1073/pnas.0701361104
35 https://doi.org/10.1073/pnas.1516376112
36 https://doi.org/10.1093/hmg/ddr243
37 https://doi.org/10.1093/hmg/ddt540
38 https://doi.org/10.1111/j.1528-1167.2010.02790.x
39 https://doi.org/10.1126/science.aan2261
40 https://doi.org/10.1136/jmg.38.3.145
41 https://doi.org/10.1371/journal.pgen.1003709
42 https://doi.org/10.1371/journal.pone.0056599
43 https://doi.org/10.1371/journal.pone.0180485
44 schema:datePublished 2019-04
45 schema:datePublishedReg 2019-04-01
46 schema:description PURPOSE: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. METHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. RESULTS: The number of rare likely deleterious variants in functionally intolerant genes ("other hits") correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with their carrier family members. Probands with 16p12.1 deletion and a strong family history presented more severe clinical features (p=0.04) and higher burden of other hits compared with those with mild/no family history (p=0.001). The number of other hits also correlated with severity of cognitive impairment in probands carrying pathogenic CNVs (n=53) or de novo pathogenic variants in disease genes (n=290), and negatively correlated with head size among 80 probands with 16p11.2 deletion. These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes. CONCLUSION: Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified.
47 schema:genre research_article
48 schema:inLanguage en
49 schema:isAccessibleForFree false
50 schema:isPartOf Na8650f9b7b36486bbf58b70b0660f62e
51 Nba2fe2bf440d42caa168df0cb8d794f8
52 sg:journal.1119411
53 schema:name Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
54 schema:pagination 816-825
55 schema:productId N387989050f3844b2be28f7449ebb5524
56 N4481cc91af5d4e0e819c3c26ebae5098
57 N7365a03ad9d0465e9455e2dfb5c50aeb
58 Na24096396b234148ba556a8fc94fba5b
59 Nfbab5f02018d4045bad31bf0872bd995
60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1106707804
61 https://doi.org/10.1038/s41436-018-0266-3
62 schema:sdDatePublished 2019-04-15T09:01
63 schema:sdLicense https://scigraph.springernature.com/explorer/license/
64 schema:sdPublisher Ne21047068cc94f3a9ea770fea3368bc6
65 schema:url https://www.nature.com/articles/s41436-018-0266-3
66 sgo:license sg:explorer/license/
67 sgo:sdDataset articles
68 rdf:type schema:ScholarlyArticle
69 N00492122df1d46f9b6ab75d20b489be7 rdf:first sg:person.011272313764.37
70 rdf:rest Nc200d88674494cd5b1dfd841004fc9f9
71 N09103bf03ae046d5bbcffce9935e042a rdf:first sg:person.015462574027.49
72 rdf:rest N5f86e300c2d04dac82c625c47fbb530e
73 N0933679c3e1a4c958f6e01f0ae8d4a3f rdf:first sg:person.0727401070.60
74 rdf:rest N15aed701edb8468787ad65480253ef65
75 N0ec63b2d555a44039d0cce70f0e8b0d3 schema:affiliation Nab14217bd8854492ac5c0e6ec527da8b
76 schema:familyName Sistermans
77 schema:givenName Erik
78 rdf:type schema:Person
79 N15aed701edb8468787ad65480253ef65 rdf:first sg:person.01363263366.49
80 rdf:rest N62600650a11c42a1ac3e4dbff65b5216
81 N1786aafb2fe34eb88e2e3470e2c8443b rdf:first N686c1aebd7194fd38ddf6c29bbe6a951
82 rdf:rest Nd312fdd26e2a46399f2488117c26a506
83 N17eb6de383a1413592770cdfba715664 rdf:first sg:person.0634531425.78
84 rdf:rest N51afb2915caf4f209a6a9064243ec20c
85 N1ddd4d351f594a8fb46a646c87effd97 rdf:first sg:person.0650527525.97
86 rdf:rest rdf:nil
87 N1ee2506e2d9d49f2944a500dd553bf5c rdf:first sg:person.0724735750.84
88 rdf:rest Nef1164eddcb84d00a35c8ee9bf3b2585
89 N1fcb6153d1324fe886c7fee89b30a45b schema:affiliation https://www.grid.ac/institutes/grid.411439.a
90 schema:familyName Perrine
91 schema:givenName Charles
92 rdf:type schema:Person
93 N229280faad654797912b5319a3b111e6 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
94 schema:familyName Yoon
95 schema:givenName Jieun
96 rdf:type schema:Person
97 N27256ca026ed4d068e01a49f2efb57fc rdf:first sg:person.011062752524.91
98 rdf:rest N6ce7ed6b7ec24048a2ca2eb7a0b71a21
99 N27ebc968f49c4a90a7d88f67b7e5214c rdf:first sg:person.01251740635.19
100 rdf:rest N55a8c968d1b34031afdc4c125ad8c82d
101 N2e4bd2d0a11d48f0a383e89f028262de rdf:first N0ec63b2d555a44039d0cce70f0e8b0d3
102 rdf:rest N27256ca026ed4d068e01a49f2efb57fc
103 N387989050f3844b2be28f7449ebb5524 schema:name dimensions_id
104 schema:value pub.1106707804
105 rdf:type schema:PropertyValue
106 N3aeff1a8600d4c6eb67b0630a027c17f rdf:first sg:person.01267333714.32
107 rdf:rest N4fa01abd5d2342b98a1fe5e550e95df1
108 N3c3a6fc2c1074358971ba38d064b8f22 rdf:first sg:person.0723520054.39
109 rdf:rest Nced62c929112457b840b7d13680f39ac
110 N3db7dadbe610473092ac7e9a7732e423 rdf:first N99117cd37e1743f0a989d95ea1b6cfcb
111 rdf:rest N955e659eb3784de593f128e0188572f1
112 N3f4debbacfcf46b49ae468d6ea4a2b5e rdf:first sg:person.0754546663.18
113 rdf:rest N5068fa205f1042c2879d8dcb4a4b1a05
114 N40a33bf7c71648fc9cfc1d87f4a0e70f rdf:first Ne94940aacc24480292d9ad4174482021
115 rdf:rest N3db7dadbe610473092ac7e9a7732e423
116 N40a6fcbee6b945fa83ee00a5739b49b6 rdf:first Nd6e390d7f120448f8f09b5b392deac08
117 rdf:rest N1ee2506e2d9d49f2944a500dd553bf5c
118 N43187ff0542f487ca73189214a37295c rdf:first sg:person.015007463164.11
119 rdf:rest N40a33bf7c71648fc9cfc1d87f4a0e70f
120 N44407743d736493093dead447a9ae08c rdf:first sg:person.01203124155.85
121 rdf:rest Na0629eecd1534a7c858719f78748e3a4
122 N4481cc91af5d4e0e819c3c26ebae5098 schema:name pubmed_id
123 schema:value 30190612
124 rdf:type schema:PropertyValue
125 N48751c87e1bb4daca0f8380c60d5da86 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
126 schema:familyName Vincent
127 schema:givenName Marie
128 rdf:type schema:Person
129 N4875273aa3d048a196aa8a48e1bd8782 schema:name Oasi Research Institute–IRCCS, Troina, Italy
130 rdf:type schema:Organization
131 N492a8e955ff54ad4af354915c64cd576 rdf:first sg:person.01365302562.08
132 rdf:rest N7b504c4c37594a4c908da98a0808dcbc
133 N4bf3c9324ba644e5b01892bb9aec889e rdf:first sg:person.0637373204.82
134 rdf:rest N729151bae8084190a52fadacf52e9a38
135 N4fa01abd5d2342b98a1fe5e550e95df1 rdf:first N904d86ddaed54a948219ef4f7b9f1506
136 rdf:rest N44407743d736493093dead447a9ae08c
137 N5068fa205f1042c2879d8dcb4a4b1a05 rdf:first N48751c87e1bb4daca0f8380c60d5da86
138 rdf:rest N79cf77c915774ec3b05d3018eeddaf2d
139 N51afb2915caf4f209a6a9064243ec20c rdf:first sg:person.0726521467.45
140 rdf:rest Nefe7edb5dc114cfeb6a203561643b913
141 N54b56b0b69744dd290a8162ee87b102e schema:affiliation Nebd5d6164bef4b43afe6ca0a39528b55
142 schema:familyName Lefebvre
143 schema:givenName Mathilde
144 rdf:type schema:Person
145 N55a8c968d1b34031afdc4c125ad8c82d rdf:first sg:person.01157237445.79
146 rdf:rest N0933679c3e1a4c958f6e01f0ae8d4a3f
147 N5701f8e5690a4d9088592a4d23dff9c5 rdf:first sg:person.01161776022.22
148 rdf:rest Naecc35d5e6de410baad4dd1cc098fa01
149 N5d360c7763404c51bf2f0df8e4882836 rdf:first Na0eacbc512e2495c869b35bf83401720
150 rdf:rest N8cf6b15aa848427bbfc2f1a73c972fe0
151 N5f86e300c2d04dac82c625c47fbb530e rdf:first sg:person.01300753613.22
152 rdf:rest N6bf834cedf354f75acccccd3ff688fda
153 N621d76cb33064ff2880b5a33d35e7db0 rdf:first sg:person.01160613614.43
154 rdf:rest Naa90c9403c8741f79f02fbf1a6d50a2d
155 N62600650a11c42a1ac3e4dbff65b5216 rdf:first sg:person.014011776500.13
156 rdf:rest N2e4bd2d0a11d48f0a383e89f028262de
157 N678b8f4c3d754716a887615ffc9b5ff0 schema:name Oasi Research Institute–IRCCS, Troina, Italy
158 rdf:type schema:Organization
159 N6850707c671e40329939c03bcac57e90 schema:name Medical Genetics Unit, Hospital “Santa Maria della Misericordia”, Perugia, Italy
160 rdf:type schema:Organization
161 N686c1aebd7194fd38ddf6c29bbe6a951 schema:affiliation N6850707c671e40329939c03bcac57e90
162 schema:familyName Prontera
163 schema:givenName Paolo
164 rdf:type schema:Person
165 N698db7a39764433495f1f9288db5f8f3 rdf:first sg:person.01105471077.68
166 rdf:rest N492a8e955ff54ad4af354915c64cd576
167 N6bf834cedf354f75acccccd3ff688fda rdf:first sg:person.01072007737.03
168 rdf:rest N3aeff1a8600d4c6eb67b0630a027c17f
169 N6ce7ed6b7ec24048a2ca2eb7a0b71a21 rdf:first N6e917fc65a3d492daa2f2c1f14519cd4
170 rdf:rest N1ddd4d351f594a8fb46a646c87effd97
171 N6e917fc65a3d492daa2f2c1f14519cd4 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
172 schema:familyName Andrieux
173 schema:givenName Joris
174 rdf:type schema:Person
175 N729151bae8084190a52fadacf52e9a38 rdf:first N1fcb6153d1324fe886c7fee89b30a45b
176 rdf:rest N1786aafb2fe34eb88e2e3470e2c8443b
177 N7365a03ad9d0465e9455e2dfb5c50aeb schema:name doi
178 schema:value 10.1038/s41436-018-0266-3
179 rdf:type schema:PropertyValue
180 N742110b41a2e448aa85c26785bb0287a schema:name Oasi Research Institute–IRCCS, Troina, Italy
181 rdf:type schema:Organization
182 N79cf77c915774ec3b05d3018eeddaf2d rdf:first sg:person.01164550645.79
183 rdf:rest N923826b83268478d9f75900dccf3dd5e
184 N7b504c4c37594a4c908da98a0808dcbc rdf:first sg:person.0740772121.75
185 rdf:rest N621d76cb33064ff2880b5a33d35e7db0
186 N801b9f228487487dab2e2230468981f7 schema:name Oasi Research Institute–IRCCS, Troina, Italy
187 rdf:type schema:Organization
188 N8cf6b15aa848427bbfc2f1a73c972fe0 rdf:first Nd50b474f26a44591b8b11bbc6a013d1e
189 rdf:rest Nbf8e2e5e677744f08f4bdbd51d83e99f
190 N8d2990fc4490451d9955d9e438f280e1 rdf:first sg:person.01154371271.66
191 rdf:rest N698db7a39764433495f1f9288db5f8f3
192 N904d86ddaed54a948219ef4f7b9f1506 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
193 schema:familyName Pope
194 schema:givenName Kate
195 rdf:type schema:Person
196 N914846c1b71d461f88f0cf0ca52ee297 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
197 schema:familyName Mercier
198 schema:givenName Sandra
199 rdf:type schema:Person
200 N923826b83268478d9f75900dccf3dd5e rdf:first N914846c1b71d461f88f0cf0ca52ee297
201 rdf:rest N17eb6de383a1413592770cdfba715664
202 N934f516b82d444e0a22665169419eed0 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
203 schema:familyName Jensen
204 schema:givenName Matthew
205 rdf:type schema:Person
206 N955e659eb3784de593f128e0188572f1 rdf:first sg:person.01162120442.52
207 rdf:rest Nb9b392bad7954f08bf85124b651891f9
208 N99117cd37e1743f0a989d95ea1b6cfcb schema:affiliation https://www.grid.ac/institutes/grid.29857.31
209 schema:familyName Kumar
210 schema:givenName Vijay
211 rdf:type schema:Person
212 Na0629eecd1534a7c858719f78748e3a4 rdf:first N229280faad654797912b5319a3b111e6
213 rdf:rest Ndcad5c7db2ad41198a87785745c1ed5a
214 Na0eacbc512e2495c869b35bf83401720 schema:affiliation https://www.grid.ac/institutes/grid.412748.c
215 schema:familyName Polyak
216 schema:givenName Andrew
217 rdf:type schema:Person
218 Na24096396b234148ba556a8fc94fba5b schema:name nlm_unique_id
219 schema:value 9815831
220 rdf:type schema:PropertyValue
221 Na57dd1661943448b80b7e79c1406c582 rdf:first sg:person.01354710230.23
222 rdf:rest Ncac311a7c60a498290332877f7f8c802
223 Na8650f9b7b36486bbf58b70b0660f62e schema:volumeNumber 21
224 rdf:type schema:PublicationVolume
225 Naa90c9403c8741f79f02fbf1a6d50a2d rdf:first N54b56b0b69744dd290a8162ee87b102e
226 rdf:rest N40a6fcbee6b945fa83ee00a5739b49b6
227 Nab14217bd8854492ac5c0e6ec527da8b schema:name Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands
228 rdf:type schema:Organization
229 Naecc35d5e6de410baad4dd1cc098fa01 rdf:first N934f516b82d444e0a22665169419eed0
230 rdf:rest N5d360c7763404c51bf2f0df8e4882836
231 Naf8bb06389ab4980bd67811a9e61650f rdf:first sg:person.01350742712.44
232 rdf:rest N09103bf03ae046d5bbcffce9935e042a
233 Nb78b1823df6d46ad92a4e4851322568d schema:name Medical Genetics, ASP Ragusa, Ragusa, Italy
234 rdf:type schema:Organization
235 Nb9b392bad7954f08bf85124b651891f9 rdf:first sg:person.01055270604.12
236 rdf:rest N00492122df1d46f9b6ab75d20b489be7
237 Nba2fe2bf440d42caa168df0cb8d794f8 schema:issueNumber 4
238 rdf:type schema:PublicationIssue
239 Nbf8e2e5e677744f08f4bdbd51d83e99f rdf:first sg:person.0677425160.03
240 rdf:rest Naf8bb06389ab4980bd67811a9e61650f
241 Nc200d88674494cd5b1dfd841004fc9f9 rdf:first sg:person.01101124603.35
242 rdf:rest Na57dd1661943448b80b7e79c1406c582
243 Nc4ec94ce034a4410b8bc2b95f8c9d340 schema:name Service de Cytogenetique, CHU de Le Mans, Le Mans, France
244 rdf:type schema:Organization
245 Ncac311a7c60a498290332877f7f8c802 rdf:first sg:person.0613617450.34
246 rdf:rest N3c3a6fc2c1074358971ba38d064b8f22
247 Nced62c929112457b840b7d13680f39ac rdf:first sg:person.0575513774.52
248 rdf:rest N3f4debbacfcf46b49ae468d6ea4a2b5e
249 Nd312fdd26e2a46399f2488117c26a506 rdf:first sg:person.01124032252.63
250 rdf:rest Nfdfe201d8fb944a7b212215ab4617954
251 Nd50b474f26a44591b8b11bbc6a013d1e schema:affiliation https://www.grid.ac/institutes/grid.39382.33
252 schema:familyName Rosenfeld
253 schema:givenName Jill A.
254 rdf:type schema:Person
255 Nd6e390d7f120448f8f09b5b392deac08 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
256 schema:familyName Faivre
257 schema:givenName Laurence
258 rdf:type schema:Person
259 Ndcad5c7db2ad41198a87785745c1ed5a rdf:first sg:person.014235161777.09
260 rdf:rest Ne4a7914e2540451ab899a277d380938d
261 Ne21047068cc94f3a9ea770fea3368bc6 schema:name Springer Nature - SN SciGraph project
262 rdf:type schema:Organization
263 Ne46e2ba77316477fa6271a70e33e67d2 schema:name Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands
264 rdf:type schema:Organization
265 Ne4a7914e2540451ab899a277d380938d rdf:first sg:person.01051432631.92
266 rdf:rest N43187ff0542f487ca73189214a37295c
267 Ne94940aacc24480292d9ad4174482021 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
268 schema:familyName Huber
269 schema:givenName Emily
270 rdf:type schema:Person
271 Nebd5d6164bef4b43afe6ca0a39528b55 schema:name Centre de Genetique. Hopital d’Enfants Dijon, Dijon, France
272 rdf:type schema:Organization
273 Nef1164eddcb84d00a35c8ee9bf3b2585 rdf:first sg:person.0614102667.15
274 rdf:rest N4bf3c9324ba644e5b01892bb9aec889e
275 Nefe7edb5dc114cfeb6a203561643b913 rdf:first sg:person.01316165665.96
276 rdf:rest N8d2990fc4490451d9955d9e438f280e1
277 Nfbab5f02018d4045bad31bf0872bd995 schema:name readcube_id
278 schema:value ffadffd24a408614c269eac4b931e141b509b59bcadd9b24753e0456bc66b49a
279 rdf:type schema:PropertyValue
280 Nfdfe201d8fb944a7b212215ab4617954 rdf:first sg:person.0760221776.20
281 rdf:rest N27ebc968f49c4a90a7d88f67b7e5214c
282 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
283 schema:name Biological Sciences
284 rdf:type schema:DefinedTerm
285 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
286 schema:name Genetics
287 rdf:type schema:DefinedTerm
288 sg:grant.2684183 http://pending.schema.org/fundedItem sg:pub.10.1038/s41436-018-0266-3
289 rdf:type schema:MonetaryGrant
290 sg:grant.6617290 http://pending.schema.org/fundedItem sg:pub.10.1038/s41436-018-0266-3
291 rdf:type schema:MonetaryGrant
292 sg:journal.1119411 schema:issn 1098-3600
293 1530-0366
294 schema:name Genetics in Medicine
295 rdf:type schema:Periodical
296 sg:person.01051432631.92 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
297 schema:familyName Cheung
298 schema:givenName Sau Wai
299 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051432631.92
300 rdf:type schema:Person
301 sg:person.01055270604.12 schema:affiliation https://www.grid.ac/institutes/grid.411477.0
302 schema:familyName Mari
303 schema:givenName Francesca
304 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055270604.12
305 rdf:type schema:Person
306 sg:person.01072007737.03 schema:affiliation https://www.grid.ac/institutes/grid.457374.6
307 schema:familyName Le Caignec
308 schema:givenName Cedric
309 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072007737.03
310 rdf:type schema:Person
311 sg:person.01101124603.35 schema:affiliation N801b9f228487487dab2e2230468981f7
312 schema:familyName Castiglia
313 schema:givenName Lucia
314 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101124603.35
315 rdf:type schema:Person
316 sg:person.01105471077.68 schema:affiliation https://www.grid.ac/institutes/grid.411374.4
317 schema:familyName Caberg
318 schema:givenName Jean-Hubert
319 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01105471077.68
320 rdf:type schema:Person
321 sg:person.011062752524.91 schema:affiliation https://www.grid.ac/institutes/grid.416107.5
322 schema:familyName Amor
323 schema:givenName David J.
324 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011062752524.91
325 rdf:type schema:Person
326 sg:person.01124032252.63 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
327 schema:familyName Marle
328 schema:givenName Nathalie
329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124032252.63
330 rdf:type schema:Person
331 sg:person.011272313764.37 schema:affiliation https://www.grid.ac/institutes/grid.411477.0
332 schema:familyName Curró
333 schema:givenName Aurora
334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011272313764.37
335 rdf:type schema:Person
336 sg:person.01154371271.66 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
337 schema:familyName Mosca-Boidron
338 schema:givenName Anne-Laure
339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154371271.66
340 rdf:type schema:Person
341 sg:person.01157237445.79 schema:affiliation https://www.grid.ac/institutes/grid.411414.5
342 schema:familyName Kooy
343 schema:givenName R. Frank
344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157237445.79
345 rdf:type schema:Person
346 sg:person.01160613614.43 schema:affiliation https://www.grid.ac/institutes/grid.25073.33
347 schema:familyName Nowaczyk
348 schema:givenName Małgorzata J. M.
349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160613614.43
350 rdf:type schema:Person
351 sg:person.01161776022.22 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
352 schema:familyName Pizzo
353 schema:givenName Lucilla
354 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161776022.22
355 rdf:type schema:Person
356 sg:person.01162120442.52 schema:affiliation https://www.grid.ac/institutes/grid.25879.31
357 schema:familyName Kember
358 schema:givenName Rachel L.
359 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162120442.52
360 rdf:type schema:Person
361 sg:person.01164550645.79 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
362 schema:familyName Nizon
363 schema:givenName Mathilde
364 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164550645.79
365 rdf:type schema:Person
366 sg:person.01203124155.85 schema:affiliation Ne46e2ba77316477fa6271a70e33e67d2
367 schema:familyName Voorhoeve
368 schema:givenName Els
369 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203124155.85
370 rdf:type schema:Person
371 sg:person.01251740635.19 schema:affiliation https://www.grid.ac/institutes/grid.9851.5
372 schema:familyName Reymond
373 schema:givenName Alexandre
374 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251740635.19
375 rdf:type schema:Person
376 sg:person.01267333714.32 schema:affiliation https://www.grid.ac/institutes/grid.411414.5
377 schema:familyName Van Dijck
378 schema:givenName Anke
379 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267333714.32
380 rdf:type schema:Person
381 sg:person.01300753613.22 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
382 schema:familyName Pichon
383 schema:givenName Olivier
384 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300753613.22
385 rdf:type schema:Person
386 sg:person.01316165665.96 schema:affiliation Nc4ec94ce034a4410b8bc2b95f8c9d340
387 schema:familyName Martin-Coignard
388 schema:givenName Dominique
389 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316165665.96
390 rdf:type schema:Person
391 sg:person.01350742712.44 schema:affiliation https://www.grid.ac/institutes/grid.17088.36
392 schema:familyName Krishnan
393 schema:givenName Arjun
394 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350742712.44
395 rdf:type schema:Person
396 sg:person.01354710230.23 schema:affiliation N742110b41a2e448aa85c26785bb0287a
397 schema:familyName Galesi
398 schema:givenName Ornella
399 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354710230.23
400 rdf:type schema:Person
401 sg:person.01363263366.49 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
402 schema:familyName Schwartz
403 schema:givenName Charles
404 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363263366.49
405 rdf:type schema:Person
406 sg:person.01365302562.08 schema:affiliation https://www.grid.ac/institutes/grid.25879.31
407 schema:familyName Bucan
408 schema:givenName Maja
409 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365302562.08
410 rdf:type schema:Person
411 sg:person.014011776500.13 schema:affiliation N678b8f4c3d754716a887615ffc9b5ff0
412 schema:familyName Romano
413 schema:givenName Corrado
414 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13
415 rdf:type schema:Person
416 sg:person.014235161777.09 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
417 schema:familyName Stankiewicz
418 schema:givenName Paweł
419 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014235161777.09
420 rdf:type schema:Person
421 sg:person.015007463164.11 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
422 schema:familyName Pazuchanics
423 schema:givenName Damian
424 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015007463164.11
425 rdf:type schema:Person
426 sg:person.015462574027.49 schema:affiliation https://www.grid.ac/institutes/grid.25073.33
427 schema:familyName McCready
428 schema:givenName Elizabeth
429 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015462574027.49
430 rdf:type schema:Person
431 sg:person.0575513774.52 schema:affiliation https://www.grid.ac/institutes/grid.8158.4
432 schema:familyName Fichera
433 schema:givenName Marco
434 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575513774.52
435 rdf:type schema:Person
436 sg:person.0613617450.34 schema:affiliation N4875273aa3d048a196aa8a48e1bd8782
437 schema:familyName Avola
438 schema:givenName Emanuela
439 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0613617450.34
440 rdf:type schema:Person
441 sg:person.0614102667.15 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
442 schema:familyName Skinner
443 schema:givenName Cindy
444 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614102667.15
445 rdf:type schema:Person
446 sg:person.0634531425.78 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
447 schema:familyName Bénéteau
448 schema:givenName Claire
449 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634531425.78
450 rdf:type schema:Person
451 sg:person.0637373204.82 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
452 schema:familyName Keren
453 schema:givenName Boris
454 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637373204.82
455 rdf:type schema:Person
456 sg:person.0650527525.97 schema:affiliation https://www.grid.ac/institutes/grid.29857.31
457 schema:familyName Girirajan
458 schema:givenName Santhosh
459 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650527525.97
460 rdf:type schema:Person
461 sg:person.0677425160.03 schema:affiliation https://www.grid.ac/institutes/grid.10939.32
462 schema:familyName Mannik
463 schema:givenName Katrin
464 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0677425160.03
465 rdf:type schema:Person
466 sg:person.0723520054.39 schema:affiliation https://www.grid.ac/institutes/grid.8158.4
467 schema:familyName Mattina
468 schema:givenName Teresa
469 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723520054.39
470 rdf:type schema:Person
471 sg:person.0724735750.84 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
472 schema:familyName Callier
473 schema:givenName Patrick
474 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724735750.84
475 rdf:type schema:Person
476 sg:person.0726521467.45 schema:affiliation https://www.grid.ac/institutes/grid.411777.3
477 schema:familyName Blesson
478 schema:givenName Sophie
479 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726521467.45
480 rdf:type schema:Person
481 sg:person.0727401070.60 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
482 schema:familyName Isidor
483 schema:givenName Bertrand
484 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727401070.60
485 rdf:type schema:Person
486 sg:person.0740772121.75 schema:affiliation https://www.grid.ac/institutes/grid.25073.33
487 schema:familyName Zeesman
488 schema:givenName Susan
489 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0740772121.75
490 rdf:type schema:Person
491 sg:person.0754546663.18 schema:affiliation Nb78b1823df6d46ad92a4e4851322568d
492 schema:familyName Mandarà
493 schema:givenName Luana
494 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754546663.18
495 rdf:type schema:Person
496 sg:person.0760221776.20 schema:affiliation https://www.grid.ac/institutes/grid.411477.0
497 schema:familyName Renieri
498 schema:givenName Alessandra
499 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0760221776.20
500 rdf:type schema:Person
501 sg:pub.10.1038/gim.2018.33 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103655229
502 https://doi.org/10.1038/gim.2018.33
503 rdf:type schema:CreativeWork
504 sg:pub.10.1038/nature10406 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017638562
505 https://doi.org/10.1038/nature10406
506 rdf:type schema:CreativeWork
507 sg:pub.10.1038/nature12818 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043154470
508 https://doi.org/10.1038/nature12818
509 rdf:type schema:CreativeWork
510 sg:pub.10.1038/nature13908 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046951438
511 https://doi.org/10.1038/nature13908
512 rdf:type schema:CreativeWork
513 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
514 https://doi.org/10.1038/nature19057
515 rdf:type schema:CreativeWork
516 sg:pub.10.1038/ng.2653 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032444369
517 https://doi.org/10.1038/ng.2653
518 rdf:type schema:CreativeWork
519 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
520 https://doi.org/10.1038/ng.2892
521 rdf:type schema:CreativeWork
522 sg:pub.10.1038/ng.3303 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029270993
523 https://doi.org/10.1038/ng.3303
524 rdf:type schema:CreativeWork
525 sg:pub.10.1038/ng.3903 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086219112
526 https://doi.org/10.1038/ng.3903
527 rdf:type schema:CreativeWork
528 sg:pub.10.1038/ng.534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041425348
529 https://doi.org/10.1038/ng.534
530 rdf:type schema:CreativeWork
531 sg:pub.10.1038/nprot.2013.092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033211555
532 https://doi.org/10.1038/nprot.2013.092
533 rdf:type schema:CreativeWork
534 sg:pub.10.1038/nrg.2017.4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084129687
535 https://doi.org/10.1038/nrg.2017.4
536 rdf:type schema:CreativeWork
537 sg:pub.10.1186/s13073-015-0216-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041612219
538 https://doi.org/10.1186/s13073-015-0216-5
539 rdf:type schema:CreativeWork
540 https://doi.org/10.1001/jama.2015.4845 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040382750
541 rdf:type schema:CreativeWork
542 https://doi.org/10.1001/jamapsychiatry.2014.2147 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034630721
543 rdf:type schema:CreativeWork
544 https://doi.org/10.1001/jamapsychiatry.2015.2123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012845757
545 rdf:type schema:CreativeWork
546 https://doi.org/10.1001/jamapsychiatry.2015.2692 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012126776
547 rdf:type schema:CreativeWork
548 https://doi.org/10.1002/ajmg.b.32441 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001650601
549 rdf:type schema:CreativeWork
550 https://doi.org/10.1016/0140-6736(90)91520-k schema:sameAs https://app.dimensions.ai/details/publication/pub.1052585661
551 rdf:type schema:CreativeWork
552 https://doi.org/10.1016/j.ajhg.2012.10.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008579771
553 rdf:type schema:CreativeWork
554 https://doi.org/10.1016/j.ajhg.2014.02.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034509405
555 rdf:type schema:CreativeWork
556 https://doi.org/10.1016/j.ajhg.2015.10.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023467213
557 rdf:type schema:CreativeWork
558 https://doi.org/10.1016/j.cell.2017.08.047 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091972052
559 rdf:type schema:CreativeWork
560 https://doi.org/10.1016/j.ejmg.2009.03.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032488403
561 rdf:type schema:CreativeWork
562 https://doi.org/10.1016/j.neuron.2012.02.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045023898
563 rdf:type schema:CreativeWork
564 https://doi.org/10.1016/j.neuron.2015.09.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017638361
565 rdf:type schema:CreativeWork
566 https://doi.org/10.1016/j.schres.2014.02.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037577212
567 rdf:type schema:CreativeWork
568 https://doi.org/10.1016/s1474-4422(13)70011-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032849003
569 rdf:type schema:CreativeWork
570 https://doi.org/10.1056/nejmoa1200395 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039475746
571 rdf:type schema:CreativeWork
572 https://doi.org/10.1056/nejmoa1516767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017038770
573 rdf:type schema:CreativeWork
574 https://doi.org/10.1073/pnas.0701361104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053516074
575 rdf:type schema:CreativeWork
576 https://doi.org/10.1073/pnas.1516376112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045344717
577 rdf:type schema:CreativeWork
578 https://doi.org/10.1093/hmg/ddr243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034823770
579 rdf:type schema:CreativeWork
580 https://doi.org/10.1093/hmg/ddt540 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027236995
581 rdf:type schema:CreativeWork
582 https://doi.org/10.1111/j.1528-1167.2010.02790.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1018210867
583 rdf:type schema:CreativeWork
584 https://doi.org/10.1126/science.aan2261 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103524177
585 rdf:type schema:CreativeWork
586 https://doi.org/10.1136/jmg.38.3.145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013110718
587 rdf:type schema:CreativeWork
588 https://doi.org/10.1371/journal.pgen.1003709 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013368129
589 rdf:type schema:CreativeWork
590 https://doi.org/10.1371/journal.pone.0056599 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046962495
591 rdf:type schema:CreativeWork
592 https://doi.org/10.1371/journal.pone.0180485 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090376025
593 rdf:type schema:CreativeWork
594 https://www.grid.ac/institutes/grid.10939.32 schema:alternateName University of Tartu
595 schema:name Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
596 Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia
597 rdf:type schema:Organization
598 https://www.grid.ac/institutes/grid.17088.36 schema:alternateName Michigan State University
599 schema:name Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA
600 Department of Computational Mathematics, Science and Engineering, Michigan State University, East Lansing, MI, USA
601 rdf:type schema:Organization
602 https://www.grid.ac/institutes/grid.25073.33 schema:alternateName McMaster University
603 schema:name Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
604 McMaster University, Hamilton, Ontario, Canada
605 rdf:type schema:Organization
606 https://www.grid.ac/institutes/grid.25879.31 schema:alternateName University of Pennsylvania
607 schema:name Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
608 rdf:type schema:Organization
609 https://www.grid.ac/institutes/grid.277151.7 schema:alternateName Centre Hospitalier Universitaire de Nantes
610 schema:name CHU Nantes, Medical genetics department, Nantes, France
611 rdf:type schema:Organization
612 https://www.grid.ac/institutes/grid.29857.31 schema:alternateName Pennsylvania State University
613 schema:name Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA
614 rdf:type schema:Organization
615 https://www.grid.ac/institutes/grid.31151.37 schema:alternateName Centre Hospitalier Regional Universitaire De Dijon
616 schema:name Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France
617 Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France
618 rdf:type schema:Organization
619 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
620 schema:name Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
621 rdf:type schema:Organization
622 https://www.grid.ac/institutes/grid.411374.4 schema:alternateName Centre Hospitalier Universitaire de Liège
623 schema:name Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium
624 rdf:type schema:Organization
625 https://www.grid.ac/institutes/grid.411414.5 schema:alternateName Antwerp University Hospital
626 schema:name Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium
627 rdf:type schema:Organization
628 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
629 schema:name Hopital La Pitie Salpetriere, Paris, France
630 rdf:type schema:Organization
631 https://www.grid.ac/institutes/grid.411477.0 schema:alternateName Azienda Ospedaliera Universitaria Senese
632 schema:name Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy
633 Medical Genetics, University of Siena, Siena, Italy
634 rdf:type schema:Organization
635 https://www.grid.ac/institutes/grid.411777.3 schema:alternateName Bretonneau Hospital
636 schema:name Department of genetics, Bretonneau university hospital, Tours, France
637 rdf:type schema:Organization
638 https://www.grid.ac/institutes/grid.412748.c schema:alternateName St. George's University
639 schema:name Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA
640 St. George’s University School of Medicine, True Blue Point, Grenada
641 rdf:type schema:Organization
642 https://www.grid.ac/institutes/grid.414184.c schema:alternateName Hôpital Jeanne de Flandre
643 schema:name Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France
644 rdf:type schema:Organization
645 https://www.grid.ac/institutes/grid.416107.5 schema:alternateName Royal Children's Hospital
646 schema:name Department of Paediatrics, Royal Children’s Hospital, Murdoch Children’s Research Institute and University of Melbourne, Melbourne, Australia
647 rdf:type schema:Organization
648 https://www.grid.ac/institutes/grid.418307.9 schema:alternateName Greenwood Genetic Center
649 schema:name Greenwood Genetic Center, Greenwood, SC, USA
650 rdf:type schema:Organization
651 https://www.grid.ac/institutes/grid.457374.6 schema:alternateName Délégation Grand-Ouest
652 schema:name CHU Nantes, Medical genetics department, Nantes, France
653 INSERM, UMR1238, Bone sarcoma and remodeling of calcified tissue, Nantes, France
654 rdf:type schema:Organization
655 https://www.grid.ac/institutes/grid.8158.4 schema:alternateName University of Catania
656 schema:name Medical Genetics, University of Catania School of Medicine, Catania, Italy
657 Oasi Research Institute–IRCCS, Troina, Italy
658 rdf:type schema:Organization
659 https://www.grid.ac/institutes/grid.9851.5 schema:alternateName University of Lausanne
660 schema:name Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
661 rdf:type schema:Organization
 




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


...