KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-06

AUTHORS

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

ABSTRACT

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with KIF7 mutations. KIF7 is also a likely contributor of alleles across the ciliopathy spectrum, as sequencing of a diverse cohort identified several missense mutations detrimental to protein function. In addition, in vivo genetic interaction studies indicated that knockdown of KIF7 could exacerbate the phenotype induced by knockdown of other ciliopathy transcripts. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. More... »

PAGES

601

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.826

DOI

http://dx.doi.org/10.1038/ng.826

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020365937

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21552264


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Acrocallosal Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cerebral Ventricles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cilia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Consanguinity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hand Deformities, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heart Defects, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hedgehog Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hydrocephalus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kinesin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Magnetic Resonance Imaging", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Putoux", 
        "givenName": "Audrey", 
        "id": "sg:person.0662217443.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662217443.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thomas", 
        "givenName": "Sophie", 
        "id": "sg:person.013055414007.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055414007.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Radboud University Nijmegen Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.10417.33", 
          "name": [
            "Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Coene", 
        "givenName": "Karlien L M", 
        "id": "sg:person.0721707065.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721707065.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Duke University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.189509.c", 
          "name": [
            "Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.", 
            "Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Davis", 
        "givenName": "Erica E", 
        "id": "sg:person.013142226242.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013142226242.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alanay", 
        "givenName": "Yasemin", 
        "id": "sg:person.01157067411.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ondokuz May\u0131s University", 
          "id": "https://www.grid.ac/institutes/grid.411049.9", 
          "name": [
            "Ondokuz Mayis University, Department of Medical/Pediatric Genetics, Samsun, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogur", 
        "givenName": "G\u00f6n\u00fcl", 
        "id": "sg:person.01144102302.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144102302.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Gene Mapping Laboratory, Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Uz", 
        "givenName": "Elif", 
        "id": "sg:person.01225475260.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225475260.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Buzas", 
        "givenName": "Daniela", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gomes", 
        "givenName": "C\u00e9line", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Armand Trousseau", 
          "id": "https://www.grid.ac/institutes/grid.413776.0", 
          "name": [
            "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Patrier", 
        "givenName": "Sophie", 
        "id": "sg:person.0640546516.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640546516.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ondokuz May\u0131s University", 
          "id": "https://www.grid.ac/institutes/grid.411049.9", 
          "name": [
            "Ondokuz Mayis University, Department of Medical/Pediatric Genetics, Samsun, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bennett", 
        "givenName": "Christopher L", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Elkhartoufi", 
        "givenName": "Nadia", 
        "id": "sg:person.01303323422.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303323422.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Victor Dupouy", 
          "id": "https://www.grid.ac/institutes/grid.414474.6", 
          "name": [
            "Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Frison", 
        "givenName": "Marie-H\u00e9l\u00e8ne Saint", 
        "id": "sg:person.01311173236.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311173236.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de Gyn\u00e9cologie-Obst\u00e9trique, Centre Hospitalier (CH) Sud Francilien, Evry, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rigonnot", 
        "givenName": "Luc", 
        "id": "sg:person.01357306436.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357306436.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sorbonne University", 
          "id": "https://www.grid.ac/institutes/grid.462844.8", 
          "name": [
            "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France.", 
            "Universit\u00e9 Pierre et Marie Curie, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Joy\u00e9", 
        "givenName": "Nicole", 
        "id": "sg:person.016673155264.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016673155264.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pruvost", 
        "givenName": "Solenn", 
        "id": "sg:person.01010062352.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010062352.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Utine", 
        "givenName": "Gulen Eda", 
        "id": "sg:person.01117331017.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boduroglu", 
        "givenName": "Koray", 
        "id": "sg:person.01103634254.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103634254.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nitschke", 
        "givenName": "Patrick", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fertitta", 
        "givenName": "Laura", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Service de G\u00e9n\u00e9tique, CHU de Dijon, Dijon, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thauvin-Robinet", 
        "givenName": "Christel", 
        "id": "sg:person.01056047406.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056047406.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Munnich", 
        "givenName": "Arnold", 
        "id": "sg:person.01161470727.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161470727.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cormier-Daire", 
        "givenName": "Val\u00e9rie", 
        "id": "sg:person.01131140550.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hennekam", 
        "givenName": "Raoul", 
        "id": "sg:person.01354615474.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354615474.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de G\u00e9n\u00e9tique, H\u00f4pital d'Angers, Angers, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Colin", 
        "givenName": "Estelle", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Gene Mapping Laboratory, Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Akarsu", 
        "givenName": "Nurten Ayse", 
        "id": "sg:person.0630133713.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630133713.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Genomic Core Facility, Imagine Fondation, H\u00f4pital Necker-Enfants Malades, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bole-Feysot", 
        "givenName": "Christine", 
        "id": "sg:person.01324351512.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Service de Bioinformatique, Universit\u00e9 Paris Descartes, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cagnard", 
        "givenName": "Nicolas", 
        "id": "sg:person.0747515131.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747515131.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Cochin", 
          "id": "https://www.grid.ac/institutes/grid.462098.1", 
          "name": [
            "CNRS UMR 8104, Institut Cochin, Universit\u00e9 Paris Descartes, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schmitt", 
        "givenName": "Alain", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "IFR 94, Facult\u00e9 de M\u00e9decine Necker, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Goudin", 
        "givenName": "Nicolas", 
        "id": "sg:person.01117305423.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117305423.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lyonnet", 
        "givenName": "Stanislas", 
        "id": "sg:person.01177147171.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Encha-Razavi", 
        "givenName": "F\u00e9recht\u00e9", 
        "id": "sg:person.01347423620.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347423620.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sorbonne University", 
          "id": "https://www.grid.ac/institutes/grid.462844.8", 
          "name": [
            "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France.", 
            "Universit\u00e9 Pierre et Marie Curie, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Siffroi", 
        "givenName": "Jean-Pierre", 
        "id": "sg:person.01064043521.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064043521.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Colorado Boulder", 
          "id": "https://www.grid.ac/institutes/grid.266190.a", 
          "name": [
            "Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Winey", 
        "givenName": "Mark", 
        "id": "sg:person.01351273155.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351273155.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Duke University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.189509.c", 
          "name": [
            "Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.", 
            "Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Katsanis", 
        "givenName": "Nicholas", 
        "id": "sg:person.01066263150.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066263150.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sorbonne University", 
          "id": "https://www.grid.ac/institutes/grid.462844.8", 
          "name": [
            "Service de G\u00e9n\u00e9tique et d'Embryologie M\u00e9dicales, H\u00f4pital Armand Trousseau, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Paris, France.", 
            "Universit\u00e9 Pierre et Marie Curie, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gonzales", 
        "givenName": "Marie", 
        "id": "sg:person.01004742043.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004742043.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vekemans", 
        "givenName": "Michel", 
        "id": "sg:person.01244712422.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244712422.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Beales", 
        "givenName": "Philip L", 
        "id": "sg:person.07410601737.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410601737.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France.", 
            "Universit\u00e9 Ren\u00e9 Descartes, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Atti\u00e9-Bitach", 
        "givenName": "Tania", 
        "id": "sg:person.0636115230.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636115230.62"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ajmg.c.30231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002176879"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.30231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002176879"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79951", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007182261", 
          "https://doi.org/10.1038/79951"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79951", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007182261", 
          "https://doi.org/10.1038/79951"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1000219107", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008108841"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddi157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008617049"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1981.tb00718.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010376552"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04370", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015112636", 
          "https://doi.org/10.1038/nature04370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04370", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015112636", 
          "https://doi.org/10.1038/nature04370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature04370", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015112636", 
          "https://doi.org/10.1038/nature04370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08895", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016398543", 
          "https://doi.org/10.1038/nature08895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08895", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016398543", 
          "https://doi.org/10.1038/nature08895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320060308", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018904023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0960-9822(03)00461-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019159845"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0960-9822(03)00461-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019159845"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80331-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019753464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.1810409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025172628"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.1546307", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029065228"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.594", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031002347", 
          "https://doi.org/10.1038/ng.594"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.594", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031002347", 
          "https://doi.org/10.1038/ng.594"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2039", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033385115", 
          "https://doi.org/10.1038/ng2039"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-213x-2-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034322166", 
          "https://doi.org/10.1186/1471-213x-2-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0906944106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035626273"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/scisignal.2000405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037859139"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.97", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038326482", 
          "https://doi.org/10.1038/ng.97"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2009.06.046", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040315437"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1986.tb01897.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041522202"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1091/mbc.e09-06-0503", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043050072"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.01606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044463230"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.01606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044463230"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.756", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046869860", 
          "https://doi.org/10.1038/ng.756"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature07883", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047609318", 
          "https://doi.org/10.1038/nature07883"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature07883", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047609318", 
          "https://doi.org/10.1038/nature07883"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2774", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047735807", 
          "https://doi.org/10.1038/nrg2774"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2774", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047735807", 
          "https://doi.org/10.1038/nrg2774"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2003.12.047", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051556568"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.366", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053591273", 
          "https://doi.org/10.1038/ng.366"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2011-06", 
    "datePublishedReg": "2011-06-01", 
    "description": "KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with KIF7 mutations. KIF7 is also a likely contributor of alleles across the ciliopathy spectrum, as sequencing of a diverse cohort identified several missense mutations detrimental to protein function. In addition, in vivo genetic interaction studies indicated that knockdown of KIF7 could exacerbate the phenotype induced by knockdown of other ciliopathy transcripts. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng.826", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2498792", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2559380", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6377187", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.4117163", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2526674", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.3712555", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2499110", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2773239", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "43"
      }
    ], 
    "name": "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes", 
    "pagination": "601", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "6109c4ae74ab368498e84468e7a7edb3c86aea18f66b0ec3e8d4445170855b73"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "21552264"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.826"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1020365937"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.826", 
      "https://app.dimensions.ai/details/publication/pub.1020365937"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:58", 
    "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/v90/0000000001_0000000264/records_8678_00000435.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/ng.826"
  }
]
 

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

HOW TO GET THIS DATA PROGRAMMATICALLY:

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

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.826'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.826'


 

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

566 TRIPLES      21 PREDICATES      75 URIs      40 LITERALS      28 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.826 schema:about N0092b76efbd3420e983bc2c8df3387fb
2 N10720a5114804bb19521ff307f6be785
3 N261e0bbdc8db4a4b858d44f2546d0b0a
4 N317377b279f7477db8fc8d4ddc46c947
5 N3a90bc81606841c38324bd1c87941a56
6 N3ba790438d764c39a13eadc086962555
7 N410c571fac8b438b81bfd3cd927b09c1
8 N68147e859e8041368aba6ac7ed170188
9 N709bf422119f44bb8a782972de74ea65
10 N748069cedc3a48209622669a8bfd41df
11 N8a1ac21fb7ab4a78b056b33f185e0916
12 N8dd1b6bb2d424337ae03732219880bd2
13 N908ed84853754afab253ce5c0a147ecb
14 Nbbd5d9d69ef940008b26e41eb2e39113
15 Nc2f9c9b9399a41f2b1d615c778b96712
16 Nd4892eaf07764bb480e4e933829a8747
17 Ne7f9f321bc9148acaa6f11aa9b5891a4
18 Nf5f24297692a4b5bab5da111323663b2
19 Nf60a4ba343e94612bc969c8beca70987
20 anzsrc-for:06
21 anzsrc-for:0604
22 schema:author N33e7fdac7a7d4eb7b052fbe7df6d4c8c
23 schema:citation sg:pub.10.1038/79951
24 sg:pub.10.1038/nature04370
25 sg:pub.10.1038/nature07883
26 sg:pub.10.1038/nature08895
27 sg:pub.10.1038/ng.366
28 sg:pub.10.1038/ng.594
29 sg:pub.10.1038/ng.756
30 sg:pub.10.1038/ng.97
31 sg:pub.10.1038/ng2039
32 sg:pub.10.1038/nrg2774
33 sg:pub.10.1186/1471-213x-2-4
34 https://doi.org/10.1002/ajmg.1320060308
35 https://doi.org/10.1002/ajmg.c.30231
36 https://doi.org/10.1016/j.cub.2003.12.047
37 https://doi.org/10.1016/j.cub.2009.06.046
38 https://doi.org/10.1016/s0092-8674(00)80331-1
39 https://doi.org/10.1016/s0960-9822(03)00461-5
40 https://doi.org/10.1073/pnas.0906944106
41 https://doi.org/10.1073/pnas.1000219107
42 https://doi.org/10.1091/mbc.e09-06-0503
43 https://doi.org/10.1093/hmg/ddi157
44 https://doi.org/10.1101/gad.1546307
45 https://doi.org/10.1101/gad.1810409
46 https://doi.org/10.1111/j.1399-0004.1981.tb00718.x
47 https://doi.org/10.1111/j.1399-0004.1986.tb01897.x
48 https://doi.org/10.1126/scisignal.2000405
49 https://doi.org/10.1242/dev.01606
50 schema:datePublished 2011-06
51 schema:datePublishedReg 2011-06-01
52 schema:description KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI transcription factor targets and impaired GLI3 processing in tissues from individuals with KIF7 mutations. KIF7 is also a likely contributor of alleles across the ciliopathy spectrum, as sequencing of a diverse cohort identified several missense mutations detrimental to protein function. In addition, in vivo genetic interaction studies indicated that knockdown of KIF7 could exacerbate the phenotype induced by knockdown of other ciliopathy transcripts. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
53 schema:genre research_article
54 schema:inLanguage en
55 schema:isAccessibleForFree true
56 schema:isPartOf N6af298ac22f8455faf3fa7bb0c1bf985
57 Na4b5d5741b8640ceb3a9349d8319a49a
58 sg:journal.1103138
59 schema:name KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
60 schema:pagination 601
61 schema:productId Na30100b70d184f27b61b46e115c858b6
62 Na586ec1e031147f3bf76b06638cfb266
63 Nba363071cbbb4eab99d88885469b12ed
64 Ndc0b8dd5be4c4c97aeef906a71cf299a
65 Ne3c34f43290547ed8aa2eaa5d5153b4b
66 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020365937
67 https://doi.org/10.1038/ng.826
68 schema:sdDatePublished 2019-04-10T18:58
69 schema:sdLicense https://scigraph.springernature.com/explorer/license/
70 schema:sdPublisher N805a08d006fe4b64b2d78ddd8c790dcb
71 schema:url https://www.nature.com/articles/ng.826
72 sgo:license sg:explorer/license/
73 sgo:sdDataset articles
74 rdf:type schema:ScholarlyArticle
75 N004855553b0a4e19b0596e9dea6248ef rdf:first sg:person.01144102302.35
76 rdf:rest Nd41751b2e3fe4d58b04d2428b9b944e6
77 N0092b76efbd3420e983bc2c8df3387fb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
78 schema:name Hydrocephalus
79 rdf:type schema:DefinedTerm
80 N046dad83b5264988856681913ca8badf schema:affiliation Ne485b54596484ebcb36528f417970ed2
81 schema:familyName Colin
82 schema:givenName Estelle
83 rdf:type schema:Person
84 N04b7ca0eca6b4597872d7faf1e78b49c rdf:first sg:person.01004742043.29
85 rdf:rest N363437807c2b4dfcac7d0a88575cd290
86 N0cfa4d92587946ec8314be6961c8da78 schema:name Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France.
87 rdf:type schema:Organization
88 N0e0b87fe82e644a3849b22a75c824806 rdf:first sg:person.013055414007.57
89 rdf:rest N7efc26e5cbab456c9a13d915bb0878b1
90 N10720a5114804bb19521ff307f6be785 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Child, Preschool
92 rdf:type schema:DefinedTerm
93 N1925de7dbf9d43e59e327c0b1613dd14 rdf:first sg:person.01357306436.78
94 rdf:rest Nf2efbf4b74f841338d5da479d6dd265d
95 N1a0658310b39449fb37a1b63ef67c8fb schema:name Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
96 rdf:type schema:Organization
97 N20705d7906fe43739bbf07dfcd6ce4ef rdf:first sg:person.01161470727.47
98 rdf:rest N4af3a46fd75046b99dbaad477d407161
99 N261e0bbdc8db4a4b858d44f2546d0b0a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Male
101 rdf:type schema:DefinedTerm
102 N30be3313ffd7418195e423d1b6313807 schema:affiliation https://www.grid.ac/institutes/grid.411049.9
103 schema:familyName Bennett
104 schema:givenName Christopher L
105 rdf:type schema:Person
106 N317377b279f7477db8fc8d4ddc46c947 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Magnetic Resonance Imaging
108 rdf:type schema:DefinedTerm
109 N33e7fdac7a7d4eb7b052fbe7df6d4c8c rdf:first sg:person.0662217443.29
110 rdf:rest N0e0b87fe82e644a3849b22a75c824806
111 N363437807c2b4dfcac7d0a88575cd290 rdf:first sg:person.01244712422.57
112 rdf:rest Ne31039f1b7864cd3b735366cca7ea0f1
113 N3a90bc81606841c38324bd1c87941a56 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Adolescent
115 rdf:type schema:DefinedTerm
116 N3ba790438d764c39a13eadc086962555 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Acrocallosal Syndrome
118 rdf:type schema:DefinedTerm
119 N410c571fac8b438b81bfd3cd927b09c1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Female
121 rdf:type schema:DefinedTerm
122 N4af3a46fd75046b99dbaad477d407161 rdf:first sg:person.01131140550.50
123 rdf:rest Nae0c30dc5d574a7ca0f69886344ced7c
124 N50fbf50694eb41ba82c76036d05b33aa rdf:first sg:person.0747515131.18
125 rdf:rest N67c6b1c906604594991c6c3983c2a50e
126 N5d4d82b8e0c54004a5b4a155ed80632d rdf:first sg:person.01010062352.83
127 rdf:rest N892870ffc8f9489ab3213542b2545afb
128 N608d002ac58b41f0bb97e711a8d5aa98 rdf:first sg:person.01324351512.85
129 rdf:rest N50fbf50694eb41ba82c76036d05b33aa
130 N62af52a4cefb4e218691ab3e39ec6d14 schema:affiliation https://www.grid.ac/institutes/grid.462098.1
131 schema:familyName Schmitt
132 schema:givenName Alain
133 rdf:type schema:Person
134 N67c6b1c906604594991c6c3983c2a50e rdf:first N62af52a4cefb4e218691ab3e39ec6d14
135 rdf:rest N73e09ed94a6d408ca545686acb991dc9
136 N68147e859e8041368aba6ac7ed170188 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Pedigree
138 rdf:type schema:DefinedTerm
139 N6af298ac22f8455faf3fa7bb0c1bf985 schema:issueNumber 6
140 rdf:type schema:PublicationIssue
141 N6d785d115288467a83363a60bd28eb55 rdf:first sg:person.01066263150.73
142 rdf:rest N04b7ca0eca6b4597872d7faf1e78b49c
143 N6e98c2962b06414d99a2b8a5785e3bb0 rdf:first sg:person.01303323422.05
144 rdf:rest Neec30d0fe3de4dd1a22f62e885eed3a8
145 N709bf422119f44bb8a782972de74ea65 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Cerebral Ventricles
147 rdf:type schema:DefinedTerm
148 N73e09ed94a6d408ca545686acb991dc9 rdf:first sg:person.01117305423.00
149 rdf:rest Na9c87969e3b249cf95c71d623a54f360
150 N748069cedc3a48209622669a8bfd41df schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Consanguinity
152 rdf:type schema:DefinedTerm
153 N77f53cf3f821440a8e74fdfaf10c78f7 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
154 schema:familyName Gomes
155 schema:givenName Céline
156 rdf:type schema:Person
157 N7d3079ba7edf4a4ca4e93c9d18cfe044 schema:name Service de Gynécologie-Obstétrique, Centre Hospitalier (CH) Sud Francilien, Evry, France.
158 rdf:type schema:Organization
159 N7efc26e5cbab456c9a13d915bb0878b1 rdf:first sg:person.0721707065.72
160 rdf:rest Nd5723ddc29db4ae59b33346702f136d5
161 N7f76758a8a034bb19512d3df5b998669 rdf:first N046dad83b5264988856681913ca8badf
162 rdf:rest Nfbc9abc6cd044573931f98bafad098c1
163 N800f282ea11948aa9bf668a1111747cd rdf:first sg:person.01157067411.76
164 rdf:rest N004855553b0a4e19b0596e9dea6248ef
165 N805a08d006fe4b64b2d78ddd8c790dcb schema:name Springer Nature - SN SciGraph project
166 rdf:type schema:Organization
167 N892870ffc8f9489ab3213542b2545afb rdf:first sg:person.01117331017.35
168 rdf:rest Ne61451ef045b48fcb287b97c1d76f1f1
169 N8a1ac21fb7ab4a78b056b33f185e0916 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Kinesin
171 rdf:type schema:DefinedTerm
172 N8dd1b6bb2d424337ae03732219880bd2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Child
174 rdf:type schema:DefinedTerm
175 N8eb52b76a76a40bca062d665de32558f rdf:first Nd69448cb467b4937bf663a5a6b146d27
176 rdf:rest Nb04bb673a2be4faa9e8b48b377215dba
177 N908ed84853754afab253ce5c0a147ecb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Hand Deformities, Congenital
179 rdf:type schema:DefinedTerm
180 N90a9d7be714b4ebd9f0c388154dedfd4 rdf:first Ncf667e39284c46f7966367532fd370a1
181 rdf:rest Nd93ae3fa9c78427085d679a39178856f
182 N975e9703f5e64cc78d10afdb3af648c8 rdf:first sg:person.01351273155.01
183 rdf:rest N6d785d115288467a83363a60bd28eb55
184 N9a1bdd0482204602a73f33c47518ad5c schema:affiliation https://www.grid.ac/institutes/grid.412134.1
185 schema:familyName Fertitta
186 schema:givenName Laura
187 rdf:type schema:Person
188 Na30100b70d184f27b61b46e115c858b6 schema:name readcube_id
189 schema:value 6109c4ae74ab368498e84468e7a7edb3c86aea18f66b0ec3e8d4445170855b73
190 rdf:type schema:PropertyValue
191 Na4b5d5741b8640ceb3a9349d8319a49a schema:volumeNumber 43
192 rdf:type schema:PublicationVolume
193 Na586ec1e031147f3bf76b06638cfb266 schema:name dimensions_id
194 schema:value pub.1020365937
195 rdf:type schema:PropertyValue
196 Na9c87969e3b249cf95c71d623a54f360 rdf:first sg:person.01177147171.55
197 rdf:rest Nf034286a0e5c49e2a78777c0e8278713
198 Nae0c30dc5d574a7ca0f69886344ced7c rdf:first sg:person.01354615474.24
199 rdf:rest N7f76758a8a034bb19512d3df5b998669
200 Nb04bb673a2be4faa9e8b48b377215dba rdf:first N9a1bdd0482204602a73f33c47518ad5c
201 rdf:rest Ncf91ad815f164c569e4b0447886c3245
202 Nb42a8f3375c042e0a80640a10611f0d3 rdf:first sg:person.01064043521.41
203 rdf:rest N975e9703f5e64cc78d10afdb3af648c8
204 Nba363071cbbb4eab99d88885469b12ed schema:name nlm_unique_id
205 schema:value 9216904
206 rdf:type schema:PropertyValue
207 Nbbd5d9d69ef940008b26e41eb2e39113 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
208 schema:name Infant
209 rdf:type schema:DefinedTerm
210 Nc2f9c9b9399a41f2b1d615c778b96712 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
211 schema:name Cilia
212 rdf:type schema:DefinedTerm
213 Ncc49df0ebaf54c0b9d0d51f5c91a1dd5 rdf:first sg:person.0636115230.62
214 rdf:rest rdf:nil
215 Ncf667e39284c46f7966367532fd370a1 schema:affiliation N0cfa4d92587946ec8314be6961c8da78
216 schema:familyName Buzas
217 schema:givenName Daniela
218 rdf:type schema:Person
219 Ncf91ad815f164c569e4b0447886c3245 rdf:first sg:person.01056047406.31
220 rdf:rest N20705d7906fe43739bbf07dfcd6ce4ef
221 Nd41751b2e3fe4d58b04d2428b9b944e6 rdf:first sg:person.01225475260.74
222 rdf:rest N90a9d7be714b4ebd9f0c388154dedfd4
223 Nd4892eaf07764bb480e4e933829a8747 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
224 schema:name Mutation
225 rdf:type schema:DefinedTerm
226 Nd5723ddc29db4ae59b33346702f136d5 rdf:first sg:person.013142226242.77
227 rdf:rest N800f282ea11948aa9bf668a1111747cd
228 Nd69448cb467b4937bf663a5a6b146d27 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
229 schema:familyName Nitschke
230 schema:givenName Patrick
231 rdf:type schema:Person
232 Nd93ae3fa9c78427085d679a39178856f rdf:first N77f53cf3f821440a8e74fdfaf10c78f7
233 rdf:rest Nfcfb9e27626d41c5a8459b3a87b49537
234 Ndc0b8dd5be4c4c97aeef906a71cf299a schema:name doi
235 schema:value 10.1038/ng.826
236 rdf:type schema:PropertyValue
237 Ne31039f1b7864cd3b735366cca7ea0f1 rdf:first sg:person.07410601737.16
238 rdf:rest Ncc49df0ebaf54c0b9d0d51f5c91a1dd5
239 Ne3c34f43290547ed8aa2eaa5d5153b4b schema:name pubmed_id
240 schema:value 21552264
241 rdf:type schema:PropertyValue
242 Ne485b54596484ebcb36528f417970ed2 schema:name Service de Génétique, Hôpital d'Angers, Angers, France.
243 rdf:type schema:Organization
244 Ne61451ef045b48fcb287b97c1d76f1f1 rdf:first sg:person.01103634254.33
245 rdf:rest N8eb52b76a76a40bca062d665de32558f
246 Ne7d939dde4b24c4a9e5fa83ac636cb84 rdf:first N30be3313ffd7418195e423d1b6313807
247 rdf:rest N6e98c2962b06414d99a2b8a5785e3bb0
248 Ne7f9f321bc9148acaa6f11aa9b5891a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
249 schema:name Heart Defects, Congenital
250 rdf:type schema:DefinedTerm
251 Neec30d0fe3de4dd1a22f62e885eed3a8 rdf:first sg:person.01311173236.55
252 rdf:rest N1925de7dbf9d43e59e327c0b1613dd14
253 Nf034286a0e5c49e2a78777c0e8278713 rdf:first sg:person.01347423620.16
254 rdf:rest Nb42a8f3375c042e0a80640a10611f0d3
255 Nf2efbf4b74f841338d5da479d6dd265d rdf:first sg:person.016673155264.10
256 rdf:rest N5d4d82b8e0c54004a5b4a155ed80632d
257 Nf5f24297692a4b5bab5da111323663b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
258 schema:name Humans
259 rdf:type schema:DefinedTerm
260 Nf60a4ba343e94612bc969c8beca70987 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
261 schema:name Hedgehog Proteins
262 rdf:type schema:DefinedTerm
263 Nfbc9abc6cd044573931f98bafad098c1 rdf:first sg:person.0630133713.34
264 rdf:rest N608d002ac58b41f0bb97e711a8d5aa98
265 Nfcfb9e27626d41c5a8459b3a87b49537 rdf:first sg:person.0640546516.74
266 rdf:rest Ne7d939dde4b24c4a9e5fa83ac636cb84
267 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
268 schema:name Biological Sciences
269 rdf:type schema:DefinedTerm
270 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
271 schema:name Genetics
272 rdf:type schema:DefinedTerm
273 sg:grant.2498792 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
274 rdf:type schema:MonetaryGrant
275 sg:grant.2499110 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
276 rdf:type schema:MonetaryGrant
277 sg:grant.2526674 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
278 rdf:type schema:MonetaryGrant
279 sg:grant.2559380 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
280 rdf:type schema:MonetaryGrant
281 sg:grant.2773239 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
282 rdf:type schema:MonetaryGrant
283 sg:grant.3712555 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
284 rdf:type schema:MonetaryGrant
285 sg:grant.4117163 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
286 rdf:type schema:MonetaryGrant
287 sg:grant.6377187 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.826
288 rdf:type schema:MonetaryGrant
289 sg:journal.1103138 schema:issn 1061-4036
290 1546-1718
291 schema:name Nature Genetics
292 rdf:type schema:Periodical
293 sg:person.01004742043.29 schema:affiliation https://www.grid.ac/institutes/grid.462844.8
294 schema:familyName Gonzales
295 schema:givenName Marie
296 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004742043.29
297 rdf:type schema:Person
298 sg:person.01010062352.83 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
299 schema:familyName Pruvost
300 schema:givenName Solenn
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010062352.83
302 rdf:type schema:Person
303 sg:person.01056047406.31 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
304 schema:familyName Thauvin-Robinet
305 schema:givenName Christel
306 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056047406.31
307 rdf:type schema:Person
308 sg:person.01064043521.41 schema:affiliation https://www.grid.ac/institutes/grid.462844.8
309 schema:familyName Siffroi
310 schema:givenName Jean-Pierre
311 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064043521.41
312 rdf:type schema:Person
313 sg:person.01066263150.73 schema:affiliation https://www.grid.ac/institutes/grid.189509.c
314 schema:familyName Katsanis
315 schema:givenName Nicholas
316 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066263150.73
317 rdf:type schema:Person
318 sg:person.01103634254.33 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
319 schema:familyName Boduroglu
320 schema:givenName Koray
321 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103634254.33
322 rdf:type schema:Person
323 sg:person.01117305423.00 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
324 schema:familyName Goudin
325 schema:givenName Nicolas
326 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117305423.00
327 rdf:type schema:Person
328 sg:person.01117331017.35 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
329 schema:familyName Utine
330 schema:givenName Gulen Eda
331 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35
332 rdf:type schema:Person
333 sg:person.01131140550.50 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
334 schema:familyName Cormier-Daire
335 schema:givenName Valérie
336 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50
337 rdf:type schema:Person
338 sg:person.01144102302.35 schema:affiliation https://www.grid.ac/institutes/grid.411049.9
339 schema:familyName Ogur
340 schema:givenName Gönül
341 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144102302.35
342 rdf:type schema:Person
343 sg:person.01157067411.76 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
344 schema:familyName Alanay
345 schema:givenName Yasemin
346 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76
347 rdf:type schema:Person
348 sg:person.01161470727.47 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
349 schema:familyName Munnich
350 schema:givenName Arnold
351 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161470727.47
352 rdf:type schema:Person
353 sg:person.01177147171.55 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
354 schema:familyName Lyonnet
355 schema:givenName Stanislas
356 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55
357 rdf:type schema:Person
358 sg:person.01225475260.74 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
359 schema:familyName Uz
360 schema:givenName Elif
361 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225475260.74
362 rdf:type schema:Person
363 sg:person.01244712422.57 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
364 schema:familyName Vekemans
365 schema:givenName Michel
366 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244712422.57
367 rdf:type schema:Person
368 sg:person.01303323422.05 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
369 schema:familyName Elkhartoufi
370 schema:givenName Nadia
371 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303323422.05
372 rdf:type schema:Person
373 sg:person.013055414007.57 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
374 schema:familyName Thomas
375 schema:givenName Sophie
376 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055414007.57
377 rdf:type schema:Person
378 sg:person.01311173236.55 schema:affiliation https://www.grid.ac/institutes/grid.414474.6
379 schema:familyName Frison
380 schema:givenName Marie-Hélène Saint
381 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01311173236.55
382 rdf:type schema:Person
383 sg:person.013142226242.77 schema:affiliation https://www.grid.ac/institutes/grid.189509.c
384 schema:familyName Davis
385 schema:givenName Erica E
386 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013142226242.77
387 rdf:type schema:Person
388 sg:person.01324351512.85 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
389 schema:familyName Bole-Feysot
390 schema:givenName Christine
391 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85
392 rdf:type schema:Person
393 sg:person.01347423620.16 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
394 schema:familyName Encha-Razavi
395 schema:givenName Férechté
396 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347423620.16
397 rdf:type schema:Person
398 sg:person.01351273155.01 schema:affiliation https://www.grid.ac/institutes/grid.266190.a
399 schema:familyName Winey
400 schema:givenName Mark
401 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351273155.01
402 rdf:type schema:Person
403 sg:person.01354615474.24 schema:affiliation N1a0658310b39449fb37a1b63ef67c8fb
404 schema:familyName Hennekam
405 schema:givenName Raoul
406 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354615474.24
407 rdf:type schema:Person
408 sg:person.01357306436.78 schema:affiliation N7d3079ba7edf4a4ca4e93c9d18cfe044
409 schema:familyName Rigonnot
410 schema:givenName Luc
411 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357306436.78
412 rdf:type schema:Person
413 sg:person.016673155264.10 schema:affiliation https://www.grid.ac/institutes/grid.462844.8
414 schema:familyName Joyé
415 schema:givenName Nicole
416 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016673155264.10
417 rdf:type schema:Person
418 sg:person.0630133713.34 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
419 schema:familyName Akarsu
420 schema:givenName Nurten Ayse
421 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630133713.34
422 rdf:type schema:Person
423 sg:person.0636115230.62 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
424 schema:familyName Attié-Bitach
425 schema:givenName Tania
426 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636115230.62
427 rdf:type schema:Person
428 sg:person.0640546516.74 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
429 schema:familyName Patrier
430 schema:givenName Sophie
431 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640546516.74
432 rdf:type schema:Person
433 sg:person.0662217443.29 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
434 schema:familyName Putoux
435 schema:givenName Audrey
436 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662217443.29
437 rdf:type schema:Person
438 sg:person.0721707065.72 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
439 schema:familyName Coene
440 schema:givenName Karlien L M
441 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721707065.72
442 rdf:type schema:Person
443 sg:person.07410601737.16 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
444 schema:familyName Beales
445 schema:givenName Philip L
446 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07410601737.16
447 rdf:type schema:Person
448 sg:person.0747515131.18 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
449 schema:familyName Cagnard
450 schema:givenName Nicolas
451 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747515131.18
452 rdf:type schema:Person
453 sg:pub.10.1038/79951 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007182261
454 https://doi.org/10.1038/79951
455 rdf:type schema:CreativeWork
456 sg:pub.10.1038/nature04370 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015112636
457 https://doi.org/10.1038/nature04370
458 rdf:type schema:CreativeWork
459 sg:pub.10.1038/nature07883 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047609318
460 https://doi.org/10.1038/nature07883
461 rdf:type schema:CreativeWork
462 sg:pub.10.1038/nature08895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016398543
463 https://doi.org/10.1038/nature08895
464 rdf:type schema:CreativeWork
465 sg:pub.10.1038/ng.366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053591273
466 https://doi.org/10.1038/ng.366
467 rdf:type schema:CreativeWork
468 sg:pub.10.1038/ng.594 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031002347
469 https://doi.org/10.1038/ng.594
470 rdf:type schema:CreativeWork
471 sg:pub.10.1038/ng.756 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046869860
472 https://doi.org/10.1038/ng.756
473 rdf:type schema:CreativeWork
474 sg:pub.10.1038/ng.97 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038326482
475 https://doi.org/10.1038/ng.97
476 rdf:type schema:CreativeWork
477 sg:pub.10.1038/ng2039 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033385115
478 https://doi.org/10.1038/ng2039
479 rdf:type schema:CreativeWork
480 sg:pub.10.1038/nrg2774 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047735807
481 https://doi.org/10.1038/nrg2774
482 rdf:type schema:CreativeWork
483 sg:pub.10.1186/1471-213x-2-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034322166
484 https://doi.org/10.1186/1471-213x-2-4
485 rdf:type schema:CreativeWork
486 https://doi.org/10.1002/ajmg.1320060308 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018904023
487 rdf:type schema:CreativeWork
488 https://doi.org/10.1002/ajmg.c.30231 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002176879
489 rdf:type schema:CreativeWork
490 https://doi.org/10.1016/j.cub.2003.12.047 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051556568
491 rdf:type schema:CreativeWork
492 https://doi.org/10.1016/j.cub.2009.06.046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040315437
493 rdf:type schema:CreativeWork
494 https://doi.org/10.1016/s0092-8674(00)80331-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019753464
495 rdf:type schema:CreativeWork
496 https://doi.org/10.1016/s0960-9822(03)00461-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019159845
497 rdf:type schema:CreativeWork
498 https://doi.org/10.1073/pnas.0906944106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035626273
499 rdf:type schema:CreativeWork
500 https://doi.org/10.1073/pnas.1000219107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008108841
501 rdf:type schema:CreativeWork
502 https://doi.org/10.1091/mbc.e09-06-0503 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043050072
503 rdf:type schema:CreativeWork
504 https://doi.org/10.1093/hmg/ddi157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008617049
505 rdf:type schema:CreativeWork
506 https://doi.org/10.1101/gad.1546307 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029065228
507 rdf:type schema:CreativeWork
508 https://doi.org/10.1101/gad.1810409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025172628
509 rdf:type schema:CreativeWork
510 https://doi.org/10.1111/j.1399-0004.1981.tb00718.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1010376552
511 rdf:type schema:CreativeWork
512 https://doi.org/10.1111/j.1399-0004.1986.tb01897.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1041522202
513 rdf:type schema:CreativeWork
514 https://doi.org/10.1126/scisignal.2000405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037859139
515 rdf:type schema:CreativeWork
516 https://doi.org/10.1242/dev.01606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044463230
517 rdf:type schema:CreativeWork
518 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
519 schema:name Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
520 rdf:type schema:Organization
521 https://www.grid.ac/institutes/grid.10992.33 schema:alternateName Paris Descartes University
522 schema:name IFR 94, Faculté de Médecine Necker, Paris, France.
523 INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.
524 Service de Bioinformatique, Université Paris Descartes, Paris, France.
525 Université René Descartes, Paris, France.
526 rdf:type schema:Organization
527 https://www.grid.ac/institutes/grid.14442.37 schema:alternateName Hacettepe University
528 schema:name Gene Mapping Laboratory, Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey.
529 Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.
530 rdf:type schema:Organization
531 https://www.grid.ac/institutes/grid.189509.c schema:alternateName Duke University Hospital
532 schema:name Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.
533 Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA.
534 Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
535 rdf:type schema:Organization
536 https://www.grid.ac/institutes/grid.266190.a schema:alternateName University of Colorado Boulder
537 schema:name Molecular, Cellular and Developmental Biology, University of Colorado at Boulder, Boulder, Colorado, USA.
538 rdf:type schema:Organization
539 https://www.grid.ac/institutes/grid.31151.37 schema:alternateName Centre Hospitalier Regional Universitaire De Dijon
540 schema:name Service de Génétique, CHU de Dijon, Dijon, France.
541 rdf:type schema:Organization
542 https://www.grid.ac/institutes/grid.411049.9 schema:alternateName Ondokuz Mayıs University
543 schema:name Ondokuz Mayis University, Department of Medical/Pediatric Genetics, Samsun, Turkey.
544 rdf:type schema:Organization
545 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
546 schema:name Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
547 Genomic Core Facility, Imagine Fondation, Hôpital Necker-Enfants Malades, Paris, France.
548 INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.
549 Université René Descartes, Paris, France.
550 rdf:type schema:Organization
551 https://www.grid.ac/institutes/grid.413776.0 schema:alternateName Hôpital Armand Trousseau
552 schema:name Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
553 rdf:type schema:Organization
554 https://www.grid.ac/institutes/grid.414474.6 schema:alternateName Centre Hospitalier Victor Dupouy
555 schema:name Service d'Anatomie et Cytologie Pathologiques, CH Victor Dupouy, Argenteuil, France.
556 rdf:type schema:Organization
557 https://www.grid.ac/institutes/grid.462098.1 schema:alternateName Institut Cochin
558 schema:name CNRS UMR 8104, Institut Cochin, Université Paris Descartes, Paris, France.
559 rdf:type schema:Organization
560 https://www.grid.ac/institutes/grid.462844.8 schema:alternateName Sorbonne University
561 schema:name Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
562 Université Pierre et Marie Curie, Paris, France.
563 rdf:type schema:Organization
564 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
565 schema:name Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK.
566 rdf:type schema:Organization
 




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


...