The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-08-26

AUTHORS

David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, , Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler, Bert BA de Vries

ABSTRACT

The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype. More... »

PAGES

652-659

References to SciGraph publications

Journal

TITLE

European Journal of Human Genetics

ISSUE

5

VOLUME

24

Author Affiliations

  • Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
  • Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
  • Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  • Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA
  • Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal
  • Institut für Humangenetik, University of Luebeck, Luebeck, Germany
  • Genetics Department, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA
  • Department of Human Genetics, University of Chicago, Chicago, IL, USA
  • Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
  • St Luke's Pediatric Associates, Duluth, MN, USA
  • Department of Pediatrics and Medicine, Columbia University, New York, NY, USA
  • Counties Manukau District Health Board, South Auckland, New Zealand
  • Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria
  • Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy
  • Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK
  • Department of genetics, Yale University School of Medicine, New Haven, CT, USA
  • Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
  • Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
  • Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
  • Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands
  • Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
  • Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK
  • Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
  • Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA
  • Nacogdoches Pediatrics, Nacogdoches, TX, USA
  • Clinical Genetics, Nottingham City Hospital, Nottingham, UK
  • Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK
  • Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA
  • Genetic Health Queensland, Royal Brisbane and Women’s Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia
  • Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
  • Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain
  • Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
  • Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia
  • School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia
  • Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2015.178

    DOI

    http://dx.doi.org/10.1038/ejhg.2015.178

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002562136

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26306646


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Abnormalities, Multiple", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adolescent", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adult", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosome Deletion", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 17", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Intellectual Disability", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nuclear Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Koolen", 
            "givenName": "David A", 
            "id": "sg:person.01244562251.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244562251.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pfundt", 
            "givenName": "Rolph", 
            "id": "sg:person.01165726761.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165726761.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Linda", 
            "givenName": "Katrin", 
            "id": "sg:person.013042557313.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013042557313.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.16872.3a", 
              "name": [
                "Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Beunders", 
            "givenName": "Gea", 
            "id": "sg:person.0764710730.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764710730.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.4494.d", 
              "name": [
                "Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Veenstra-Knol", 
            "givenName": "Hermine E", 
            "id": "sg:person.01116326257.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116326257.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA", 
              "id": "http://www.grid.ac/institutes/grid.240741.4", 
              "name": [
                "Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Conta", 
            "givenName": "Jessie H", 
            "id": "sg:person.0610672766.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610672766.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Unidade de Gen\u00e9tica M\u00e9dica, Centro de Gen\u00e9tica M\u00e9dica Dr Jacinto Magalh\u00e3es, Centro Hospitalar do Porto, Porto, Portugal", 
              "id": "http://www.grid.ac/institutes/grid.418340.a", 
              "name": [
                "Unidade de Gen\u00e9tica M\u00e9dica, Centro de Gen\u00e9tica M\u00e9dica Dr Jacinto Magalh\u00e3es, Centro Hospitalar do Porto, Porto, Portugal"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fortuna", 
            "givenName": "Ana Maria", 
            "id": "sg:person.01207540231.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207540231.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institut f\u00fcr Humangenetik, University of Luebeck, Luebeck, Germany", 
              "id": "http://www.grid.ac/institutes/grid.4562.5", 
              "name": [
                "Institut f\u00fcr Humangenetik, University of Luebeck, Luebeck, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gillessen-Kaesbach", 
            "givenName": "Gabriele", 
            "id": "sg:person.0631154620.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631154620.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genetics Department, Children\u2019s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA", 
              "id": "http://www.grid.ac/institutes/grid.418506.e", 
              "name": [
                "Genetics Department, Children\u2019s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dugan", 
            "givenName": "Sarah", 
            "id": "sg:person.01170651455.88", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170651455.88"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, University of Chicago, Chicago, IL, USA", 
              "id": "http://www.grid.ac/institutes/grid.170205.1", 
              "name": [
                "Department of Human Genetics, University of Chicago, Chicago, IL, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Halbach", 
            "givenName": "Sara", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA", 
              "id": "http://www.grid.ac/institutes/grid.410721.1", 
              "name": [
                "Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Abdul-Rahman", 
            "givenName": "Omar A", 
            "id": "sg:person.01074752006.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074752006.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St Luke's Pediatric Associates, Duluth, MN, USA", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "St Luke's Pediatric Associates, Duluth, MN, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Winesett", 
            "givenName": "Heather M", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics and Medicine, Columbia University, New York, NY, USA", 
              "id": "http://www.grid.ac/institutes/grid.21729.3f", 
              "name": [
                "Department of Pediatrics and Medicine, Columbia University, New York, NY, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chung", 
            "givenName": "Wendy K", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Counties Manukau District Health Board, South Auckland, New Zealand", 
              "id": "http://www.grid.ac/institutes/grid.413188.7", 
              "name": [
                "Counties Manukau District Health Board, South Auckland, New Zealand"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dalton", 
            "givenName": "Marguerite", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dimova", 
            "givenName": "Petia S", 
            "id": "sg:person.01126520321.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126520321.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy", 
              "id": "http://www.grid.ac/institutes/grid.8158.4", 
              "name": [
                "Department of Pediatrics, Medical Genetics University of Catania, 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": "Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Prescott", 
            "givenName": "Katrina", 
            "id": "sg:person.01250373210.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250373210.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of genetics, Yale University School of Medicine, New Haven, CT, USA", 
              "id": "http://www.grid.ac/institutes/grid.47100.32", 
              "name": [
                "Department of genetics, Yale University School of Medicine, New Haven, CT, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zhang", 
            "givenName": "Hui Z", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA", 
              "id": "http://www.grid.ac/institutes/grid.239573.9", 
              "name": [
                "Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Saal", 
            "givenName": "Howard M", 
            "id": "sg:person.0624302643.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624302643.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hehir-Kwa", 
            "givenName": "Jayne Y", 
            "id": "sg:person.01106475777.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106475777.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Willemsen", 
            "givenName": "Marjolein H", 
            "id": "sg:person.011512310764.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011512310764.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ockeloen", 
            "givenName": "Charlotte W", 
            "id": "sg:person.0715220567.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715220567.52"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jongmans", 
            "givenName": "Marjolijn C", 
            "id": "sg:person.07573632574.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07573632574.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, University of Antwerp, Antwerp, Belgium", 
              "id": "http://www.grid.ac/institutes/grid.5284.b", 
              "name": [
                "Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Van der Aa", 
            "givenName": "Nathalie", 
            "id": "sg:person.0702117137.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0702117137.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Failla", 
            "givenName": "Pinella", 
            "id": "sg:person.01001201267.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001201267.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Barone", 
            "givenName": "Concetta", 
            "id": "sg:person.01325600663.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325600663.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, 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": "Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.416135.4", 
              "name": [
                "Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brooks", 
            "givenName": "Alice S", 
            "id": "sg:person.011240117052.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011240117052.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kant", 
            "givenName": "Sarina G", 
            "id": "sg:person.0701712537.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701712537.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.4494.d", 
              "name": [
                "Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gerkes", 
            "givenName": "Erica H", 
            "id": "sg:person.01300670057.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300670057.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.120073.7", 
              "name": [
                "Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Firth", 
            "givenName": "Helen V", 
            "id": "sg:person.0673751210.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673751210.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia", 
              "id": "http://www.grid.ac/institutes/grid.412269.a", 
              "name": [
                "Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "\u00d5unap", 
            "givenName": "Katrin", 
            "id": "sg:person.01315013031.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315013031.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA", 
              "id": "http://www.grid.ac/institutes/grid.286440.c", 
              "name": [
                "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bird", 
            "givenName": "Lynne M", 
            "id": "sg:person.0663101125.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663101125.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA", 
              "id": "http://www.grid.ac/institutes/grid.286440.c", 
              "name": [
                "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Masser-Frye", 
            "givenName": "Diane", 
            "id": "sg:person.01217721267.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217721267.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA", 
              "id": "http://www.grid.ac/institutes/grid.286440.c", 
              "name": [
                "Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Friedman", 
            "givenName": "Jennifer R", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Nacogdoches Pediatrics, Nacogdoches, TX, USA", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Nacogdoches Pediatrics, Nacogdoches, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sokunbi", 
            "givenName": "Modupe A", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Nottingham City Hospital, Nottingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.412920.c", 
              "name": [
                "Clinical Genetics, Nottingham City Hospital, Nottingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dixit", 
            "givenName": "Abhijit", 
            "id": "sg:person.016343656563.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016343656563.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Splitt", 
            "givenName": "Miranda", 
            "type": "Person"
          }, 
          {}, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA", 
              "id": "http://www.grid.ac/institutes/grid.413584.f", 
              "name": [
                "Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kukolich", 
            "givenName": "Mary K", 
            "id": "sg:person.01332273700.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332273700.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia", 
              "id": "http://www.grid.ac/institutes/grid.1003.2", 
              "name": [
                "Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McGaughran", 
            "givenName": "Julie", 
            "id": "sg:person.0705517122.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705517122.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Coe", 
            "givenName": "Bradley P", 
            "id": "sg:person.01354620530.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain", 
              "id": "http://www.grid.ac/institutes/grid.7821.c", 
              "name": [
                "Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fl\u00f3rez", 
            "givenName": "Jes\u00fas", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nadif Kasri", 
            "givenName": "Nael", 
            "id": "sg:person.01042137416.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042137416.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.412966.e", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
                "Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brunner", 
            "givenName": "Han G", 
            "id": "sg:person.013111306272.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013111306272.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia", 
              "id": "http://www.grid.ac/institutes/grid.1010.0", 
              "name": [
                "Women's and Children's Hospital; and Department of Paediatrics, South Australian Clinical Genetics Service, University of Adelaide", 
                "Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Thompson", 
            "givenName": "Elizabeth M", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia", 
              "id": "http://www.grid.ac/institutes/grid.1694.a", 
              "name": [
                "School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gecz", 
            "givenName": "Jozef", 
            "id": "sg:person.012335367217.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, 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": {
              "alternateName": "Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA", 
              "id": "http://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA", 
                "Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eichler", 
            "givenName": "Evan E", 
            "id": "sg:person.0705101106.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands", 
              "id": "http://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Vries", 
            "givenName": "Bert BA", 
            "id": "sg:person.01243511530.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng1858", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041756292", 
              "https://doi.org/10.1038/ng1858"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3092", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003197881", 
              "https://doi.org/10.1038/ng.3092"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature11632", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000661742", 
              "https://doi.org/10.1038/nature11632"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2012.1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033911317", 
              "https://doi.org/10.1038/ejhg.2012.1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2257", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027380860", 
              "https://doi.org/10.1038/ng.2257"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2335", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028340166", 
              "https://doi.org/10.1038/ng.2335"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2262", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039690822", 
              "https://doi.org/10.1038/ng.2262"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.909", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020398051", 
              "https://doi.org/10.1038/ng.909"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.193", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040817229", 
              "https://doi.org/10.1038/ng.193"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1862", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047487757", 
              "https://doi.org/10.1038/ng1862"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2334", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026171513", 
              "https://doi.org/10.1038/ng.2334"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1508", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014662746", 
              "https://doi.org/10.1038/ng1508"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1853", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020061077", 
              "https://doi.org/10.1038/ng1853"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2015-08-26", 
        "datePublishedReg": "2015-08-26", 
        "description": "The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ejhg.2015.178", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.7875388", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.6726644", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2705213", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103410", 
            "issn": [
              "1018-4813", 
              "1476-5438"
            ], 
            "name": "European Journal of Human Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "5", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "24"
          }
        ], 
        "keywords": [
          "Koolen-de Vries syndrome", 
          "characteristic facial dysmorphism", 
          "broad phenotypic spectrum", 
          "SNV patients", 
          "musculoskeletal anomalies", 
          "single nucleotide variants", 
          "urogenital malformations", 
          "moderate intellectual disability", 
          "neuropsychological features", 
          "clinical importance", 
          "syndrome", 
          "congenital heart", 
          "phenotypic spectrum", 
          "truncating variants", 
          "expressive language development", 
          "ectodermal anomalies", 
          "heterogeneous disorder", 
          "developmental delay", 
          "novel cohort", 
          "facial dysmorphism", 
          "microdeletion syndrome", 
          "intellectual disability", 
          "patients", 
          "copy number analysis", 
          "motor skills", 
          "DNA copy number analysis", 
          "microdeletion", 
          "detailed phenotypic information", 
          "receptive language", 
          "laboratory testing", 
          "KANSL1", 
          "potential pitfalls", 
          "phenotype", 
          "epilepsy", 
          "sequence variants", 
          "hypotonia", 
          "cohort", 
          "malformations", 
          "phenotypic comparison", 
          "number analysis", 
          "disorders", 
          "variants", 
          "dysmorphism", 
          "disability", 
          "language development", 
          "heart", 
          "haploinsufficiency", 
          "individuals", 
          "anomalies", 
          "differences", 
          "testing", 
          "genes", 
          "phenotypic information", 
          "pitfalls", 
          "comparison", 
          "features", 
          "guidance", 
          "variant calling", 
          "development", 
          "delay", 
          "Herein", 
          "importance", 
          "skills", 
          "analysis", 
          "challenges", 
          "information", 
          "region", 
          "behavior", 
          "calling", 
          "spectra", 
          "friendly behavior", 
          "language", 
          "KdV", 
          "Vries syndrome", 
          "KAT8 regulatory NSL complex unit 1 (KANSL1) gene", 
          "regulatory NSL complex unit 1 (KANSL1) gene", 
          "NSL complex unit 1 (KANSL1) gene", 
          "complex unit 1 (KANSL1) gene", 
          "unit 1 (KANSL1) gene", 
          "KANSL1 variant calling", 
          "haploinsufficiency of KANSL1", 
          "full KdVS phenotype", 
          "KdVS phenotype", 
          "KANSL1 sequence variant"
        ], 
        "name": "The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant", 
        "pagination": "652-659", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1002562136"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ejhg.2015.178"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "26306646"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ejhg.2015.178", 
          "https://app.dimensions.ai/details/publication/pub.1002562136"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:37", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_661.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ejhg.2015.178"
      }
    ]
     

    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/ejhg.2015.178'

    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/ejhg.2015.178'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2015.178'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2015.178'


     

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

    686 TRIPLES      22 PREDICATES      137 URIs      116 LITERALS      21 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ejhg.2015.178 schema:about N07f53f2f102b4feba2749182c6e42d22
    2 N12c844fe2335495cb78e46216734875b
    3 N1a236e68010a4983ad954c24c686365c
    4 N29c0198b5a06403ea3d81ad296d1c308
    5 N4d3030e2729e4bc299306e162b06e91d
    6 N627acdba56824c498d681d20d62afd9c
    7 N66473b3f84ff4cd4965471e6e53e2210
    8 N72e08d6dc8404441b670a2a845f41c86
    9 N7778951027a04430b5966d0e58ba64e5
    10 N98b2b6ff0b50458d85dfc597d70538ce
    11 Nb5f3d77b540d4e30a83beeeca72ce492
    12 Nbc63f760122c4e1d82ee02d855b0e3d8
    13 Nd748e3df43fd4dbfa8421ea983bfe9a5
    14 Ne80af9ddfee84da7a805133352dfce91
    15 anzsrc-for:06
    16 anzsrc-for:0604
    17 schema:author Ne5fb8523232549d8b5511c1e0a449327
    18 schema:citation sg:pub.10.1038/ejhg.2012.1
    19 sg:pub.10.1038/nature11632
    20 sg:pub.10.1038/ng.193
    21 sg:pub.10.1038/ng.2257
    22 sg:pub.10.1038/ng.2262
    23 sg:pub.10.1038/ng.2334
    24 sg:pub.10.1038/ng.2335
    25 sg:pub.10.1038/ng.3092
    26 sg:pub.10.1038/ng.909
    27 sg:pub.10.1038/ng1508
    28 sg:pub.10.1038/ng1853
    29 sg:pub.10.1038/ng1858
    30 sg:pub.10.1038/ng1862
    31 schema:datePublished 2015-08-26
    32 schema:datePublishedReg 2015-08-26
    33 schema:description The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.
    34 schema:genre article
    35 schema:inLanguage en
    36 schema:isAccessibleForFree true
    37 schema:isPartOf N45fc21958e45440d845b506bbbdf7e03
    38 Nbe7c7aabd6c74454b3d6b71c6f01ab6e
    39 sg:journal.1103410
    40 schema:keywords DNA copy number analysis
    41 Herein
    42 KANSL1
    43 KANSL1 sequence variant
    44 KANSL1 variant calling
    45 KAT8 regulatory NSL complex unit 1 (KANSL1) gene
    46 KdV
    47 KdVS phenotype
    48 Koolen-de Vries syndrome
    49 NSL complex unit 1 (KANSL1) gene
    50 SNV patients
    51 Vries syndrome
    52 analysis
    53 anomalies
    54 behavior
    55 broad phenotypic spectrum
    56 calling
    57 challenges
    58 characteristic facial dysmorphism
    59 clinical importance
    60 cohort
    61 comparison
    62 complex unit 1 (KANSL1) gene
    63 congenital heart
    64 copy number analysis
    65 delay
    66 detailed phenotypic information
    67 development
    68 developmental delay
    69 differences
    70 disability
    71 disorders
    72 dysmorphism
    73 ectodermal anomalies
    74 epilepsy
    75 expressive language development
    76 facial dysmorphism
    77 features
    78 friendly behavior
    79 full KdVS phenotype
    80 genes
    81 guidance
    82 haploinsufficiency
    83 haploinsufficiency of KANSL1
    84 heart
    85 heterogeneous disorder
    86 hypotonia
    87 importance
    88 individuals
    89 information
    90 intellectual disability
    91 laboratory testing
    92 language
    93 language development
    94 malformations
    95 microdeletion
    96 microdeletion syndrome
    97 moderate intellectual disability
    98 motor skills
    99 musculoskeletal anomalies
    100 neuropsychological features
    101 novel cohort
    102 number analysis
    103 patients
    104 phenotype
    105 phenotypic comparison
    106 phenotypic information
    107 phenotypic spectrum
    108 pitfalls
    109 potential pitfalls
    110 receptive language
    111 region
    112 regulatory NSL complex unit 1 (KANSL1) gene
    113 sequence variants
    114 single nucleotide variants
    115 skills
    116 spectra
    117 syndrome
    118 testing
    119 truncating variants
    120 unit 1 (KANSL1) gene
    121 urogenital malformations
    122 variant calling
    123 variants
    124 schema:name The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
    125 schema:pagination 652-659
    126 schema:productId N158d70e1169f4dddbc68541fb5ca1284
    127 N592f47aec24a492fae718cfca7f5cf72
    128 N856c9615eb1d4e04a89d27e87ab9604f
    129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002562136
    130 https://doi.org/10.1038/ejhg.2015.178
    131 schema:sdDatePublished 2022-01-01T18:37
    132 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    133 schema:sdPublisher N7a5ec9051c2e4ef4ac5e906e9824bd8b
    134 schema:url https://doi.org/10.1038/ejhg.2015.178
    135 sgo:license sg:explorer/license/
    136 sgo:sdDataset articles
    137 rdf:type schema:ScholarlyArticle
    138 N07f53f2f102b4feba2749182c6e42d22 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    139 schema:name Child
    140 rdf:type schema:DefinedTerm
    141 N0a28fd63cf6b442da17afec67ac3bc18 rdf:first sg:person.0705101106.89
    142 rdf:rest Ndf0914154aa049349f19fb6186235f2e
    143 N0e9a5691cffc4b168488ff9f81f6d143 rdf:first Nf8dc9b534dd64339bc7100869aeced74
    144 rdf:rest N93f7ec0e35294ccca56f08aac561b0a3
    145 N12c844fe2335495cb78e46216734875b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    146 schema:name Adult
    147 rdf:type schema:DefinedTerm
    148 N13687e8373894d74b09c6f04b80d412f rdf:first sg:person.0624302643.74
    149 rdf:rest N1fe50f74d35d432bac5ae2716b4afbb7
    150 N158d70e1169f4dddbc68541fb5ca1284 schema:name doi
    151 schema:value 10.1038/ejhg.2015.178
    152 rdf:type schema:PropertyValue
    153 N17f0c36e1c634a5d93bbff383d19f13a schema:affiliation grid-institutes:grid.47100.32
    154 schema:familyName Zhang
    155 schema:givenName Hui Z
    156 rdf:type schema:Person
    157 N1a236e68010a4983ad954c24c686365c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    158 schema:name Female
    159 rdf:type schema:DefinedTerm
    160 N1cab17eb42ee49539c9466231250f821 rdf:first sg:person.0613617450.34
    161 rdf:rest Ne1a03686fe1847b7aed6664f780fdd0f
    162 N1f4128700238443cbe26cf10c82dad5f rdf:first sg:person.01332273700.89
    163 rdf:rest N38484a02c7b54765b4820c06c2ffbcbf
    164 N1fe50f74d35d432bac5ae2716b4afbb7 rdf:first sg:person.01106475777.82
    165 rdf:rest N5b1af04719194e85ac319f3b0e05c5c4
    166 N20964d2facc94075af258b6e28c78424 rdf:first sg:person.01001201267.46
    167 rdf:rest Nf72ce25484814b98bad3fc7c92de6e64
    168 N225e07be62a440c686b59b70630b5ec3 rdf:first sg:person.01354620530.45
    169 rdf:rest N7b978790168a4180af1306189ee978fb
    170 N26ae3b81463b450cb22045fa78b48a2e schema:affiliation grid-institutes:grid.413188.7
    171 schema:familyName Dalton
    172 schema:givenName Marguerite
    173 rdf:type schema:Person
    174 N29c0198b5a06403ea3d81ad296d1c308 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    175 schema:name Middle Aged
    176 rdf:type schema:DefinedTerm
    177 N2ac83c61e53a4fbf810ab67eeebe2359 rdf:first sg:person.0723520054.39
    178 rdf:rest N69586aa212834eeb84d70264b4721ed6
    179 N31e2349febaa494a8a1d3af6ea8f514d schema:affiliation grid-institutes:grid.170205.1
    180 schema:familyName Halbach
    181 schema:givenName Sara
    182 rdf:type schema:Person
    183 N38484a02c7b54765b4820c06c2ffbcbf rdf:first sg:person.0705517122.44
    184 rdf:rest N225e07be62a440c686b59b70630b5ec3
    185 N3a5f898605244726828f4b26ed1ea6be rdf:first N31e2349febaa494a8a1d3af6ea8f514d
    186 rdf:rest N621e14b0abf74af9910f9c1de594f649
    187 N3c744d34590f462f8356a451e2f15f41 rdf:first sg:person.01165726761.66
    188 rdf:rest N5363c0fd46324617b594b2aaacef08bc
    189 N3d880340398941e6827b32fe977dffce rdf:first N48db3544968e42c592d0b91f4c6c1619
    190 rdf:rest Na5dc5c7ff73b4ef9b3130bc9c252ed1d
    191 N3fd4d3c3c5fa4532886605dba3871b73 rdf:first sg:person.07573632574.87
    192 rdf:rest Nd62948daa3984ec699d4ff239236f12b
    193 N4052478edfd44fc3a5930ab3b64bb240 rdf:first sg:person.01207540231.69
    194 rdf:rest Nb48ac54dcf124bff9dc91d2d701e7665
    195 N45fc21958e45440d845b506bbbdf7e03 schema:volumeNumber 24
    196 rdf:type schema:PublicationVolume
    197 N48db3544968e42c592d0b91f4c6c1619 schema:affiliation grid-institutes:None
    198 schema:familyName Winesett
    199 schema:givenName Heather M
    200 rdf:type schema:Person
    201 N4c85cf7915b449bdab585dc48cb9af16 rdf:first sg:person.0764710730.00
    202 rdf:rest Nb55556b7741949c794ac2acbe3786f04
    203 N4d3030e2729e4bc299306e162b06e91d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    204 schema:name Polymorphism, Single Nucleotide
    205 rdf:type schema:DefinedTerm
    206 N5363c0fd46324617b594b2aaacef08bc rdf:first sg:person.013042557313.34
    207 rdf:rest N4c85cf7915b449bdab585dc48cb9af16
    208 N592f47aec24a492fae718cfca7f5cf72 schema:name dimensions_id
    209 schema:value pub.1002562136
    210 rdf:type schema:PropertyValue
    211 N5b1af04719194e85ac319f3b0e05c5c4 rdf:first sg:person.011512310764.46
    212 rdf:rest Nf0d0e0b815b6482f847aa6496eb5c648
    213 N5ba03d88f4004c8c87c4d6ab2b76c939 rdf:first sg:person.013111306272.18
    214 rdf:rest Nbe124bdfd38e4c7bb100f39cd56bfad4
    215 N621e14b0abf74af9910f9c1de594f649 rdf:first sg:person.01074752006.25
    216 rdf:rest N3d880340398941e6827b32fe977dffce
    217 N627acdba56824c498d681d20d62afd9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    218 schema:name Adolescent
    219 rdf:type schema:DefinedTerm
    220 N6477c7a2a1244782bcccb32052674a66 rdf:first N17f0c36e1c634a5d93bbff383d19f13a
    221 rdf:rest N13687e8373894d74b09c6f04b80d412f
    222 N66473b3f84ff4cd4965471e6e53e2210 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    223 schema:name Phenotype
    224 rdf:type schema:DefinedTerm
    225 N69586aa212834eeb84d70264b4721ed6 rdf:first sg:person.01250373210.25
    226 rdf:rest N6477c7a2a1244782bcccb32052674a66
    227 N6e78d9f7fd61463c82b2f40a18020f44 rdf:first sg:person.012335367217.22
    228 rdf:rest Nf66cb6bacb9d40dc9aca643067743041
    229 N72e08d6dc8404441b670a2a845f41c86 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    230 schema:name Humans
    231 rdf:type schema:DefinedTerm
    232 N7778951027a04430b5966d0e58ba64e5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    233 schema:name Chromosome Deletion
    234 rdf:type schema:DefinedTerm
    235 N7a5ec9051c2e4ef4ac5e906e9824bd8b schema:name Springer Nature - SN SciGraph project
    236 rdf:type schema:Organization
    237 N7b978790168a4180af1306189ee978fb rdf:first Nbe4455f0bffe41a79508eec87c1019c8
    238 rdf:rest Nc46c80a3571846e58f44c2c0acea0b59
    239 N856c9615eb1d4e04a89d27e87ab9604f schema:name pubmed_id
    240 schema:value 26306646
    241 rdf:type schema:PropertyValue
    242 N93f7ec0e35294ccca56f08aac561b0a3 rdf:first sg:person.016343656563.48
    243 rdf:rest Na91f715faf6a48d0b409cf0b591502c9
    244 N98b2b6ff0b50458d85dfc597d70538ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    245 schema:name Nuclear Proteins
    246 rdf:type schema:DefinedTerm
    247 N992e4ec409094249b589ad47a9f82e01 schema:affiliation grid-institutes:None
    248 schema:familyName Splitt
    249 schema:givenName Miranda
    250 rdf:type schema:Person
    251 Na4230ec9d05d4880b1a38ef375415d1e rdf:first Ncf3694304aa94e9aa00085126175be42
    252 rdf:rest N0e9a5691cffc4b168488ff9f81f6d143
    253 Na5dc5c7ff73b4ef9b3130bc9c252ed1d rdf:first Ndaca444e5eab4ef79c80ebc374682c71
    254 rdf:rest Ne25c156c7fcc4bc0aeaa0ec522f1aec7
    255 Na91f715faf6a48d0b409cf0b591502c9 rdf:first N992e4ec409094249b589ad47a9f82e01
    256 rdf:rest Nf2e8ae2f57d9454bb596c28a2e4a1932
    257 Nae6fda23d9b341549e6fa87521c33ccc rdf:first sg:person.01170651455.88
    258 rdf:rest N3a5f898605244726828f4b26ed1ea6be
    259 Nb48ac54dcf124bff9dc91d2d701e7665 rdf:first sg:person.0631154620.97
    260 rdf:rest Nae6fda23d9b341549e6fa87521c33ccc
    261 Nb55556b7741949c794ac2acbe3786f04 rdf:first sg:person.01116326257.95
    262 rdf:rest Nddb0b76bdee5487091669600b3b59a83
    263 Nb5f3d77b540d4e30a83beeeca72ce492 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    264 schema:name Abnormalities, Multiple
    265 rdf:type schema:DefinedTerm
    266 Nb64070f176d24ef9be468589974a4914 rdf:first sg:person.01315013031.54
    267 rdf:rest Nd0f11554b9e24161a812b4dfa1f330c9
    268 Nbc63f760122c4e1d82ee02d855b0e3d8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    269 schema:name Chromosomes, Human, Pair 17
    270 rdf:type schema:DefinedTerm
    271 Nbe124bdfd38e4c7bb100f39cd56bfad4 rdf:first Ne0f05b903b3a4101b65b622ae9729a1e
    272 rdf:rest N6e78d9f7fd61463c82b2f40a18020f44
    273 Nbe4455f0bffe41a79508eec87c1019c8 schema:affiliation grid-institutes:grid.7821.c
    274 schema:familyName Flórez
    275 schema:givenName Jesús
    276 rdf:type schema:Person
    277 Nbe7c7aabd6c74454b3d6b71c6f01ab6e schema:issueNumber 5
    278 rdf:type schema:PublicationIssue
    279 Nbf42509b3f36408b958e0a2eda0d3280 rdf:first sg:person.01217721267.30
    280 rdf:rest Na4230ec9d05d4880b1a38ef375415d1e
    281 Nc46c80a3571846e58f44c2c0acea0b59 rdf:first sg:person.01042137416.69
    282 rdf:rest N5ba03d88f4004c8c87c4d6ab2b76c939
    283 Nc4828c0db831442b87ebd111c1391848 rdf:first sg:person.01126520321.93
    284 rdf:rest N2ac83c61e53a4fbf810ab67eeebe2359
    285 Ncf3694304aa94e9aa00085126175be42 schema:affiliation grid-institutes:grid.286440.c
    286 schema:familyName Friedman
    287 schema:givenName Jennifer R
    288 rdf:type schema:Person
    289 Nd0f11554b9e24161a812b4dfa1f330c9 rdf:first sg:person.0663101125.16
    290 rdf:rest Nbf42509b3f36408b958e0a2eda0d3280
    291 Nd62948daa3984ec699d4ff239236f12b rdf:first sg:person.0702117137.21
    292 rdf:rest N20964d2facc94075af258b6e28c78424
    293 Nd6b9e8cee9714e2cbe500ff7201e2563 rdf:first sg:person.0701712537.00
    294 rdf:rest Nfe6ea6ff801d4d3f825038f92f751f12
    295 Nd748e3df43fd4dbfa8421ea983bfe9a5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    296 schema:name Intellectual Disability
    297 rdf:type schema:DefinedTerm
    298 Ndaca444e5eab4ef79c80ebc374682c71 schema:affiliation grid-institutes:grid.21729.3f
    299 schema:familyName Chung
    300 schema:givenName Wendy K
    301 rdf:type schema:Person
    302 Nddb0b76bdee5487091669600b3b59a83 rdf:first sg:person.0610672766.46
    303 rdf:rest N4052478edfd44fc3a5930ab3b64bb240
    304 Ndf0914154aa049349f19fb6186235f2e rdf:first sg:person.01243511530.45
    305 rdf:rest rdf:nil
    306 Ne0f05b903b3a4101b65b622ae9729a1e schema:affiliation grid-institutes:grid.1010.0
    307 schema:familyName Thompson
    308 schema:givenName Elizabeth M
    309 rdf:type schema:Person
    310 Ne1a03686fe1847b7aed6664f780fdd0f rdf:first sg:person.011240117052.11
    311 rdf:rest Nd6b9e8cee9714e2cbe500ff7201e2563
    312 Ne25c156c7fcc4bc0aeaa0ec522f1aec7 rdf:first N26ae3b81463b450cb22045fa78b48a2e
    313 rdf:rest Nc4828c0db831442b87ebd111c1391848
    314 Ne5fb8523232549d8b5511c1e0a449327 rdf:first sg:person.01244562251.42
    315 rdf:rest N3c744d34590f462f8356a451e2f15f41
    316 Ne80af9ddfee84da7a805133352dfce91 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    317 schema:name Male
    318 rdf:type schema:DefinedTerm
    319 Nf0992c981c3d4840b2a241965e313b5d rdf:first sg:person.0673751210.83
    320 rdf:rest Nb64070f176d24ef9be468589974a4914
    321 Nf0d0e0b815b6482f847aa6496eb5c648 rdf:first sg:person.0715220567.52
    322 rdf:rest N3fd4d3c3c5fa4532886605dba3871b73
    323 Nf2e8ae2f57d9454bb596c28a2e4a1932 rdf:first N29a437d7c06c4393a3025b1d3fef98e3
    324 rdf:rest N1f4128700238443cbe26cf10c82dad5f
    325 Nf66cb6bacb9d40dc9aca643067743041 rdf:first sg:person.014011776500.13
    326 rdf:rest N0a28fd63cf6b442da17afec67ac3bc18
    327 Nf72ce25484814b98bad3fc7c92de6e64 rdf:first sg:person.01325600663.42
    328 rdf:rest N1cab17eb42ee49539c9466231250f821
    329 Nf8dc9b534dd64339bc7100869aeced74 schema:affiliation grid-institutes:None
    330 schema:familyName Sokunbi
    331 schema:givenName Modupe A
    332 rdf:type schema:Person
    333 Nfe6ea6ff801d4d3f825038f92f751f12 rdf:first sg:person.01300670057.34
    334 rdf:rest Nf0992c981c3d4840b2a241965e313b5d
    335 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    336 schema:name Biological Sciences
    337 rdf:type schema:DefinedTerm
    338 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    339 schema:name Genetics
    340 rdf:type schema:DefinedTerm
    341 sg:grant.2705213 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2015.178
    342 rdf:type schema:MonetaryGrant
    343 sg:grant.6726644 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2015.178
    344 rdf:type schema:MonetaryGrant
    345 sg:grant.7875388 http://pending.schema.org/fundedItem sg:pub.10.1038/ejhg.2015.178
    346 rdf:type schema:MonetaryGrant
    347 sg:journal.1103410 schema:issn 1018-4813
    348 1476-5438
    349 schema:name European Journal of Human Genetics
    350 schema:publisher Springer Nature
    351 rdf:type schema:Periodical
    352 sg:person.01001201267.46 schema:affiliation grid-institutes:None
    353 schema:familyName Failla
    354 schema:givenName Pinella
    355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001201267.46
    356 rdf:type schema:Person
    357 sg:person.01042137416.69 schema:affiliation grid-institutes:grid.10417.33
    358 schema:familyName Nadif Kasri
    359 schema:givenName Nael
    360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042137416.69
    361 rdf:type schema:Person
    362 sg:person.01074752006.25 schema:affiliation grid-institutes:grid.410721.1
    363 schema:familyName Abdul-Rahman
    364 schema:givenName Omar A
    365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074752006.25
    366 rdf:type schema:Person
    367 sg:person.01106475777.82 schema:affiliation grid-institutes:grid.10417.33
    368 schema:familyName Hehir-Kwa
    369 schema:givenName Jayne Y
    370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106475777.82
    371 rdf:type schema:Person
    372 sg:person.01116326257.95 schema:affiliation grid-institutes:grid.4494.d
    373 schema:familyName Veenstra-Knol
    374 schema:givenName Hermine E
    375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116326257.95
    376 rdf:type schema:Person
    377 sg:person.011240117052.11 schema:affiliation grid-institutes:grid.416135.4
    378 schema:familyName Brooks
    379 schema:givenName Alice S
    380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011240117052.11
    381 rdf:type schema:Person
    382 sg:person.01126520321.93 schema:affiliation grid-institutes:None
    383 schema:familyName Dimova
    384 schema:givenName Petia S
    385 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126520321.93
    386 rdf:type schema:Person
    387 sg:person.011512310764.46 schema:affiliation grid-institutes:grid.10417.33
    388 schema:familyName Willemsen
    389 schema:givenName Marjolein H
    390 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011512310764.46
    391 rdf:type schema:Person
    392 sg:person.01165726761.66 schema:affiliation grid-institutes:grid.10417.33
    393 schema:familyName Pfundt
    394 schema:givenName Rolph
    395 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165726761.66
    396 rdf:type schema:Person
    397 sg:person.01170651455.88 schema:affiliation grid-institutes:grid.418506.e
    398 schema:familyName Dugan
    399 schema:givenName Sarah
    400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170651455.88
    401 rdf:type schema:Person
    402 sg:person.01207540231.69 schema:affiliation grid-institutes:grid.418340.a
    403 schema:familyName Fortuna
    404 schema:givenName Ana Maria
    405 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207540231.69
    406 rdf:type schema:Person
    407 sg:person.01217721267.30 schema:affiliation grid-institutes:grid.286440.c
    408 schema:familyName Masser-Frye
    409 schema:givenName Diane
    410 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217721267.30
    411 rdf:type schema:Person
    412 sg:person.012335367217.22 schema:affiliation grid-institutes:grid.1694.a
    413 schema:familyName Gecz
    414 schema:givenName Jozef
    415 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012335367217.22
    416 rdf:type schema:Person
    417 sg:person.01243511530.45 schema:affiliation grid-institutes:grid.10417.33
    418 schema:familyName de Vries
    419 schema:givenName Bert BA
    420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45
    421 rdf:type schema:Person
    422 sg:person.01244562251.42 schema:affiliation grid-institutes:grid.10417.33
    423 schema:familyName Koolen
    424 schema:givenName David A
    425 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244562251.42
    426 rdf:type schema:Person
    427 sg:person.01250373210.25 schema:affiliation grid-institutes:None
    428 schema:familyName Prescott
    429 schema:givenName Katrina
    430 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250373210.25
    431 rdf:type schema:Person
    432 sg:person.01300670057.34 schema:affiliation grid-institutes:grid.4494.d
    433 schema:familyName Gerkes
    434 schema:givenName Erica H
    435 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300670057.34
    436 rdf:type schema:Person
    437 sg:person.013042557313.34 schema:affiliation grid-institutes:grid.10417.33
    438 schema:familyName Linda
    439 schema:givenName Katrin
    440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013042557313.34
    441 rdf:type schema:Person
    442 sg:person.013111306272.18 schema:affiliation grid-institutes:grid.412966.e
    443 schema:familyName Brunner
    444 schema:givenName Han G
    445 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013111306272.18
    446 rdf:type schema:Person
    447 sg:person.01315013031.54 schema:affiliation grid-institutes:grid.412269.a
    448 schema:familyName Õunap
    449 schema:givenName Katrin
    450 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315013031.54
    451 rdf:type schema:Person
    452 sg:person.01325600663.42 schema:affiliation grid-institutes:None
    453 schema:familyName Barone
    454 schema:givenName Concetta
    455 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325600663.42
    456 rdf:type schema:Person
    457 sg:person.01332273700.89 schema:affiliation grid-institutes:grid.413584.f
    458 schema:familyName Kukolich
    459 schema:givenName Mary K
    460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01332273700.89
    461 rdf:type schema:Person
    462 sg:person.01354620530.45 schema:affiliation grid-institutes:grid.34477.33
    463 schema:familyName Coe
    464 schema:givenName Bradley P
    465 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354620530.45
    466 rdf:type schema:Person
    467 sg:person.014011776500.13 schema:affiliation grid-institutes:None
    468 schema:familyName Romano
    469 schema:givenName Corrado
    470 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014011776500.13
    471 rdf:type schema:Person
    472 sg:person.016343656563.48 schema:affiliation grid-institutes:grid.412920.c
    473 schema:familyName Dixit
    474 schema:givenName Abhijit
    475 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016343656563.48
    476 rdf:type schema:Person
    477 sg:person.0610672766.46 schema:affiliation grid-institutes:grid.240741.4
    478 schema:familyName Conta
    479 schema:givenName Jessie H
    480 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610672766.46
    481 rdf:type schema:Person
    482 sg:person.0613617450.34 schema:affiliation grid-institutes:None
    483 schema:familyName Avola
    484 schema:givenName Emanuela
    485 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0613617450.34
    486 rdf:type schema:Person
    487 sg:person.0624302643.74 schema:affiliation grid-institutes:grid.239573.9
    488 schema:familyName Saal
    489 schema:givenName Howard M
    490 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624302643.74
    491 rdf:type schema:Person
    492 sg:person.0631154620.97 schema:affiliation grid-institutes:grid.4562.5
    493 schema:familyName Gillessen-Kaesbach
    494 schema:givenName Gabriele
    495 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631154620.97
    496 rdf:type schema:Person
    497 sg:person.0663101125.16 schema:affiliation grid-institutes:grid.286440.c
    498 schema:familyName Bird
    499 schema:givenName Lynne M
    500 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663101125.16
    501 rdf:type schema:Person
    502 sg:person.0673751210.83 schema:affiliation grid-institutes:grid.120073.7
    503 schema:familyName Firth
    504 schema:givenName Helen V
    505 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673751210.83
    506 rdf:type schema:Person
    507 sg:person.0701712537.00 schema:affiliation grid-institutes:grid.10419.3d
    508 schema:familyName Kant
    509 schema:givenName Sarina G
    510 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701712537.00
    511 rdf:type schema:Person
    512 sg:person.0702117137.21 schema:affiliation grid-institutes:grid.5284.b
    513 schema:familyName Van der Aa
    514 schema:givenName Nathalie
    515 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0702117137.21
    516 rdf:type schema:Person
    517 sg:person.0705101106.89 schema:affiliation grid-institutes:grid.34477.33
    518 schema:familyName Eichler
    519 schema:givenName Evan E
    520 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
    521 rdf:type schema:Person
    522 sg:person.0705517122.44 schema:affiliation grid-institutes:grid.1003.2
    523 schema:familyName McGaughran
    524 schema:givenName Julie
    525 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705517122.44
    526 rdf:type schema:Person
    527 sg:person.0715220567.52 schema:affiliation grid-institutes:grid.10417.33
    528 schema:familyName Ockeloen
    529 schema:givenName Charlotte W
    530 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715220567.52
    531 rdf:type schema:Person
    532 sg:person.0723520054.39 schema:affiliation grid-institutes:grid.8158.4
    533 schema:familyName Mattina
    534 schema:givenName Teresa
    535 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723520054.39
    536 rdf:type schema:Person
    537 sg:person.07573632574.87 schema:affiliation grid-institutes:grid.10417.33
    538 schema:familyName Jongmans
    539 schema:givenName Marjolijn C
    540 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07573632574.87
    541 rdf:type schema:Person
    542 sg:person.0764710730.00 schema:affiliation grid-institutes:grid.16872.3a
    543 schema:familyName Beunders
    544 schema:givenName Gea
    545 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764710730.00
    546 rdf:type schema:Person
    547 sg:pub.10.1038/ejhg.2012.1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033911317
    548 https://doi.org/10.1038/ejhg.2012.1
    549 rdf:type schema:CreativeWork
    550 sg:pub.10.1038/nature11632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000661742
    551 https://doi.org/10.1038/nature11632
    552 rdf:type schema:CreativeWork
    553 sg:pub.10.1038/ng.193 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040817229
    554 https://doi.org/10.1038/ng.193
    555 rdf:type schema:CreativeWork
    556 sg:pub.10.1038/ng.2257 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027380860
    557 https://doi.org/10.1038/ng.2257
    558 rdf:type schema:CreativeWork
    559 sg:pub.10.1038/ng.2262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039690822
    560 https://doi.org/10.1038/ng.2262
    561 rdf:type schema:CreativeWork
    562 sg:pub.10.1038/ng.2334 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026171513
    563 https://doi.org/10.1038/ng.2334
    564 rdf:type schema:CreativeWork
    565 sg:pub.10.1038/ng.2335 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028340166
    566 https://doi.org/10.1038/ng.2335
    567 rdf:type schema:CreativeWork
    568 sg:pub.10.1038/ng.3092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003197881
    569 https://doi.org/10.1038/ng.3092
    570 rdf:type schema:CreativeWork
    571 sg:pub.10.1038/ng.909 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020398051
    572 https://doi.org/10.1038/ng.909
    573 rdf:type schema:CreativeWork
    574 sg:pub.10.1038/ng1508 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014662746
    575 https://doi.org/10.1038/ng1508
    576 rdf:type schema:CreativeWork
    577 sg:pub.10.1038/ng1853 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020061077
    578 https://doi.org/10.1038/ng1853
    579 rdf:type schema:CreativeWork
    580 sg:pub.10.1038/ng1858 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041756292
    581 https://doi.org/10.1038/ng1858
    582 rdf:type schema:CreativeWork
    583 sg:pub.10.1038/ng1862 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047487757
    584 https://doi.org/10.1038/ng1862
    585 rdf:type schema:CreativeWork
    586 grid-institutes:None schema:alternateName Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK
    587 Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria
    588 Nacogdoches Pediatrics, Nacogdoches, TX, USA
    589 Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK
    590 Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
    591 St Luke's Pediatric Associates, Duluth, MN, USA
    592 schema:name Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK
    593 Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria
    594 Nacogdoches Pediatrics, Nacogdoches, TX, USA
    595 Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK
    596 Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
    597 St Luke's Pediatric Associates, Duluth, MN, USA
    598 rdf:type schema:Organization
    599 grid-institutes:grid.1003.2 schema:alternateName Genetic Health Queensland, Royal Brisbane and Women’s Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia
    600 schema:name Genetic Health Queensland, Royal Brisbane and Women’s Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia
    601 rdf:type schema:Organization
    602 grid-institutes:grid.1010.0 schema:alternateName Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia
    603 schema:name Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia
    604 Women's and Children's Hospital; and Department of Paediatrics, South Australian Clinical Genetics Service, University of Adelaide
    605 rdf:type schema:Organization
    606 grid-institutes:grid.10417.33 schema:alternateName Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    607 schema:name Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    608 rdf:type schema:Organization
    609 grid-institutes:grid.10419.3d schema:alternateName Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    610 schema:name Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    611 rdf:type schema:Organization
    612 grid-institutes:grid.120073.7 schema:alternateName Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK
    613 schema:name Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK
    614 rdf:type schema:Organization
    615 grid-institutes:grid.16872.3a schema:alternateName Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    616 schema:name Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    617 rdf:type schema:Organization
    618 grid-institutes:grid.1694.a schema:alternateName School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia
    619 schema:name School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia
    620 rdf:type schema:Organization
    621 grid-institutes:grid.170205.1 schema:alternateName Department of Human Genetics, University of Chicago, Chicago, IL, USA
    622 schema:name Department of Human Genetics, University of Chicago, Chicago, IL, USA
    623 rdf:type schema:Organization
    624 grid-institutes:grid.21729.3f schema:alternateName Department of Pediatrics and Medicine, Columbia University, New York, NY, USA
    625 schema:name Department of Pediatrics and Medicine, Columbia University, New York, NY, USA
    626 rdf:type schema:Organization
    627 grid-institutes:grid.239573.9 schema:alternateName Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
    628 schema:name Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
    629 rdf:type schema:Organization
    630 grid-institutes:grid.240741.4 schema:alternateName Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA
    631 schema:name Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA
    632 rdf:type schema:Organization
    633 grid-institutes:grid.286440.c schema:alternateName Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA
    634 schema:name Departments of Neurosciences and Pediatrics, and Divisions of Neurology and Genetics, University of California San Diego, Rady Children's Hospital San Diego, San Diego, CA, USA
    635 rdf:type schema:Organization
    636 grid-institutes:grid.34477.33 schema:alternateName Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
    637 Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
    638 schema:name Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
    639 Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
    640 rdf:type schema:Organization
    641 grid-institutes:grid.410721.1 schema:alternateName Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
    642 schema:name Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
    643 rdf:type schema:Organization
    644 grid-institutes:grid.412269.a schema:alternateName Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
    645 schema:name Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
    646 rdf:type schema:Organization
    647 grid-institutes:grid.412920.c schema:alternateName Clinical Genetics, Nottingham City Hospital, Nottingham, UK
    648 schema:name Clinical Genetics, Nottingham City Hospital, Nottingham, UK
    649 rdf:type schema:Organization
    650 grid-institutes:grid.412966.e schema:alternateName Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    651 schema:name Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    652 Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    653 rdf:type schema:Organization
    654 grid-institutes:grid.413188.7 schema:alternateName Counties Manukau District Health Board, South Auckland, New Zealand
    655 schema:name Counties Manukau District Health Board, South Auckland, New Zealand
    656 rdf:type schema:Organization
    657 grid-institutes:grid.413584.f schema:alternateName Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA
    658 schema:name Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA
    659 rdf:type schema:Organization
    660 grid-institutes:grid.416135.4 schema:alternateName Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands
    661 schema:name Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands
    662 rdf:type schema:Organization
    663 grid-institutes:grid.418340.a schema:alternateName Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal
    664 schema:name Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal
    665 rdf:type schema:Organization
    666 grid-institutes:grid.418506.e schema:alternateName Genetics Department, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA
    667 schema:name Genetics Department, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA
    668 rdf:type schema:Organization
    669 grid-institutes:grid.4494.d schema:alternateName Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    670 schema:name Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    671 rdf:type schema:Organization
    672 grid-institutes:grid.4562.5 schema:alternateName Institut für Humangenetik, University of Luebeck, Luebeck, Germany
    673 schema:name Institut für Humangenetik, University of Luebeck, Luebeck, Germany
    674 rdf:type schema:Organization
    675 grid-institutes:grid.47100.32 schema:alternateName Department of genetics, Yale University School of Medicine, New Haven, CT, USA
    676 schema:name Department of genetics, Yale University School of Medicine, New Haven, CT, USA
    677 rdf:type schema:Organization
    678 grid-institutes:grid.5284.b schema:alternateName Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    679 schema:name Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    680 rdf:type schema:Organization
    681 grid-institutes:grid.7821.c schema:alternateName Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain
    682 schema:name Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain
    683 rdf:type schema:Organization
    684 grid-institutes:grid.8158.4 schema:alternateName Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy
    685 schema:name Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy
    686 rdf:type schema:Organization
     




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


    ...