The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-11-08

AUTHORS

Eline van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F. J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W. Y. Chu, Brain H. Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R. Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W. Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M. S. Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N. M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Monica Rosello, Claudia A. L. Ruivenkamp, Mahmut S. Sagiroglu, Suzanne C. E. H. Sallevelt, Amparo Sanchis Calvo, Pelin O. Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyup Uctepe, G. Eda Utine, Hermine E. Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T. Vulto-van Silfhout, Patricia Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B. A. de Vries, Jill Clayton-Smith, Gijs W. E. Santen

ABSTRACT

PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. METHODS: Clinicians entered clinical data in an extensive web-based survey. RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. More... »

PAGES

1-13

Journal

TITLE

Genetics in Medicine

ISSUE

N/A

VOLUME

N/A

Author Affiliations

  • Leiden University Medical Center
  • Children's Hospital of The King's Daughters
  • St. Marianna University School of Medicine
  • Acıbadem University
  • Sultan Qaboos University Hospital
  • Istituti di Ricovero e Cura a Carattere Scientifico
  • Hvidovre Hospital
  • Universitätsklinikum Tübingen
  • Máxima Medisch Centrum
  • Ziekenhuis Nij Smellinghe
  • Radboud University Nijmegen Medical Centre
  • University of Montreal
  • Liverpool Women's Hospital
  • Children's Memorial Health Institute
  • University of Hong Kong
  • KU Leuven
  • Vrije Universiteit Brussel
  • University of Washington
  • Marmara Üniversitesi Eğitim ve Araştırma Hastanesi
  • University of Colorado Anschutz Medical Campus
  • Odense University Hospital
  • Northwick Park Hospital
  • Hospital de Cruces
  • University Medical Center Groningen
  • Charité
  • Princess Anne Hospital
  • Showa University
  • Koç University
  • Sophia Children's Hospital
  • Dayton Children's Hospital
  • National Health Service
  • Hospital Universitario Virgen de la Arrixaca
  • Hospital Universitari i Politècnic La Fe
  • Baylor College of Medicine
  • Addenbrooke's Hospital
  • St Mary's Hospital
  • Aichi Human Service Center
  • Dartmouth College
  • University Hospital Cologne
  • Centre Hospitalier Universitaire de Rennes
  • Glan Clwyd Hospital
  • University of Otago
  • Mount Sinai Hospital
  • Centre Hospitalier Universitaire de Bordeaux
  • Maastricht University Medical Centre
  • Hospital Universitario Doctor Peset
  • Hacettepe University
  • Centro Hospitalar do Porto
  • Hospital Universitario Son Espases
  • Karadeniz Technical University
  • Université Libre de Bruxelles
  • Universitätsmedizin Göttingen
  • Shinshu University Hospital
  • Heinrich Heine University Düsseldorf
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41436-018-0330-z

    DOI

    http://dx.doi.org/10.1038/s41436-018-0330-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1107763597

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30349098


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "van der Sluijs", 
            "givenName": "Eline", 
            "id": "sg:person.013305075124.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013305075124.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jansen", 
            "givenName": "Sandra", 
            "id": "sg:person.0771377770.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771377770.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Hospital of The King's Daughters", 
              "id": "https://www.grid.ac/institutes/grid.414165.3", 
              "name": [
                "Division of Medical Genetics and Metabolism, Children\u2019s Hospital of the King\u2019s Daughters, Norfolk, VA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vergano", 
            "givenName": "Samantha A.", 
            "id": "sg:person.01255657033.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255657033.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St. Marianna University School of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.412764.2", 
              "name": [
                "Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Adachi-Fukuda", 
            "givenName": "Miho", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Ac\u0131badem University", 
              "id": "https://www.grid.ac/institutes/grid.411117.3", 
              "name": [
                "School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Alanay", 
            "givenName": "Yasemin", 
            "id": "sg:person.01157067411.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sultan Qaboos University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412855.f", 
              "name": [
                "Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman"
              ], 
              "type": "Organization"
            }, 
            "familyName": "AlKindy", 
            "givenName": "Adila", 
            "id": "sg:person.01200077154.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200077154.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Istituti di Ricovero e Cura a Carattere Scientifico", 
              "id": "https://www.grid.ac/institutes/grid.414603.4", 
              "name": [
                "Pediatric Cardiology and Cardiac Surgery Department, Bambino Ges\u00f9 Children Hospital and Research Institute, IRCCS, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baban", 
            "givenName": "Anwar", 
            "id": "sg:person.01034163176.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01034163176.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hvidovre Hospital", 
              "id": "https://www.grid.ac/institutes/grid.411905.8", 
              "name": [
                "Copenhagen University Hospital Hvidovre, Copenhagen, Denmark"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bayat", 
            "givenName": "Allan", 
            "id": "sg:person.07440063657.55", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07440063657.55"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e4tsklinikum T\u00fcbingen", 
              "id": "https://www.grid.ac/institutes/grid.411544.1", 
              "name": [
                "Department of Molecular Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Beck-W\u00f6dl", 
            "givenName": "Stefanie", 
            "id": "sg:person.0644306630.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644306630.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Medical Genetics, Shodair Hospital, Helena, MT, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Berry", 
            "givenName": "Katherine", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bijlsma", 
            "givenName": "Emilia K.", 
            "id": "sg:person.01310017365.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310017365.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "M\u00e1xima Medisch Centrum", 
              "id": "https://www.grid.ac/institutes/grid.414711.6", 
              "name": [
                "Department of Pediatrics, M\u00e0xima Medical Centre, Veldhoven, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bok", 
            "givenName": "Levinus A.", 
            "id": "sg:person.01204327114.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204327114.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Ziekenhuis Nij Smellinghe", 
              "id": "https://www.grid.ac/institutes/grid.477604.6", 
              "name": [
                "Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Brouwer", 
            "givenName": "Alwin F. J.", 
            "id": "sg:person.012411712222.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012411712222.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Radboud University Nijmegen Medical Centre", 
              "id": "https://www.grid.ac/institutes/grid.10417.33", 
              "name": [
                "Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "van der Burgt", 
            "givenName": "Ineke", 
            "id": "sg:person.01150412261.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150412261.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Montreal", 
              "id": "https://www.grid.ac/institutes/grid.14848.31", 
              "name": [
                "Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Campeau", 
            "givenName": "Philippe M.", 
            "id": "sg:person.01162000360.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162000360.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Liverpool Women's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.415996.6", 
              "name": [
                "North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom", 
                "Cheshire and Merseyside Regional Genetics Service, Liverpool Women\u2019s Hospital, Crown Street, Liverpool, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Canham", 
            "givenName": "Natalie", 
            "id": "sg:person.0711772123.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711772123.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Memorial Health Institute", 
              "id": "https://www.grid.ac/institutes/grid.413923.e", 
              "name": [
                "Department of Medical Genetics, The Children\u2019s Memorial Health Institute, Warsaw, Poland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chrzanowska", 
            "givenName": "Krystyna", 
            "id": "sg:person.01037035230.75", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037035230.75"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chu", 
            "givenName": "Yoyo W. Y.", 
            "id": "sg:person.0731074614.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731074614.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chung", 
            "givenName": "Brain H. Y.", 
            "id": "sg:person.01021436327.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021436327.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "KU Leuven", 
              "id": "https://www.grid.ac/institutes/grid.5596.f", 
              "name": [
                "Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dahan", 
            "givenName": "Karin", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Vrije Universiteit Brussel", 
              "id": "https://www.grid.ac/institutes/grid.8767.e", 
              "name": [
                "Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "De Rademaeker", 
            "givenName": "Marjan", 
            "id": "sg:person.01116155067.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116155067.36"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "KU Leuven", 
              "id": "https://www.grid.ac/institutes/grid.5596.f", 
              "name": [
                "Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Destree", 
            "givenName": "Anne", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dudding-Byth", 
            "givenName": "Tracy", 
            "id": "sg:person.0606024306.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606024306.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Washington", 
              "id": "https://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Earl", 
            "givenName": "Rachel", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Marmara \u00dcniversitesi E\u011fitim ve Ara\u015ft\u0131rma Hastanesi", 
              "id": "https://www.grid.ac/institutes/grid.479682.6", 
              "name": [
                "Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Elcioglu", 
            "givenName": "Nursel", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Colorado Anschutz Medical Campus", 
              "id": "https://www.grid.ac/institutes/grid.430503.1", 
              "name": [
                "Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Elias", 
            "givenName": "Ellen R.", 
            "id": "sg:person.01252207674.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252207674.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Odense University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.7143.1", 
              "name": [
                "Department of Clinical Genetics, Odense University Hospital, Odense, Denmark"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fagerberg", 
            "givenName": "Christina", 
            "id": "sg:person.01302357456.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302357456.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Northwick Park Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416568.8", 
              "name": [
                "North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gardham", 
            "givenName": "Alice", 
            "id": "sg:person.012154573025.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012154573025.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Cruces", 
              "id": "https://www.grid.ac/institutes/grid.411232.7", 
              "name": [
                "Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gener", 
            "givenName": "Blanca", 
            "id": "sg:person.01135743615.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135743615.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Medical Center Groningen", 
              "id": "https://www.grid.ac/institutes/grid.4494.d", 
              "name": [
                "University of Groningen, University Medical Center Groningen, Department of Genetics, 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": "Universit\u00e4tsklinikum T\u00fcbingen", 
              "id": "https://www.grid.ac/institutes/grid.411544.1", 
              "name": [
                "Department of Molecular Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Grasshoff", 
            "givenName": "Ute", 
            "id": "sg:person.01300736575.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300736575.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "van Haeringen", 
            "givenName": "Arie", 
            "id": "sg:person.01014634457.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014634457.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Heitink", 
            "givenName": "Karin R.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Medical Center Groningen", 
              "id": "https://www.grid.ac/institutes/grid.4494.d", 
              "name": [
                "University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Herkert", 
            "givenName": "Johanna C.", 
            "id": "sg:person.01065703565.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065703565.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hollander", 
            "givenName": "Nicolette S. den", 
            "id": "sg:person.014213230601.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014213230601.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Charit\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.6363.0", 
              "name": [
                "Institute for Medical Genetics and Human Genetics, Charit\u00e9 Universit\u00e4tsmedizin, Berlin, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Horn", 
            "givenName": "Denise", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Princess Anne Hospital", 
              "id": "https://www.grid.ac/institutes/grid.415216.5", 
              "name": [
                "Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hunt", 
            "givenName": "David", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://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": "Showa University", 
              "id": "https://www.grid.ac/institutes/grid.410714.7", 
              "name": [
                "Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kato", 
            "givenName": "Mitsuhiro", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Ko\u00e7 University", 
              "id": "https://www.grid.ac/institutes/grid.15876.3d", 
              "name": [
                "Medical Genetics Department, Ko\u00e7 University School of Medicine (KUSoM), \u0130stanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kayserili", 
            "givenName": "H\u00fclya", 
            "id": "sg:person.01026716422.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sophia Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416135.4", 
              "name": [
                "Department of Clinical Genetics, Sophia Children\u2019s Hospital, Erasmus MC, Rotterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kersseboom", 
            "givenName": "Rogier", 
            "id": "sg:person.0763434202.94", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763434202.94"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Pediatric Genetics, Hematology Oncology Research & Training Children\u2019s Hospital, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kilic", 
            "givenName": "Esra", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Children's Memorial Health Institute", 
              "id": "https://www.grid.ac/institutes/grid.413923.e", 
              "name": [
                "Department of Medical Genetics, The Children\u2019s Memorial Health Institute, Warsaw, Poland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Krajewska-Walasek", 
            "givenName": "Malgorzata", 
            "id": "sg:person.077025745.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.077025745.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Dayton Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414197.e", 
              "name": [
                "Department of Medical Genetics, Dayton Children\u2019s Hospital, Dayton, OH, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lammers", 
            "givenName": "Kylin", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Odense University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.7143.1", 
              "name": [
                "Department of Paediatrics, Odense University Hospital, Odense, Denmark"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Laulund", 
            "givenName": "Lone W.", 
            "id": "sg:person.01274666201.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274666201.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "KU Leuven", 
              "id": "https://www.grid.ac/institutes/grid.5596.f", 
              "name": [
                "Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lederer", 
            "givenName": "Damien", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Health Service", 
              "id": "https://www.grid.ac/institutes/grid.451052.7", 
              "name": [
                "Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lees", 
            "givenName": "Melissa", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Virgen de la Arrixaca", 
              "id": "https://www.grid.ac/institutes/grid.411372.2", 
              "name": [
                "Secci\u00f3n de Gen\u00e9tica M\u00e9dica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "L\u00f3pez-Gonz\u00e1lez", 
            "givenName": "Vanesa", 
            "id": "sg:person.01272603247.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272603247.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Maas", 
            "givenName": "Saskia", 
            "id": "sg:person.01324340574.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324340574.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sophia Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416135.4", 
              "name": [
                "Department of Clinical Genetics, Sophia Children\u2019s Hospital, Erasmus MC, Rotterdam, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mancini", 
            "givenName": "Grazia M. S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Marcelis", 
            "givenName": "Carlo", 
            "id": "sg:person.015406441444.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015406441444.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari i Polit\u00e8cnic La Fe", 
              "id": "https://www.grid.ac/institutes/grid.84393.35", 
              "name": [
                "Unidad de Gen\u00e9tica, Hospital Universitario y Polit\u00e9cnico La Fe, Valencia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Martinez", 
            "givenName": "Francisco", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "KU Leuven", 
              "id": "https://www.grid.ac/institutes/grid.5596.f", 
              "name": [
                "Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Maystadt", 
            "givenName": "Isabelle", 
            "id": "sg:person.01103656413.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103656413.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McGuire", 
            "givenName": "Marianne", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McKee", 
            "givenName": "Shane", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Addenbrooke's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.120073.7", 
              "name": [
                "East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke\u2019s Hospital, Cambridge, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mehta", 
            "givenName": "Sarju", 
            "id": "sg:person.01177442511.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177442511.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St Mary's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416523.7", 
              "name": [
                "Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary\u2019s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Metcalfe", 
            "givenName": "Kay", 
            "id": "sg:person.0641724363.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641724363.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Center for Human Genetics Inc, Cambridge, MA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Milunsky", 
            "givenName": "Jeff", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Aichi Human Service Center", 
              "id": "https://www.grid.ac/institutes/grid.410836.8", 
              "name": [
                "Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mizuno", 
            "givenName": "Seiji", 
            "id": "sg:person.0670142627.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670142627.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Dartmouth College", 
              "id": "https://www.grid.ac/institutes/grid.254880.3", 
              "name": [
                "Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moeschler", 
            "givenName": "John B.", 
            "id": "sg:person.0620272120.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620272120.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital Cologne", 
              "id": "https://www.grid.ac/institutes/grid.411097.a", 
              "name": [
                "Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Netzer", 
            "givenName": "Christian", 
            "id": "sg:person.01210254046.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210254046.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Human Genetics, 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": {
              "name": [
                "Gemeinschaftspraxis f\u00fcr Humangenetik Homburg/Saar, Homburg, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Oehl-Jaschkowitz", 
            "givenName": "Barbara", 
            "id": "sg:person.01210425021.96", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210425021.96"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Osaka, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Okamoto", 
            "givenName": "Nobuhiko", 
            "id": "sg:person.07560340507.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07560340507.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Willem Alexander Children\u2019s Hospital, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Olminkhof", 
            "givenName": "Sharon N. M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari i Polit\u00e8cnic La Fe", 
              "id": "https://www.grid.ac/institutes/grid.84393.35", 
              "name": [
                "Unidad de Gen\u00e9tica, Hospital Universitario y Polit\u00e9cnico La Fe, Valencia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Orellana", 
            "givenName": "Carmen", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Rennes", 
              "id": "https://www.grid.ac/institutes/grid.411154.4", 
              "name": [
                "CRMR D\u00e9ficiences intellectuelles, Service de G\u00e9n\u00e9tique M\u00e9dicale, CLAD Ouest CHU H\u00f4pital Sud, Rennes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pasquier", 
            "givenName": "Laurent", 
            "id": "sg:person.01226105057.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226105057.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Glan Clwyd Hospital", 
              "id": "https://www.grid.ac/institutes/grid.415564.7", 
              "name": [
                "All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pottinger", 
            "givenName": "Caroline", 
            "id": "sg:person.011432337602.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011432337602.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital Cologne", 
              "id": "https://www.grid.ac/institutes/grid.411097.a", 
              "name": [
                "Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Riehmer", 
            "givenName": "Vera", 
            "id": "sg:person.01144740436.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144740436.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Otago", 
              "id": "https://www.grid.ac/institutes/grid.29980.3a", 
              "name": [
                "Dunedin School of Medicine, University of Otago, Dunedin, New Zealand"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Robertson", 
            "givenName": "Stephen P.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Mount Sinai Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416166.2", 
              "name": [
                "Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada", 
                "The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roifman", 
            "givenName": "Maian", 
            "id": "sg:person.01207267334.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207267334.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
              "id": "https://www.grid.ac/institutes/grid.42399.35", 
              "name": [
                "Department of Medical Genetics, CHU Bordeaux, Bordeaux, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rooryck", 
            "givenName": "Caroline", 
            "id": "sg:person.01174302323.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174302323.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ropers", 
            "givenName": "Fabienne G.", 
            "id": "sg:person.013650715570.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013650715570.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitari i Polit\u00e8cnic La Fe", 
              "id": "https://www.grid.ac/institutes/grid.84393.35", 
              "name": [
                "Unidad de Gen\u00e9tica, Hospital Universitario y Polit\u00e9cnico La Fe, Valencia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rosello", 
            "givenName": "Monica", 
            "id": "sg:person.0735167013.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735167013.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ruivenkamp", 
            "givenName": "Claudia A. L.", 
            "id": "sg:person.01230712171.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230712171.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Genpute Computation Technologies Company, Istanbul, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sagiroglu", 
            "givenName": "Mahmut S.", 
            "id": "sg:person.0706337710.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706337710.19"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Maastricht University Medical Centre", 
              "id": "https://www.grid.ac/institutes/grid.412966.e", 
              "name": [
                "Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sallevelt", 
            "givenName": "Suzanne C. E. H.", 
            "id": "sg:person.01237765320.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237765320.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Doctor Peset", 
              "id": "https://www.grid.ac/institutes/grid.411289.7", 
              "name": [
                "Servicio de Pediatr\u00eda, Hospital Universitario Doctor Peset, Valencia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Calvo", 
            "givenName": "Amparo Sanchis", 
            "id": "sg:person.012320241437.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012320241437.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hacettepe University", 
              "id": "https://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Pediatric Genetics, Ihsan Dogramaci Children\u2019s Hospital, Hacettepe University School of Medicine, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Simsek-Kiper", 
            "givenName": "Pelin O.", 
            "id": "sg:person.01143574046.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143574046.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centro Hospitalar do Porto", 
              "id": "https://www.grid.ac/institutes/grid.418340.a", 
              "name": [
                "Jacinto de Magalh\u00e3es Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Soares", 
            "givenName": "Gabriela", 
            "id": "sg:person.0642615705.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642615705.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital Universitario Son Espases", 
              "id": "https://www.grid.ac/institutes/grid.411164.7", 
              "name": [
                "Departamento de neurometab\u00f3licas, Hospital Universitario Son Espases, Palma de Mallorca, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Solaeche", 
            "givenName": "Lucia", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Karadeniz Technical University", 
              "id": "https://www.grid.ac/institutes/grid.31564.35", 
              "name": [
                "Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sonmez", 
            "givenName": "Fatma Mujgan", 
            "id": "sg:person.0737022000.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737022000.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Splitt", 
            "givenName": "Miranda", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Steenbeek", 
            "givenName": "Duco", 
            "id": "sg:person.0664320517.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664320517.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Maastricht University Medical Centre", 
              "id": "https://www.grid.ac/institutes/grid.412966.e", 
              "name": [
                "Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stegmann", 
            "givenName": "Alexander P. A.", 
            "id": "sg:person.014211302264.67", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014211302264.67"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Maastricht University Medical Centre", 
              "id": "https://www.grid.ac/institutes/grid.412966.e", 
              "name": [
                "Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stumpel", 
            "givenName": "Constance T. R. M.", 
            "id": "sg:person.012033776647.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012033776647.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tanabe", 
            "givenName": "Saori", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Enva Engineering, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Uctepe", 
            "givenName": "Eyyup", 
            "id": "sg:person.015156762157.67", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015156762157.67"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hacettepe University", 
              "id": "https://www.grid.ac/institutes/grid.14442.37", 
              "name": [
                "Department of Pediatric Genetics, Ihsan Dogramaci Children\u2019s Hospital, Hacettepe University School of Medicine, Ankara, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Utine", 
            "givenName": "G. Eda", 
            "id": "sg:person.01117331017.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Medical Center Groningen", 
              "id": "https://www.grid.ac/institutes/grid.4494.d", 
              "name": [
                "University of Groningen, University Medical Center Groningen, Department of Genetics, 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": {
              "name": [
                "Division of Neurology, Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Venkateswaran", 
            "givenName": "Sunita", 
            "id": "sg:person.01255720454.59", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255720454.59"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e9 Libre de Bruxelles", 
              "id": "https://www.grid.ac/institutes/grid.4989.c", 
              "name": [
                "Department of Genetics, H\u00f4pital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium", 
                "Department of Genetics, H\u00f4pital Erasme. ULB Center of Medical Genetics, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vilain", 
            "givenName": "Catheline", 
            "id": "sg:person.01277676373.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277676373.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Service de g\u00e9n\u00e9tique clinique Guy Fontaine, CHRU de Lille\u2013H\u00f4pital Jeanne de Flandre, Lille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vincent-Delorme", 
            "givenName": "Catherine", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Silfhout", 
            "givenName": "Anneke T. Vulto-van", 
            "id": "sg:person.016310104147.40", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016310104147.40"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wheeler", 
            "givenName": "Patricia", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wilson", 
            "givenName": "Golder N.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Health Service", 
              "id": "https://www.grid.ac/institutes/grid.451052.7", 
              "name": [
                "Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wilson", 
            "givenName": "Louise C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universit\u00e4tsmedizin G\u00f6ttingen", 
              "id": "https://www.grid.ac/institutes/grid.411984.1", 
              "name": [
                "Institute of Human Genetics, University Medical Center G\u00f6ttingen, G\u00f6ttingen, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wollnik", 
            "givenName": "Bernd", 
            "id": "sg:person.01256037226.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256037226.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Shinshu University Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412568.c", 
              "name": [
                "Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kosho", 
            "givenName": "Tomoki", 
            "id": "sg:person.0742621315.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742621315.00"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Heinrich Heine University D\u00fcsseldorf", 
              "id": "https://www.grid.ac/institutes/grid.411327.2", 
              "name": [
                "Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, D\u00fcsseldorf, Germany"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wieczorek", 
            "givenName": "Dagmar", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Washington", 
              "id": "https://www.grid.ac/institutes/grid.34477.33", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eichler", 
            "givenName": "Evan", 
            "id": "sg:person.0705101106.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Human Genetics, 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": {
              "name": [
                "Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Vries", 
            "givenName": "Bert B. A.", 
            "id": "sg:person.01243511530.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "St Mary's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.416523.7", 
              "name": [
                "Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary\u2019s Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Clayton-Smith", 
            "givenName": "Jill", 
            "id": "sg:person.01054062254.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054062254.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Leiden University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.10419.3d", 
              "name": [
                "Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Santen", 
            "givenName": "Gijs W. E.", 
            "id": "sg:person.01207307261.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207307261.14"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1002/ajmg.a.37861", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000336479"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.36738", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001520310"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4008/jcrpe.v1i3.53", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002152758"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2219", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003601545", 
              "https://doi.org/10.1038/ng.2219"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature14135", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007784461", 
              "https://doi.org/10.1038/nature14135"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-015-1898-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007987431", 
              "https://doi.org/10.1186/s12864-015-1898-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2011.01755.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009355112"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5582/irdr.2014.01021", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009767314"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.36515", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011190511"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.36515", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011190511"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.c.31416", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012855528"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2016.146", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013046396", 
              "https://doi.org/10.1038/ejhg.2016.146"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013147490"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.37945", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014978626"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1750-1172-9-43", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017707295", 
              "https://doi.org/10.1186/1750-1172-9-43"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2015.04.013", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018695490"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2217", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018858352", 
              "https://doi.org/10.1038/ng.2217"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.c.31414", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022286266"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1159/000321577", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022675077"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2012.02.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024780233"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.37405", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026014668"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(14)61705-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028405230"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5582/irdr.2014.01040", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032244401"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5582/irdr.2014.01040", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032244401"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3390/cells5040045", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033867270"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.braindev.2014.08.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039505357"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2431-13-59", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041140038", 
              "https://doi.org/10.1186/1471-2431-13-59"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2014.25", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042647048", 
              "https://doi.org/10.1038/ejhg.2014.25"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/cge.12225", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043542575"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22347", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044142673"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.c.31410", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044828455"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2012.164", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045189328", 
              "https://doi.org/10.1038/gim.2012.164"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2009.03.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048795148"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddt366", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049566815"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2011.24", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050012197", 
              "https://doi.org/10.1038/ejhg.2011.24"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.32111", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052869618"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/aww181", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059445199"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.38143", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084007788"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-017-3671-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085558876", 
              "https://doi.org/10.1186/s12864-017-3671-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-017-3671-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085558876", 
              "https://doi.org/10.1186/s12864-017-3671-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.38327", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1090573180"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.7554/elife.25730", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1090619104"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-11-08", 
        "datePublishedReg": "2018-11-08", 
        "description": "PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.\nMETHODS: Clinicians entered clinical data in an extensive web-based survey.\nRESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p\u2009<\u20090.001) in ARID1B-CSS patients. No other significant differences were identified.\nCONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/s41436-018-0330-z", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1119411", 
            "issn": [
              "1098-3600", 
              "1530-0366"
            ], 
            "name": "Genetics in Medicine", 
            "type": "Periodical"
          }
        ], 
        "name": "The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin\u2013Siris syndrome", 
        "pagination": "1-13", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "b2cc167577058e11e8048bab4692bca9f0495678e8cf5161ddc270aee806ba14"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30349098"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "9815831"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41436-018-0330-z"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1107763597"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41436-018-0330-z", 
          "https://app.dimensions.ai/details/publication/pub.1107763597"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T01:23", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8697_00000609.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/s41436-018-0330-z"
      }
    ]
     

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

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0330-z'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0330-z'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0330-z'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0330-z'


     

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

    1100 TRIPLES      21 PREDICATES      65 URIs      18 LITERALS      7 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41436-018-0330-z schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author Nb2982f0acd104ebb9ac5b35de73b187c
    4 schema:citation sg:pub.10.1038/ejhg.2011.24
    5 sg:pub.10.1038/ejhg.2014.25
    6 sg:pub.10.1038/ejhg.2016.146
    7 sg:pub.10.1038/gim.2012.164
    8 sg:pub.10.1038/nature14135
    9 sg:pub.10.1038/ng.2217
    10 sg:pub.10.1038/ng.2219
    11 sg:pub.10.1186/1471-2431-13-59
    12 sg:pub.10.1186/1750-1172-9-43
    13 sg:pub.10.1186/s12864-015-1898-1
    14 sg:pub.10.1186/s12864-017-3671-0
    15 https://doi.org/10.1002/ajmg.a.32111
    16 https://doi.org/10.1002/ajmg.a.36515
    17 https://doi.org/10.1002/ajmg.a.36738
    18 https://doi.org/10.1002/ajmg.a.37405
    19 https://doi.org/10.1002/ajmg.a.37861
    20 https://doi.org/10.1002/ajmg.a.37945
    21 https://doi.org/10.1002/ajmg.a.38143
    22 https://doi.org/10.1002/ajmg.a.38327
    23 https://doi.org/10.1002/ajmg.c.31410
    24 https://doi.org/10.1002/ajmg.c.31414
    25 https://doi.org/10.1002/ajmg.c.31416
    26 https://doi.org/10.1002/humu.22347
    27 https://doi.org/10.1002/humu.22394
    28 https://doi.org/10.1016/j.ajhg.2009.03.010
    29 https://doi.org/10.1016/j.ajhg.2012.02.007
    30 https://doi.org/10.1016/j.ajhg.2015.04.013
    31 https://doi.org/10.1016/j.braindev.2014.08.009
    32 https://doi.org/10.1016/s0140-6736(14)61705-0
    33 https://doi.org/10.1093/brain/aww181
    34 https://doi.org/10.1093/hmg/ddt366
    35 https://doi.org/10.1111/cge.12225
    36 https://doi.org/10.1111/j.1399-0004.2011.01755.x
    37 https://doi.org/10.1159/000321577
    38 https://doi.org/10.3390/cells5040045
    39 https://doi.org/10.4008/jcrpe.v1i3.53
    40 https://doi.org/10.5582/irdr.2014.01021
    41 https://doi.org/10.5582/irdr.2014.01040
    42 https://doi.org/10.7554/elife.25730
    43 schema:datePublished 2018-11-08
    44 schema:datePublishedReg 2018-11-08
    45 schema:description PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. METHODS: Clinicians entered clinical data in an extensive web-based survey. RESULTS: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. CONCLUSION: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.
    46 schema:genre research_article
    47 schema:inLanguage en
    48 schema:isAccessibleForFree true
    49 schema:isPartOf sg:journal.1119411
    50 schema:name The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
    51 schema:pagination 1-13
    52 schema:productId N43e6a77928554e1fba2cee2e876790c4
    53 N6e7cd950bcf5489899f51578225c2cea
    54 N6eb80661105c45ca8d7e9563719ef9c6
    55 N764e347fbb524423916114ea2c6f1101
    56 N7c6d35001ad2442fa19049d4a551fd91
    57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107763597
    58 https://doi.org/10.1038/s41436-018-0330-z
    59 schema:sdDatePublished 2019-04-11T01:23
    60 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    61 schema:sdPublisher N3dbd0a5307d442eca01f4860bd8ce7a8
    62 schema:url https://www.nature.com/articles/s41436-018-0330-z
    63 sgo:license sg:explorer/license/
    64 sgo:sdDataset articles
    65 rdf:type schema:ScholarlyArticle
    66 N00246eb1a55b4b9a866e651bf7b35707 rdf:first sg:person.012154573025.84
    67 rdf:rest N188d878609a547b28394d4c734858e6c
    68 N00727d8b998d4bc7ba0207dbb309bae1 rdf:first sg:person.01210254046.02
    69 rdf:rest Nc7a3bcd7ead04c97ba1bac83433ad266
    70 N017ae7405af1464fb5adc89d34b63ac0 schema:name Division of Neurology, Department of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada
    71 rdf:type schema:Organization
    72 N02584e425ffc41729e41d25881f90b37 rdf:first sg:person.01324340574.51
    73 rdf:rest Nc0665c643ebb45ae871a6b9b4885935e
    74 N043717d3e2214f0c91d09f521459ae5c rdf:first N65ff3c41e9254a1297b07b98272ffff2
    75 rdf:rest N4ef59f4ecbc54d98a2b264fe80c0d0c1
    76 N05561b98397c496a89573fb3bf75a415 rdf:first sg:person.01255657033.26
    77 rdf:rest N0eb283c7dc32453b891e55616f0d648c
    78 N0cb4e8f89b814cd3ac115ad24f707f7a schema:affiliation https://www.grid.ac/institutes/grid.5596.f
    79 schema:familyName Destree
    80 schema:givenName Anne
    81 rdf:type schema:Person
    82 N0dd5eedbb0834212b731b3f364686970 rdf:first N3370f383a9754fe6a84e58f02abe2b4a
    83 rdf:rest N6792bb54a44f4f26861bcb50e2c18b6b
    84 N0eb283c7dc32453b891e55616f0d648c rdf:first N642ac43b0cc84e7d96336008dfca01ed
    85 rdf:rest N1abeb78ca1cd4c38b904c8b14dee6f5f
    86 N0f7a756ce9d04e69b475127fc65d1a7f schema:affiliation Na197f0c085c543f5a12e7524e92957b9
    87 schema:familyName Milunsky
    88 schema:givenName Jeff
    89 rdf:type schema:Person
    90 N1382876a1b02471d99ca0c8ff43fd139 rdf:first sg:person.01274666201.22
    91 rdf:rest N430e4b7a2d6b4e9992b6263f5dc2a293
    92 N144be878f72841bb857fb163033d6971 rdf:first sg:person.01174302323.23
    93 rdf:rest Ncde3fdd385684d6785e6a40bbcc98b67
    94 N17b23f1dae514dfd8c4e19aa6b52f466 schema:name Enva Engineering, Ankara, Turkey
    95 rdf:type schema:Organization
    96 N184a579e3380463b805122885fca192a schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    97 schema:familyName Olminkhof
    98 schema:givenName Sharon N. M.
    99 rdf:type schema:Person
    100 N188d878609a547b28394d4c734858e6c rdf:first sg:person.01135743615.15
    101 rdf:rest N1e36cb4f27454fb5aa86e0e397ac3a3b
    102 N1993335807dd47d49f08000b54ca6e86 rdf:first sg:person.07560340507.07
    103 rdf:rest N527e5f78878048a186d660ee95dff235
    104 N19c0c2b15745473aaa71d63c6bb2a99d rdf:first Nd5bf2e40765a41efa5d3fe2b9f18819c
    105 rdf:rest N9e50d7270ef244559428ade5bfe3b128
    106 N1abeb78ca1cd4c38b904c8b14dee6f5f rdf:first sg:person.01157067411.76
    107 rdf:rest N20a9365fbc7447b0b0f50b20a9b55feb
    108 N1bb0076804aa4b70968cc62c2966186c rdf:first N3731916d568141328d9b93936fff4aa3
    109 rdf:rest N587db526dbbc43ceb9534dad7266a1f6
    110 N1d6ff381f7734384b73b60aa5423ce67 rdf:first sg:person.01302357456.06
    111 rdf:rest N00246eb1a55b4b9a866e651bf7b35707
    112 N1dfd3ed296bb4f3db14b024a8c4149ed rdf:first sg:person.012411712222.48
    113 rdf:rest N32e3a5d3f2324006a64ff88234528b2e
    114 N1e36cb4f27454fb5aa86e0e397ac3a3b rdf:first sg:person.01300670057.34
    115 rdf:rest N67cc329c1614406b893d59a5f9b91cc4
    116 N1ed2e2f372c247afa931f789da63f0c1 schema:name KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA
    117 rdf:type schema:Organization
    118 N20a9365fbc7447b0b0f50b20a9b55feb rdf:first sg:person.01200077154.54
    119 rdf:rest N906e3106da1246d78c8b2a650cfe846b
    120 N2209666a055f4b07887a2a1d88b949c6 rdf:first sg:person.01272603247.05
    121 rdf:rest N02584e425ffc41729e41d25881f90b37
    122 N252a493cc1ae4dab99a805182ab7ec78 rdf:first sg:person.01210425021.96
    123 rdf:rest N1993335807dd47d49f08000b54ca6e86
    124 N25c43c0b33e043a89d3d56629f51af4d rdf:first sg:person.01310017365.24
    125 rdf:rest N9bfed37db7064600b9cddc3a2d233658
    126 N26dfd477905045a4af71db173c5aa071 rdf:first sg:person.012320241437.02
    127 rdf:rest Nef56ff3a3ef54f6caff560d2c1c647f2
    128 N26e1d6642e9b46cbae36946f599c7f89 schema:affiliation https://www.grid.ac/institutes/grid.411164.7
    129 schema:familyName Solaeche
    130 schema:givenName Lucia
    131 rdf:type schema:Person
    132 N27c1ba35bc434f25bf7b8ea741dbe4ae rdf:first N92891a03194946218f347fa76a165d3c
    133 rdf:rest N1bb0076804aa4b70968cc62c2966186c
    134 N27f8c97828e74ed8905d1f8a76c05a40 schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    135 rdf:type schema:Organization
    136 N2c99631a8c024c16a41fd982e5725806 rdf:first sg:person.01165726761.66
    137 rdf:rest Na46af341182949828b5391b3a9715922
    138 N2df2e0bb12cf4bebb7b2958e1f1183a9 rdf:first Ne3104e3dc61147f38a3f7f47d7c96aa8
    139 rdf:rest N65af6cbe7e064906983ee6ea2fb61962
    140 N32654a121c8e48cda6f52092972ac362 schema:name Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Osaka, Japan
    141 rdf:type schema:Organization
    142 N32e3a5d3f2324006a64ff88234528b2e rdf:first sg:person.01150412261.48
    143 rdf:rest N4169cc732b774ab699c1116bd745827e
    144 N3370f383a9754fe6a84e58f02abe2b4a schema:affiliation https://www.grid.ac/institutes/grid.84393.35
    145 schema:familyName Orellana
    146 schema:givenName Carmen
    147 rdf:type schema:Person
    148 N351c2e18a82941fd8ada602c8d7f08c5 schema:affiliation https://www.grid.ac/institutes/grid.410714.7
    149 schema:familyName Kato
    150 schema:givenName Mitsuhiro
    151 rdf:type schema:Person
    152 N3731916d568141328d9b93936fff4aa3 schema:affiliation Nc17e6ae5585c4d45b8cd6189d5c889d9
    153 schema:familyName McKee
    154 schema:givenName Shane
    155 rdf:type schema:Person
    156 N3dbd0a5307d442eca01f4860bd8ce7a8 schema:name Springer Nature - SN SciGraph project
    157 rdf:type schema:Organization
    158 N3f69c5f998eb4b788f503ae995a67499 schema:affiliation N1ed2e2f372c247afa931f789da63f0c1
    159 schema:familyName Wilson
    160 schema:givenName Golder N.
    161 rdf:type schema:Person
    162 N4078ca5262a142c782fb505a45828b31 rdf:first sg:person.01255720454.59
    163 rdf:rest Nfe8fad7099bf4669b40db66ee38212bd
    164 N4169cc732b774ab699c1116bd745827e rdf:first sg:person.01162000360.51
    165 rdf:rest N59bc43dbbfa54e2bb8e24c4e7518f287
    166 N42bbf859ffc8413eb624794ba95db5ab schema:name Genpute Computation Technologies Company, Istanbul, Turkey
    167 rdf:type schema:Organization
    168 N42fe7eda669e44a495fc30042adab4b1 rdf:first sg:person.0706337710.19
    169 rdf:rest N5a029f6cdee448839fe1269ce81cc244
    170 N430e4b7a2d6b4e9992b6263f5dc2a293 rdf:first Nfd81d36d75e54456a21ef1543253458e
    171 rdf:rest N7af6bf3a904c47cca697e756bf6d2888
    172 N43e6a77928554e1fba2cee2e876790c4 schema:name dimensions_id
    173 schema:value pub.1107763597
    174 rdf:type schema:PropertyValue
    175 N46a65697d7254950a3e783f6d26a987c rdf:first sg:person.01207267334.99
    176 rdf:rest N144be878f72841bb857fb163033d6971
    177 N480a25d1d974418681650fa394e40b48 rdf:first N861bb3ddeb2d4edcbadcd337e046e16d
    178 rdf:rest Nf30a39ea8098455d9ab1c82fa87ebed6
    179 N4aaea8b2c7d6460f89f51ba74b26fd22 rdf:first sg:person.01117331017.35
    180 rdf:rest N54c616cf67a244b2ab9c79757c777e3c
    181 N4baa0372c92f4bad9134c561623ef4ce schema:name Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom
    182 rdf:type schema:Organization
    183 N4db3435ab49d48c0999f42f97c439dc8 rdf:first N3f69c5f998eb4b788f503ae995a67499
    184 rdf:rest Naf7dd0766fd14b2d87bf122bf8853270
    185 N4ea4570eaeac4e1692dbf4803b2ca3db rdf:first sg:person.01021436327.00
    186 rdf:rest N995f964456894d71a703314d4126a767
    187 N4ef59f4ecbc54d98a2b264fe80c0d0c1 rdf:first sg:person.01065703565.84
    188 rdf:rest Nb98c0df5fe4c4e42b3a64f42226fff31
    189 N4f6e6f5528384f1ab88c74e124ee96b4 rdf:first N26e1d6642e9b46cbae36946f599c7f89
    190 rdf:rest Nf44093a92618469a83c35380bad36814
    191 N5048a9a72b07411d91d4c85003150861 schema:affiliation https://www.grid.ac/institutes/grid.29980.3a
    192 schema:familyName Robertson
    193 schema:givenName Stephen P.
    194 rdf:type schema:Person
    195 N527e5f78878048a186d660ee95dff235 rdf:first N184a579e3380463b805122885fca192a
    196 rdf:rest N0dd5eedbb0834212b731b3f364686970
    197 N530cfee573c243f1a73f816da03eff4e rdf:first sg:person.01252207674.28
    198 rdf:rest N1d6ff381f7734384b73b60aa5423ce67
    199 N54057e36625043a5a10cbe69c9d6ffb1 rdf:first sg:person.0742621315.00
    200 rdf:rest N88f9bd1e273a467f8da027f88e0de391
    201 N54c616cf67a244b2ab9c79757c777e3c rdf:first sg:person.01116326257.95
    202 rdf:rest N4078ca5262a142c782fb505a45828b31
    203 N56fcdac5e1bb4a1e85f4a927d0576dd6 rdf:first Nd34c2ac170e447728c7f060a07ce43d8
    204 rdf:rest N1382876a1b02471d99ca0c8ff43fd139
    205 N579efc8366d64904a882e543a0859c6b schema:name Department of Pediatric Genetics, Hematology Oncology Research & Training Children’s Hospital, Ankara, Turkey
    206 rdf:type schema:Organization
    207 N587db526dbbc43ceb9534dad7266a1f6 rdf:first sg:person.01177442511.60
    208 rdf:rest N59c47aaf8dad435bbe186dd9f87d37e7
    209 N59bc43dbbfa54e2bb8e24c4e7518f287 rdf:first sg:person.0711772123.60
    210 rdf:rest Nb7dd26c1c9b7413482c5ab5146060228
    211 N59c47aaf8dad435bbe186dd9f87d37e7 rdf:first sg:person.0641724363.18
    212 rdf:rest N5da6517c0cb74943ae51e8d2c5074cbf
    213 N5a029f6cdee448839fe1269ce81cc244 rdf:first sg:person.01237765320.71
    214 rdf:rest N26dfd477905045a4af71db173c5aa071
    215 N5c9cbc1ce2a247468157110004c02a8d schema:affiliation https://www.grid.ac/institutes/grid.411327.2
    216 schema:familyName Wieczorek
    217 schema:givenName Dagmar
    218 rdf:type schema:Person
    219 N5cb0e8354c3b4fed8c7df38af324eae8 schema:affiliation Nd915cc59995049279ce0ada3b46ce50d
    220 schema:familyName Berry
    221 schema:givenName Katherine
    222 rdf:type schema:Person
    223 N5cbf2eb86eff4da28e32d0f2b28666eb schema:affiliation https://www.grid.ac/institutes/grid.479682.6
    224 schema:familyName Elcioglu
    225 schema:givenName Nursel
    226 rdf:type schema:Person
    227 N5da6517c0cb74943ae51e8d2c5074cbf rdf:first N0f7a756ce9d04e69b475127fc65d1a7f
    228 rdf:rest N6120a85e1b8f4047b5ac916b02cc4f0b
    229 N5f86128121ec40b686ac170174b3b9fc schema:name Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia
    230 rdf:type schema:Organization
    231 N60c7c017b6f3462393a77309a27a2cd6 rdf:first sg:person.01116155067.36
    232 rdf:rest N7779576ac6dd44ad8a012167f6131a7e
    233 N6120a85e1b8f4047b5ac916b02cc4f0b rdf:first sg:person.0670142627.69
    234 rdf:rest N9ca60ec916db4d638f3d168d9e4048e7
    235 N621d253798444f2b93d8602372d544e9 schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    236 rdf:type schema:Organization
    237 N640f382b5d2041208bcd445700a75ce8 rdf:first sg:person.07440063657.55
    238 rdf:rest N9cd750f3b4594595a6ec4a765f946b0c
    239 N642ac43b0cc84e7d96336008dfca01ed schema:affiliation https://www.grid.ac/institutes/grid.412764.2
    240 schema:familyName Adachi-Fukuda
    241 schema:givenName Miho
    242 rdf:type schema:Person
    243 N6502ff849fd143e4baf8536890c54b51 schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    244 rdf:type schema:Organization
    245 N65af6cbe7e064906983ee6ea2fb61962 rdf:first N5cbf2eb86eff4da28e32d0f2b28666eb
    246 rdf:rest N530cfee573c243f1a73f816da03eff4e
    247 N65ff3c41e9254a1297b07b98272ffff2 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    248 schema:familyName Heitink
    249 schema:givenName Karin R.
    250 rdf:type schema:Person
    251 N6735d74786be4ca8990733643ce3365a schema:affiliation https://www.grid.ac/institutes/grid.451052.7
    252 schema:familyName Wilson
    253 schema:givenName Louise C.
    254 rdf:type schema:Person
    255 N6792bb54a44f4f26861bcb50e2c18b6b rdf:first sg:person.01226105057.13
    256 rdf:rest N8d5faa0bb6974d37a4996628aee6f97a
    257 N67cc329c1614406b893d59a5f9b91cc4 rdf:first sg:person.01300736575.26
    258 rdf:rest Na6c58dcae2ae481794f6c8d7cd41b9b5
    259 N68a207a6ecde45b2b8c6e8043f2ee15d schema:name Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany
    260 rdf:type schema:Organization
    261 N6911346b550843e3889d354906bde5ab rdf:first sg:person.0705101106.89
    262 rdf:rest N2c99631a8c024c16a41fd982e5725806
    263 N6b7f6c22f0d04222acf2ce0f2451e645 rdf:first sg:person.01026716422.64
    264 rdf:rest Nae62337340344293afa0d487c620bdca
    265 N6e4207d03f02476c8ed183298f19b86e rdf:first sg:person.01207307261.14
    266 rdf:rest rdf:nil
    267 N6e7cd950bcf5489899f51578225c2cea schema:name pubmed_id
    268 schema:value 30349098
    269 rdf:type schema:PropertyValue
    270 N6eb80661105c45ca8d7e9563719ef9c6 schema:name nlm_unique_id
    271 schema:value 9815831
    272 rdf:type schema:PropertyValue
    273 N72244b7d174d4a1ba66533633a151b49 schema:affiliation N4baa0372c92f4bad9134c561623ef4ce
    274 schema:familyName Splitt
    275 schema:givenName Miranda
    276 rdf:type schema:Person
    277 N764e347fbb524423916114ea2c6f1101 schema:name readcube_id
    278 schema:value b2cc167577058e11e8048bab4692bca9f0495678e8cf5161ddc270aee806ba14
    279 rdf:type schema:PropertyValue
    280 N7779576ac6dd44ad8a012167f6131a7e rdf:first N0cb4e8f89b814cd3ac115ad24f707f7a
    281 rdf:rest N918b44fa7eaa4439afe77f42cc803a5a
    282 N799120ccf9bc4761977c96603e620139 rdf:first sg:person.0731074614.93
    283 rdf:rest N4ea4570eaeac4e1692dbf4803b2ca3db
    284 N7a59227ab5474a5c8dd77fc8591cc8c9 rdf:first sg:person.0642615705.35
    285 rdf:rest N4f6e6f5528384f1ab88c74e124ee96b4
    286 N7af6bf3a904c47cca697e756bf6d2888 rdf:first Nc8f046bbda164715aaf39fa95efd7fba
    287 rdf:rest N2209666a055f4b07887a2a1d88b949c6
    288 N7bc1c889c5704b3d85e0a1fb6cd06acf rdf:first sg:person.012033776647.78
    289 rdf:rest Nf7999b0203dd48c28b21e189e4f60c8b
    290 N7c6d35001ad2442fa19049d4a551fd91 schema:name doi
    291 schema:value 10.1038/s41436-018-0330-z
    292 rdf:type schema:PropertyValue
    293 N80fab1f4ada741d1bb6fec82bf469eb9 rdf:first sg:person.014211302264.67
    294 rdf:rest N7bc1c889c5704b3d85e0a1fb6cd06acf
    295 N8112a8d02e3140c2b31aea083bf7c7c1 rdf:first sg:person.0771377770.22
    296 rdf:rest N05561b98397c496a89573fb3bf75a415
    297 N815739e3372348f7a7ef271d6e7da751 rdf:first sg:person.077025745.17
    298 rdf:rest N56fcdac5e1bb4a1e85f4a927d0576dd6
    299 N82beb7057d5d40fc81c2b9d641c70b10 rdf:first sg:person.0735167013.01
    300 rdf:rest N9cc10acf310d4545bbf99d6738af852e
    301 N82d52ab37b0c45a29db87e77ac014043 schema:affiliation https://www.grid.ac/institutes/grid.416135.4
    302 schema:familyName Mancini
    303 schema:givenName Grazia M. S.
    304 rdf:type schema:Person
    305 N861bb3ddeb2d4edcbadcd337e046e16d schema:affiliation https://www.grid.ac/institutes/grid.84393.35
    306 schema:familyName Martinez
    307 schema:givenName Francisco
    308 rdf:type schema:Person
    309 N877d4648a6c44fa4a9aa71115b26cd85 schema:affiliation Na0e99cb614d84a839a62c069df401eb9
    310 schema:familyName Wheeler
    311 schema:givenName Patricia
    312 rdf:type schema:Person
    313 N88f9bd1e273a467f8da027f88e0de391 rdf:first N5c9cbc1ce2a247468157110004c02a8d
    314 rdf:rest N6911346b550843e3889d354906bde5ab
    315 N8b9d321bc987412080b987464b75ec31 rdf:first sg:person.015156762157.67
    316 rdf:rest N4aaea8b2c7d6460f89f51ba74b26fd22
    317 N8d5faa0bb6974d37a4996628aee6f97a rdf:first sg:person.011432337602.83
    318 rdf:rest Ne35fd703920641059e09e5c8a8f9f768
    319 N8fe0f84f22cf4ded8e3f131a3ec2518e schema:affiliation Nb9d88c18f6f34f719cb5825fa5af5782
    320 schema:familyName Tanabe
    321 schema:givenName Saori
    322 rdf:type schema:Person
    323 N906e3106da1246d78c8b2a650cfe846b rdf:first sg:person.01034163176.94
    324 rdf:rest N640f382b5d2041208bcd445700a75ce8
    325 N918b44fa7eaa4439afe77f42cc803a5a rdf:first sg:person.0606024306.21
    326 rdf:rest N2df2e0bb12cf4bebb7b2958e1f1183a9
    327 N92891a03194946218f347fa76a165d3c schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    328 schema:familyName McGuire
    329 schema:givenName Marianne
    330 rdf:type schema:Person
    331 N9653bd0f8f3d476e8f8286825311570c schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    332 rdf:type schema:Organization
    333 N995f964456894d71a703314d4126a767 rdf:first Nfad4c7e9ff9848ed99383cebf1a6de9a
    334 rdf:rest N60c7c017b6f3462393a77309a27a2cd6
    335 N9b480d4c05cc4d189fa61346252e3cb5 schema:affiliation Na0b81d0889b34514be6a1cfa22cc91be
    336 schema:familyName Vincent-Delorme
    337 schema:givenName Catherine
    338 rdf:type schema:Person
    339 N9bfed37db7064600b9cddc3a2d233658 rdf:first sg:person.01204327114.64
    340 rdf:rest N1dfd3ed296bb4f3db14b024a8c4149ed
    341 N9ca60ec916db4d638f3d168d9e4048e7 rdf:first sg:person.0620272120.11
    342 rdf:rest N00727d8b998d4bc7ba0207dbb309bae1
    343 N9cc10acf310d4545bbf99d6738af852e rdf:first sg:person.01230712171.13
    344 rdf:rest N42fe7eda669e44a495fc30042adab4b1
    345 N9cd750f3b4594595a6ec4a765f946b0c rdf:first sg:person.0644306630.27
    346 rdf:rest Nc3222f9fcb034ab5962b2cd1b22f5011
    347 N9df27cad5e8447818c24d83c34a6a988 schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    348 rdf:type schema:Organization
    349 N9e50d7270ef244559428ade5bfe3b128 rdf:first Nc651ea63442f456ea9c7cf44eead8f1b
    350 rdf:rest Ned905b235b3d4d14aa7007e990b57fe7
    351 Na0b81d0889b34514be6a1cfa22cc91be schema:name Service de génétique clinique Guy Fontaine, CHRU de Lille–Hôpital Jeanne de Flandre, Lille, France
    352 rdf:type schema:Organization
    353 Na0e99cb614d84a839a62c069df401eb9 schema:name Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA
    354 rdf:type schema:Organization
    355 Na197f0c085c543f5a12e7524e92957b9 schema:name Center for Human Genetics Inc, Cambridge, MA, USA
    356 rdf:type schema:Organization
    357 Na41f5089b8e2480c9f8c702fc46cc26a rdf:first N9b480d4c05cc4d189fa61346252e3cb5
    358 rdf:rest Ncdbdd3100d574da48acaa201ad5716d5
    359 Na46af341182949828b5391b3a9715922 rdf:first sg:person.01243511530.45
    360 rdf:rest Neffa5ad2fd9549499c5e906887995791
    361 Na6c58dcae2ae481794f6c8d7cd41b9b5 rdf:first sg:person.01014634457.02
    362 rdf:rest N043717d3e2214f0c91d09f521459ae5c
    363 Nae62337340344293afa0d487c620bdca rdf:first sg:person.0763434202.94
    364 rdf:rest Nd7067142faeb4110b4589c13b8e31346
    365 Naf7dd0766fd14b2d87bf122bf8853270 rdf:first N6735d74786be4ca8990733643ce3365a
    366 rdf:rest Ne28db36fe9a745aabb6ab2c70240699a
    367 Nb2982f0acd104ebb9ac5b35de73b187c rdf:first sg:person.013305075124.72
    368 rdf:rest N8112a8d02e3140c2b31aea083bf7c7c1
    369 Nb29c2c40cd624f7d8320353e0a9c004a rdf:first N5048a9a72b07411d91d4c85003150861
    370 rdf:rest N46a65697d7254950a3e783f6d26a987c
    371 Nb7dd26c1c9b7413482c5ab5146060228 rdf:first sg:person.01037035230.75
    372 rdf:rest N799120ccf9bc4761977c96603e620139
    373 Nb98c0df5fe4c4e42b3a64f42226fff31 rdf:first sg:person.014213230601.99
    374 rdf:rest N19c0c2b15745473aaa71d63c6bb2a99d
    375 Nb9b466a436cb4351a15873758f1c0c4e rdf:first sg:person.015406441444.08
    376 rdf:rest N480a25d1d974418681650fa394e40b48
    377 Nb9d88c18f6f34f719cb5825fa5af5782 schema:name Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan
    378 rdf:type schema:Organization
    379 Nc0665c643ebb45ae871a6b9b4885935e rdf:first N82d52ab37b0c45a29db87e77ac014043
    380 rdf:rest Nb9b466a436cb4351a15873758f1c0c4e
    381 Nc17e6ae5585c4d45b8cd6189d5c889d9 schema:name Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland
    382 rdf:type schema:Organization
    383 Nc2970ebcf73347cd93fb41e5cdee8128 rdf:first N877d4648a6c44fa4a9aa71115b26cd85
    384 rdf:rest N4db3435ab49d48c0999f42f97c439dc8
    385 Nc3222f9fcb034ab5962b2cd1b22f5011 rdf:first N5cb0e8354c3b4fed8c7df38af324eae8
    386 rdf:rest N25c43c0b33e043a89d3d56629f51af4d
    387 Nc651ea63442f456ea9c7cf44eead8f1b schema:affiliation https://www.grid.ac/institutes/grid.415216.5
    388 schema:familyName Hunt
    389 schema:givenName David
    390 rdf:type schema:Person
    391 Nc7a3bcd7ead04c97ba1bac83433ad266 rdf:first sg:person.0715220567.52
    392 rdf:rest N252a493cc1ae4dab99a805182ab7ec78
    393 Nc8f046bbda164715aaf39fa95efd7fba schema:affiliation https://www.grid.ac/institutes/grid.451052.7
    394 schema:familyName Lees
    395 schema:givenName Melissa
    396 rdf:type schema:Person
    397 Ncdbdd3100d574da48acaa201ad5716d5 rdf:first sg:person.016310104147.40
    398 rdf:rest Nc2970ebcf73347cd93fb41e5cdee8128
    399 Ncde3fdd385684d6785e6a40bbcc98b67 rdf:first sg:person.013650715570.44
    400 rdf:rest N82beb7057d5d40fc81c2b9d641c70b10
    401 Nd20fcc89d49043e887088982eb2e9549 rdf:first sg:person.0664320517.25
    402 rdf:rest N80fab1f4ada741d1bb6fec82bf469eb9
    403 Nd34c2ac170e447728c7f060a07ce43d8 schema:affiliation https://www.grid.ac/institutes/grid.414197.e
    404 schema:familyName Lammers
    405 schema:givenName Kylin
    406 rdf:type schema:Person
    407 Nd5bf2e40765a41efa5d3fe2b9f18819c schema:affiliation https://www.grid.ac/institutes/grid.6363.0
    408 schema:familyName Horn
    409 schema:givenName Denise
    410 rdf:type schema:Person
    411 Nd7067142faeb4110b4589c13b8e31346 rdf:first Nfc0cb139dec04f78a9f723113a0ba188
    412 rdf:rest N815739e3372348f7a7ef271d6e7da751
    413 Nd8d173cf8e4141ecb35c042e47082a75 schema:name Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    414 rdf:type schema:Organization
    415 Nd915cc59995049279ce0ada3b46ce50d schema:name Department of Medical Genetics, Shodair Hospital, Helena, MT, USA
    416 rdf:type schema:Organization
    417 Ne241414837004494a2f9bc0892cc906c rdf:first N72244b7d174d4a1ba66533633a151b49
    418 rdf:rest Nd20fcc89d49043e887088982eb2e9549
    419 Ne28db36fe9a745aabb6ab2c70240699a rdf:first sg:person.01256037226.29
    420 rdf:rest N54057e36625043a5a10cbe69c9d6ffb1
    421 Ne3104e3dc61147f38a3f7f47d7c96aa8 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
    422 schema:familyName Earl
    423 schema:givenName Rachel
    424 rdf:type schema:Person
    425 Ne35fd703920641059e09e5c8a8f9f768 rdf:first sg:person.01144740436.84
    426 rdf:rest Nb29c2c40cd624f7d8320353e0a9c004a
    427 Ne41b8e1c4b7b4cb092abb7f54737d58b schema:name Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
    428 rdf:type schema:Organization
    429 Ned905b235b3d4d14aa7007e990b57fe7 rdf:first sg:person.0701712537.00
    430 rdf:rest Nf41a3c976bd94a2d95ec5b50b7402ee1
    431 Nef56ff3a3ef54f6caff560d2c1c647f2 rdf:first sg:person.01143574046.62
    432 rdf:rest N7a59227ab5474a5c8dd77fc8591cc8c9
    433 Neffa5ad2fd9549499c5e906887995791 rdf:first sg:person.01054062254.31
    434 rdf:rest N6e4207d03f02476c8ed183298f19b86e
    435 Nf30a39ea8098455d9ab1c82fa87ebed6 rdf:first sg:person.01103656413.80
    436 rdf:rest N27c1ba35bc434f25bf7b8ea741dbe4ae
    437 Nf41a3c976bd94a2d95ec5b50b7402ee1 rdf:first N351c2e18a82941fd8ada602c8d7f08c5
    438 rdf:rest N6b7f6c22f0d04222acf2ce0f2451e645
    439 Nf44093a92618469a83c35380bad36814 rdf:first sg:person.0737022000.63
    440 rdf:rest Ne241414837004494a2f9bc0892cc906c
    441 Nf7999b0203dd48c28b21e189e4f60c8b rdf:first N8fe0f84f22cf4ded8e3f131a3ec2518e
    442 rdf:rest N8b9d321bc987412080b987464b75ec31
    443 Nfad4c7e9ff9848ed99383cebf1a6de9a schema:affiliation https://www.grid.ac/institutes/grid.5596.f
    444 schema:familyName Dahan
    445 schema:givenName Karin
    446 rdf:type schema:Person
    447 Nfc0cb139dec04f78a9f723113a0ba188 schema:affiliation N579efc8366d64904a882e543a0859c6b
    448 schema:familyName Kilic
    449 schema:givenName Esra
    450 rdf:type schema:Person
    451 Nfd81d36d75e54456a21ef1543253458e schema:affiliation https://www.grid.ac/institutes/grid.5596.f
    452 schema:familyName Lederer
    453 schema:givenName Damien
    454 rdf:type schema:Person
    455 Nfe8fad7099bf4669b40db66ee38212bd rdf:first sg:person.01277676373.34
    456 rdf:rest Na41f5089b8e2480c9f8c702fc46cc26a
    457 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    458 schema:name Biological Sciences
    459 rdf:type schema:DefinedTerm
    460 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    461 schema:name Genetics
    462 rdf:type schema:DefinedTerm
    463 sg:journal.1119411 schema:issn 1098-3600
    464 1530-0366
    465 schema:name Genetics in Medicine
    466 rdf:type schema:Periodical
    467 sg:person.01014634457.02 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    468 schema:familyName van Haeringen
    469 schema:givenName Arie
    470 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014634457.02
    471 rdf:type schema:Person
    472 sg:person.01021436327.00 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
    473 schema:familyName Chung
    474 schema:givenName Brain H. Y.
    475 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021436327.00
    476 rdf:type schema:Person
    477 sg:person.01026716422.64 schema:affiliation https://www.grid.ac/institutes/grid.15876.3d
    478 schema:familyName Kayserili
    479 schema:givenName Hülya
    480 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64
    481 rdf:type schema:Person
    482 sg:person.01034163176.94 schema:affiliation https://www.grid.ac/institutes/grid.414603.4
    483 schema:familyName Baban
    484 schema:givenName Anwar
    485 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01034163176.94
    486 rdf:type schema:Person
    487 sg:person.01037035230.75 schema:affiliation https://www.grid.ac/institutes/grid.413923.e
    488 schema:familyName Chrzanowska
    489 schema:givenName Krystyna
    490 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037035230.75
    491 rdf:type schema:Person
    492 sg:person.01054062254.31 schema:affiliation https://www.grid.ac/institutes/grid.416523.7
    493 schema:familyName Clayton-Smith
    494 schema:givenName Jill
    495 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01054062254.31
    496 rdf:type schema:Person
    497 sg:person.01065703565.84 schema:affiliation https://www.grid.ac/institutes/grid.4494.d
    498 schema:familyName Herkert
    499 schema:givenName Johanna C.
    500 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065703565.84
    501 rdf:type schema:Person
    502 sg:person.01103656413.80 schema:affiliation https://www.grid.ac/institutes/grid.5596.f
    503 schema:familyName Maystadt
    504 schema:givenName Isabelle
    505 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103656413.80
    506 rdf:type schema:Person
    507 sg:person.01116155067.36 schema:affiliation https://www.grid.ac/institutes/grid.8767.e
    508 schema:familyName De Rademaeker
    509 schema:givenName Marjan
    510 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116155067.36
    511 rdf:type schema:Person
    512 sg:person.01116326257.95 schema:affiliation https://www.grid.ac/institutes/grid.4494.d
    513 schema:familyName Veenstra-Knol
    514 schema:givenName Hermine E.
    515 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116326257.95
    516 rdf:type schema:Person
    517 sg:person.01117331017.35 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
    518 schema:familyName Utine
    519 schema:givenName G. Eda
    520 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117331017.35
    521 rdf:type schema:Person
    522 sg:person.01135743615.15 schema:affiliation https://www.grid.ac/institutes/grid.411232.7
    523 schema:familyName Gener
    524 schema:givenName Blanca
    525 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135743615.15
    526 rdf:type schema:Person
    527 sg:person.011432337602.83 schema:affiliation https://www.grid.ac/institutes/grid.415564.7
    528 schema:familyName Pottinger
    529 schema:givenName Caroline
    530 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011432337602.83
    531 rdf:type schema:Person
    532 sg:person.01143574046.62 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
    533 schema:familyName Simsek-Kiper
    534 schema:givenName Pelin O.
    535 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143574046.62
    536 rdf:type schema:Person
    537 sg:person.01144740436.84 schema:affiliation https://www.grid.ac/institutes/grid.411097.a
    538 schema:familyName Riehmer
    539 schema:givenName Vera
    540 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144740436.84
    541 rdf:type schema:Person
    542 sg:person.01150412261.48 schema:affiliation https://www.grid.ac/institutes/grid.10417.33
    543 schema:familyName van der Burgt
    544 schema:givenName Ineke
    545 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150412261.48
    546 rdf:type schema:Person
    547 sg:person.01157067411.76 schema:affiliation https://www.grid.ac/institutes/grid.411117.3
    548 schema:familyName Alanay
    549 schema:givenName Yasemin
    550 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157067411.76
    551 rdf:type schema:Person
    552 sg:person.01162000360.51 schema:affiliation https://www.grid.ac/institutes/grid.14848.31
    553 schema:familyName Campeau
    554 schema:givenName Philippe M.
    555 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162000360.51
    556 rdf:type schema:Person
    557 sg:person.01165726761.66 schema:affiliation N9653bd0f8f3d476e8f8286825311570c
    558 schema:familyName Pfundt
    559 schema:givenName Rolph
    560 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165726761.66
    561 rdf:type schema:Person
    562 sg:person.01174302323.23 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
    563 schema:familyName Rooryck
    564 schema:givenName Caroline
    565 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174302323.23
    566 rdf:type schema:Person
    567 sg:person.01177442511.60 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
    568 schema:familyName Mehta
    569 schema:givenName Sarju
    570 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177442511.60
    571 rdf:type schema:Person
    572 sg:person.01200077154.54 schema:affiliation https://www.grid.ac/institutes/grid.412855.f
    573 schema:familyName AlKindy
    574 schema:givenName Adila
    575 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200077154.54
    576 rdf:type schema:Person
    577 sg:person.012033776647.78 schema:affiliation https://www.grid.ac/institutes/grid.412966.e
    578 schema:familyName Stumpel
    579 schema:givenName Constance T. R. M.
    580 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012033776647.78
    581 rdf:type schema:Person
    582 sg:person.01204327114.64 schema:affiliation https://www.grid.ac/institutes/grid.414711.6
    583 schema:familyName Bok
    584 schema:givenName Levinus A.
    585 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204327114.64
    586 rdf:type schema:Person
    587 sg:person.01207267334.99 schema:affiliation https://www.grid.ac/institutes/grid.416166.2
    588 schema:familyName Roifman
    589 schema:givenName Maian
    590 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207267334.99
    591 rdf:type schema:Person
    592 sg:person.01207307261.14 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    593 schema:familyName Santen
    594 schema:givenName Gijs W. E.
    595 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207307261.14
    596 rdf:type schema:Person
    597 sg:person.01210254046.02 schema:affiliation https://www.grid.ac/institutes/grid.411097.a
    598 schema:familyName Netzer
    599 schema:givenName Christian
    600 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210254046.02
    601 rdf:type schema:Person
    602 sg:person.01210425021.96 schema:affiliation N68a207a6ecde45b2b8c6e8043f2ee15d
    603 schema:familyName Oehl-Jaschkowitz
    604 schema:givenName Barbara
    605 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210425021.96
    606 rdf:type schema:Person
    607 sg:person.012154573025.84 schema:affiliation https://www.grid.ac/institutes/grid.416568.8
    608 schema:familyName Gardham
    609 schema:givenName Alice
    610 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012154573025.84
    611 rdf:type schema:Person
    612 sg:person.01226105057.13 schema:affiliation https://www.grid.ac/institutes/grid.411154.4
    613 schema:familyName Pasquier
    614 schema:givenName Laurent
    615 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226105057.13
    616 rdf:type schema:Person
    617 sg:person.01230712171.13 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    618 schema:familyName Ruivenkamp
    619 schema:givenName Claudia A. L.
    620 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230712171.13
    621 rdf:type schema:Person
    622 sg:person.012320241437.02 schema:affiliation https://www.grid.ac/institutes/grid.411289.7
    623 schema:familyName Calvo
    624 schema:givenName Amparo Sanchis
    625 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012320241437.02
    626 rdf:type schema:Person
    627 sg:person.01237765320.71 schema:affiliation https://www.grid.ac/institutes/grid.412966.e
    628 schema:familyName Sallevelt
    629 schema:givenName Suzanne C. E. H.
    630 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237765320.71
    631 rdf:type schema:Person
    632 sg:person.012411712222.48 schema:affiliation https://www.grid.ac/institutes/grid.477604.6
    633 schema:familyName Brouwer
    634 schema:givenName Alwin F. J.
    635 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012411712222.48
    636 rdf:type schema:Person
    637 sg:person.01243511530.45 schema:affiliation N621d253798444f2b93d8602372d544e9
    638 schema:familyName de Vries
    639 schema:givenName Bert B. A.
    640 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243511530.45
    641 rdf:type schema:Person
    642 sg:person.01252207674.28 schema:affiliation https://www.grid.ac/institutes/grid.430503.1
    643 schema:familyName Elias
    644 schema:givenName Ellen R.
    645 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252207674.28
    646 rdf:type schema:Person
    647 sg:person.01255657033.26 schema:affiliation https://www.grid.ac/institutes/grid.414165.3
    648 schema:familyName Vergano
    649 schema:givenName Samantha A.
    650 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255657033.26
    651 rdf:type schema:Person
    652 sg:person.01255720454.59 schema:affiliation N017ae7405af1464fb5adc89d34b63ac0
    653 schema:familyName Venkateswaran
    654 schema:givenName Sunita
    655 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255720454.59
    656 rdf:type schema:Person
    657 sg:person.01256037226.29 schema:affiliation https://www.grid.ac/institutes/grid.411984.1
    658 schema:familyName Wollnik
    659 schema:givenName Bernd
    660 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256037226.29
    661 rdf:type schema:Person
    662 sg:person.01272603247.05 schema:affiliation https://www.grid.ac/institutes/grid.411372.2
    663 schema:familyName López-González
    664 schema:givenName Vanesa
    665 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272603247.05
    666 rdf:type schema:Person
    667 sg:person.01274666201.22 schema:affiliation https://www.grid.ac/institutes/grid.7143.1
    668 schema:familyName Laulund
    669 schema:givenName Lone W.
    670 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274666201.22
    671 rdf:type schema:Person
    672 sg:person.01277676373.34 schema:affiliation https://www.grid.ac/institutes/grid.4989.c
    673 schema:familyName Vilain
    674 schema:givenName Catheline
    675 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277676373.34
    676 rdf:type schema:Person
    677 sg:person.01300670057.34 schema:affiliation https://www.grid.ac/institutes/grid.4494.d
    678 schema:familyName Gerkes
    679 schema:givenName Erica H.
    680 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300670057.34
    681 rdf:type schema:Person
    682 sg:person.01300736575.26 schema:affiliation https://www.grid.ac/institutes/grid.411544.1
    683 schema:familyName Grasshoff
    684 schema:givenName Ute
    685 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300736575.26
    686 rdf:type schema:Person
    687 sg:person.01302357456.06 schema:affiliation https://www.grid.ac/institutes/grid.7143.1
    688 schema:familyName Fagerberg
    689 schema:givenName Christina
    690 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302357456.06
    691 rdf:type schema:Person
    692 sg:person.01310017365.24 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    693 schema:familyName Bijlsma
    694 schema:givenName Emilia K.
    695 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310017365.24
    696 rdf:type schema:Person
    697 sg:person.01324340574.51 schema:affiliation Nd8d173cf8e4141ecb35c042e47082a75
    698 schema:familyName Maas
    699 schema:givenName Saskia
    700 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324340574.51
    701 rdf:type schema:Person
    702 sg:person.013305075124.72 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    703 schema:familyName van der Sluijs
    704 schema:givenName Eline
    705 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013305075124.72
    706 rdf:type schema:Person
    707 sg:person.013650715570.44 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    708 schema:familyName Ropers
    709 schema:givenName Fabienne G.
    710 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013650715570.44
    711 rdf:type schema:Person
    712 sg:person.014211302264.67 schema:affiliation https://www.grid.ac/institutes/grid.412966.e
    713 schema:familyName Stegmann
    714 schema:givenName Alexander P. A.
    715 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014211302264.67
    716 rdf:type schema:Person
    717 sg:person.014213230601.99 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    718 schema:familyName Hollander
    719 schema:givenName Nicolette S. den
    720 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014213230601.99
    721 rdf:type schema:Person
    722 sg:person.015156762157.67 schema:affiliation N17b23f1dae514dfd8c4e19aa6b52f466
    723 schema:familyName Uctepe
    724 schema:givenName Eyyup
    725 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015156762157.67
    726 rdf:type schema:Person
    727 sg:person.015406441444.08 schema:affiliation Ne41b8e1c4b7b4cb092abb7f54737d58b
    728 schema:familyName Marcelis
    729 schema:givenName Carlo
    730 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015406441444.08
    731 rdf:type schema:Person
    732 sg:person.016310104147.40 schema:affiliation N27f8c97828e74ed8905d1f8a76c05a40
    733 schema:familyName Silfhout
    734 schema:givenName Anneke T. Vulto-van
    735 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016310104147.40
    736 rdf:type schema:Person
    737 sg:person.0606024306.21 schema:affiliation N5f86128121ec40b686ac170174b3b9fc
    738 schema:familyName Dudding-Byth
    739 schema:givenName Tracy
    740 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606024306.21
    741 rdf:type schema:Person
    742 sg:person.0620272120.11 schema:affiliation https://www.grid.ac/institutes/grid.254880.3
    743 schema:familyName Moeschler
    744 schema:givenName John B.
    745 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620272120.11
    746 rdf:type schema:Person
    747 sg:person.0641724363.18 schema:affiliation https://www.grid.ac/institutes/grid.416523.7
    748 schema:familyName Metcalfe
    749 schema:givenName Kay
    750 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641724363.18
    751 rdf:type schema:Person
    752 sg:person.0642615705.35 schema:affiliation https://www.grid.ac/institutes/grid.418340.a
    753 schema:familyName Soares
    754 schema:givenName Gabriela
    755 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642615705.35
    756 rdf:type schema:Person
    757 sg:person.0644306630.27 schema:affiliation https://www.grid.ac/institutes/grid.411544.1
    758 schema:familyName Beck-Wödl
    759 schema:givenName Stefanie
    760 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644306630.27
    761 rdf:type schema:Person
    762 sg:person.0664320517.25 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    763 schema:familyName Steenbeek
    764 schema:givenName Duco
    765 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664320517.25
    766 rdf:type schema:Person
    767 sg:person.0670142627.69 schema:affiliation https://www.grid.ac/institutes/grid.410836.8
    768 schema:familyName Mizuno
    769 schema:givenName Seiji
    770 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670142627.69
    771 rdf:type schema:Person
    772 sg:person.0701712537.00 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
    773 schema:familyName Kant
    774 schema:givenName Sarina G.
    775 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701712537.00
    776 rdf:type schema:Person
    777 sg:person.0705101106.89 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
    778 schema:familyName Eichler
    779 schema:givenName Evan
    780 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
    781 rdf:type schema:Person
    782 sg:person.0706337710.19 schema:affiliation N42bbf859ffc8413eb624794ba95db5ab
    783 schema:familyName Sagiroglu
    784 schema:givenName Mahmut S.
    785 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706337710.19
    786 rdf:type schema:Person
    787 sg:person.0711772123.60 schema:affiliation https://www.grid.ac/institutes/grid.415996.6
    788 schema:familyName Canham
    789 schema:givenName Natalie
    790 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711772123.60
    791 rdf:type schema:Person
    792 sg:person.0715220567.52 schema:affiliation N9df27cad5e8447818c24d83c34a6a988
    793 schema:familyName Ockeloen
    794 schema:givenName Charlotte W.
    795 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715220567.52
    796 rdf:type schema:Person
    797 sg:person.0731074614.93 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
    798 schema:familyName Chu
    799 schema:givenName Yoyo W. Y.
    800 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731074614.93
    801 rdf:type schema:Person
    802 sg:person.0735167013.01 schema:affiliation https://www.grid.ac/institutes/grid.84393.35
    803 schema:familyName Rosello
    804 schema:givenName Monica
    805 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0735167013.01
    806 rdf:type schema:Person
    807 sg:person.0737022000.63 schema:affiliation https://www.grid.ac/institutes/grid.31564.35
    808 schema:familyName Sonmez
    809 schema:givenName Fatma Mujgan
    810 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737022000.63
    811 rdf:type schema:Person
    812 sg:person.0742621315.00 schema:affiliation https://www.grid.ac/institutes/grid.412568.c
    813 schema:familyName Kosho
    814 schema:givenName Tomoki
    815 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742621315.00
    816 rdf:type schema:Person
    817 sg:person.07440063657.55 schema:affiliation https://www.grid.ac/institutes/grid.411905.8
    818 schema:familyName Bayat
    819 schema:givenName Allan
    820 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07440063657.55
    821 rdf:type schema:Person
    822 sg:person.07560340507.07 schema:affiliation N32654a121c8e48cda6f52092972ac362
    823 schema:familyName Okamoto
    824 schema:givenName Nobuhiko
    825 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07560340507.07
    826 rdf:type schema:Person
    827 sg:person.0763434202.94 schema:affiliation https://www.grid.ac/institutes/grid.416135.4
    828 schema:familyName Kersseboom
    829 schema:givenName Rogier
    830 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763434202.94
    831 rdf:type schema:Person
    832 sg:person.077025745.17 schema:affiliation https://www.grid.ac/institutes/grid.413923.e
    833 schema:familyName Krajewska-Walasek
    834 schema:givenName Malgorzata
    835 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.077025745.17
    836 rdf:type schema:Person
    837 sg:person.0771377770.22 schema:affiliation N6502ff849fd143e4baf8536890c54b51
    838 schema:familyName Jansen
    839 schema:givenName Sandra
    840 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771377770.22
    841 rdf:type schema:Person
    842 sg:pub.10.1038/ejhg.2011.24 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050012197
    843 https://doi.org/10.1038/ejhg.2011.24
    844 rdf:type schema:CreativeWork
    845 sg:pub.10.1038/ejhg.2014.25 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042647048
    846 https://doi.org/10.1038/ejhg.2014.25
    847 rdf:type schema:CreativeWork
    848 sg:pub.10.1038/ejhg.2016.146 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013046396
    849 https://doi.org/10.1038/ejhg.2016.146
    850 rdf:type schema:CreativeWork
    851 sg:pub.10.1038/gim.2012.164 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045189328
    852 https://doi.org/10.1038/gim.2012.164
    853 rdf:type schema:CreativeWork
    854 sg:pub.10.1038/nature14135 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007784461
    855 https://doi.org/10.1038/nature14135
    856 rdf:type schema:CreativeWork
    857 sg:pub.10.1038/ng.2217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018858352
    858 https://doi.org/10.1038/ng.2217
    859 rdf:type schema:CreativeWork
    860 sg:pub.10.1038/ng.2219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003601545
    861 https://doi.org/10.1038/ng.2219
    862 rdf:type schema:CreativeWork
    863 sg:pub.10.1186/1471-2431-13-59 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041140038
    864 https://doi.org/10.1186/1471-2431-13-59
    865 rdf:type schema:CreativeWork
    866 sg:pub.10.1186/1750-1172-9-43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017707295
    867 https://doi.org/10.1186/1750-1172-9-43
    868 rdf:type schema:CreativeWork
    869 sg:pub.10.1186/s12864-015-1898-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007987431
    870 https://doi.org/10.1186/s12864-015-1898-1
    871 rdf:type schema:CreativeWork
    872 sg:pub.10.1186/s12864-017-3671-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085558876
    873 https://doi.org/10.1186/s12864-017-3671-0
    874 rdf:type schema:CreativeWork
    875 https://doi.org/10.1002/ajmg.a.32111 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052869618
    876 rdf:type schema:CreativeWork
    877 https://doi.org/10.1002/ajmg.a.36515 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011190511
    878 rdf:type schema:CreativeWork
    879 https://doi.org/10.1002/ajmg.a.36738 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001520310
    880 rdf:type schema:CreativeWork
    881 https://doi.org/10.1002/ajmg.a.37405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026014668
    882 rdf:type schema:CreativeWork
    883 https://doi.org/10.1002/ajmg.a.37861 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000336479
    884 rdf:type schema:CreativeWork
    885 https://doi.org/10.1002/ajmg.a.37945 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014978626
    886 rdf:type schema:CreativeWork
    887 https://doi.org/10.1002/ajmg.a.38143 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084007788
    888 rdf:type schema:CreativeWork
    889 https://doi.org/10.1002/ajmg.a.38327 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090573180
    890 rdf:type schema:CreativeWork
    891 https://doi.org/10.1002/ajmg.c.31410 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044828455
    892 rdf:type schema:CreativeWork
    893 https://doi.org/10.1002/ajmg.c.31414 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022286266
    894 rdf:type schema:CreativeWork
    895 https://doi.org/10.1002/ajmg.c.31416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012855528
    896 rdf:type schema:CreativeWork
    897 https://doi.org/10.1002/humu.22347 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044142673
    898 rdf:type schema:CreativeWork
    899 https://doi.org/10.1002/humu.22394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013147490
    900 rdf:type schema:CreativeWork
    901 https://doi.org/10.1016/j.ajhg.2009.03.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048795148
    902 rdf:type schema:CreativeWork
    903 https://doi.org/10.1016/j.ajhg.2012.02.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024780233
    904 rdf:type schema:CreativeWork
    905 https://doi.org/10.1016/j.ajhg.2015.04.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018695490
    906 rdf:type schema:CreativeWork
    907 https://doi.org/10.1016/j.braindev.2014.08.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039505357
    908 rdf:type schema:CreativeWork
    909 https://doi.org/10.1016/s0140-6736(14)61705-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028405230
    910 rdf:type schema:CreativeWork
    911 https://doi.org/10.1093/brain/aww181 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059445199
    912 rdf:type schema:CreativeWork
    913 https://doi.org/10.1093/hmg/ddt366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049566815
    914 rdf:type schema:CreativeWork
    915 https://doi.org/10.1111/cge.12225 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043542575
    916 rdf:type schema:CreativeWork
    917 https://doi.org/10.1111/j.1399-0004.2011.01755.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1009355112
    918 rdf:type schema:CreativeWork
    919 https://doi.org/10.1159/000321577 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022675077
    920 rdf:type schema:CreativeWork
    921 https://doi.org/10.3390/cells5040045 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033867270
    922 rdf:type schema:CreativeWork
    923 https://doi.org/10.4008/jcrpe.v1i3.53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002152758
    924 rdf:type schema:CreativeWork
    925 https://doi.org/10.5582/irdr.2014.01021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009767314
    926 rdf:type schema:CreativeWork
    927 https://doi.org/10.5582/irdr.2014.01040 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032244401
    928 rdf:type schema:CreativeWork
    929 https://doi.org/10.7554/elife.25730 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090619104
    930 rdf:type schema:CreativeWork
    931 https://www.grid.ac/institutes/grid.10417.33 schema:alternateName Radboud University Nijmegen Medical Centre
    932 schema:name Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
    933 rdf:type schema:Organization
    934 https://www.grid.ac/institutes/grid.10419.3d schema:alternateName Leiden University Medical Center
    935 schema:name Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    936 Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    937 Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands
    938 Willem Alexander Children’s Hospital, Leiden University Medical Center, Leiden, The Netherlands
    939 rdf:type schema:Organization
    940 https://www.grid.ac/institutes/grid.120073.7 schema:alternateName Addenbrooke's Hospital
    941 schema:name East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, United Kingdom
    942 rdf:type schema:Organization
    943 https://www.grid.ac/institutes/grid.14442.37 schema:alternateName Hacettepe University
    944 schema:name Department of Pediatric Genetics, Ihsan Dogramaci Children’s Hospital, Hacettepe University School of Medicine, Ankara, Turkey
    945 rdf:type schema:Organization
    946 https://www.grid.ac/institutes/grid.14848.31 schema:alternateName University of Montreal
    947 schema:name Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada
    948 rdf:type schema:Organization
    949 https://www.grid.ac/institutes/grid.15876.3d schema:alternateName Koç University
    950 schema:name Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey
    951 rdf:type schema:Organization
    952 https://www.grid.ac/institutes/grid.194645.b schema:alternateName University of Hong Kong
    953 schema:name Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China
    954 rdf:type schema:Organization
    955 https://www.grid.ac/institutes/grid.254880.3 schema:alternateName Dartmouth College
    956 schema:name Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA
    957 rdf:type schema:Organization
    958 https://www.grid.ac/institutes/grid.29980.3a schema:alternateName University of Otago
    959 schema:name Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
    960 rdf:type schema:Organization
    961 https://www.grid.ac/institutes/grid.31564.35 schema:alternateName Karadeniz Technical University
    962