New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-02-20

AUTHORS

Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, DDD Study, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge

ABSTRACT

GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma. Four missense variants of unknown or unlikely clinical significance were also identified. Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. However, the exact genotype–phenotype correlation of these structural variants remains to be established. Our data expand the spectrum of GJA8 variants and associated phenotypes, confirming the importance of this gene in early eye development. More... »

PAGES

1027-1042

References to SciGraph publications

  • 2014-11-18. Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract in HUMAN GENOMICS
  • 2008-11-23. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities in NATURE GENETICS
  • 2016-08-17. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2012-02-08. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-05-24. Connexinopathies: a structural and functional glimpse in BMC MOLECULAR AND CELL BIOLOGY
  • 2015-06-11. Clinical phenotype of the recurrent 1q21.1 copy-number variant in GENETICS IN MEDICINE
  • 2016-05-24. Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts in SCIENTIFIC REPORTS
  • 2016-02-25. CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts in SCIENTIFIC REPORTS
  • 2016-09-29. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability in MOLECULAR CYTOGENETICS
  • 2015-09-30. A global reference for human genetic variation in NATURE
  • 2009-06-25. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm in NATURE PROTOCOLS
  • 2008-09. Large recurrent microdeletions associated with schizophrenia in NATURE
  • 2017-03-03. Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities—an analysis of CRISPR genome-edited mouse embryos in SCIENTIFIC REPORTS
  • 2010-04. A method and server for predicting damaging missense mutations in NATURE METHODS
  • 2016-11-14. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders in HUMAN GENETICS
  • 2006. New Methods for Detecting Lineage-Specific Selection in RESEARCH IN COMPUTATIONAL MOLECULAR BIOLOGY
  • 2013-11-27. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal

    TITLE

    Human Genetics

    ISSUE

    8-9

    VOLUME

    138

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-018-1875-2

    DOI

    http://dx.doi.org/10.1007/s00439-018-1875-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1101110918

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29464339


    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/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1113", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Ophthalmology and Optometry", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cataract", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cohort Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Connexins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Eye Abnormalities", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Eye Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gap Junctions", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Association Studies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Heterozygote", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Lens, Crystalline", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation, Missense", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.7628.b", 
              "name": [
                "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ceroni", 
            "givenName": "Fabiola", 
            "id": "sg:person.01135032140.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135032140.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Aguilera-Garcia", 
            "givenName": "Domingo", 
            "id": "sg:person.015461504620.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015461504620.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UMR 1056 Inserm, Universit\u00e9 de Toulouse, Toulouse, France", 
              "id": "http://www.grid.ac/institutes/grid.508721.9", 
              "name": [
                "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan, CHU Toulouse, Toulouse, France", 
                "UMR 1056 Inserm, Universit\u00e9 de Toulouse, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chassaing", 
            "givenName": "Nicolas", 
            "id": "sg:person.01073156264.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073156264.33"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.7628.b", 
              "name": [
                "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bax", 
            "givenName": "Dorine Arjanne", 
            "id": "sg:person.0720267753.88", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0720267753.88"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Ophthalmology, University College London, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.83440.3b", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
                "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK", 
                "Institute of Ophthalmology, University College London, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Blanco-Kelly", 
            "givenName": "Fiona", 
            "id": "sg:person.01023101212.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023101212.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ramos", 
            "givenName": "Patricia", 
            "id": "sg:person.011146755020.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011146755020.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tarilonte", 
            "givenName": "Maria", 
            "id": "sg:person.011744335420.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011744335420.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Villaverde", 
            "givenName": "Cristina", 
            "id": "sg:person.0617700151.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617700151.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "da Silva", 
            "givenName": "Luciana Rodrigues Jacy", 
            "id": "sg:person.014605502722.47", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014605502722.47"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain", 
              "id": "http://www.grid.ac/institutes/grid.411372.2", 
              "name": [
                "Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ballesta-Mart\u00ednez", 
            "givenName": "Maria Juliana", 
            "id": "sg:person.01014724335.74", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014724335.74"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain", 
              "id": "http://www.grid.ac/institutes/grid.411372.2", 
              "name": [
                "Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sanchez-Soler", 
            "givenName": "Maria Jose", 
            "id": "sg:person.01150600711.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150600711.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.7628.b", 
              "name": [
                "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Holt", 
            "givenName": "Richard James", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cooper-Charles", 
            "givenName": "Lisa", 
            "id": "sg:person.01103277757.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103277757.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bruty", 
            "givenName": "Jonathan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wallis", 
            "givenName": "Yvonne", 
            "id": "sg:person.0764105223.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764105223.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McMullan", 
            "givenName": "Dominic", 
            "id": "sg:person.0602751265.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602751265.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hoffman", 
            "givenName": "Jonathan", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK", 
              "id": "http://www.grid.ac/institutes/grid.433814.9", 
              "name": [
                "Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bunyan", 
            "givenName": "David", 
            "id": "sg:person.01216456541.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216456541.35"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sheffield Clinical Genetics Department, Northern General Hospital, Sheffield, UK", 
              "id": "http://www.grid.ac/institutes/grid.412937.a", 
              "name": [
                "Sheffield Clinical Genetics Department, Northern General Hospital, Sheffield, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stewart", 
            "givenName": "Alison", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK", 
              "id": "http://www.grid.ac/institutes/grid.410556.3", 
              "name": [
                "Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stewart", 
            "givenName": "Helen", 
            "id": "sg:person.01303675721.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303675721.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Human Genetics and Genomic Medicine, Southampton General Hospital, University of Southampton, Southampton, UK", 
              "id": "http://www.grid.ac/institutes/grid.123047.3", 
              "name": [
                "Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK", 
                "Human Genetics and Genomic Medicine, Southampton General Hospital, University of Southampton, Southampton, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lachlan", 
            "givenName": "Katherine", 
            "id": "sg:person.01252036154.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252036154.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK", 
              "id": "http://www.grid.ac/institutes/grid.10306.34", 
              "name": [
                "Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "DDD Study", 
            "id": "sg:person.015023505633.88", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015023505633.88"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cheshire and Merseyside Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool, UK", 
              "id": "http://www.grid.ac/institutes/grid.419317.9", 
              "name": [
                "Cheshire and Merseyside Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fryer", 
            "givenName": "Alan", 
            "id": "sg:person.01162625403.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162625403.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Cheshire and Merseyside Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool, UK", 
              "id": "http://www.grid.ac/institutes/grid.419317.9", 
              "name": [
                "Cheshire and Merseyside Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "McKay", 
            "givenName": "Victoria", 
            "id": "sg:person.0742172615.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742172615.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Clinical Genetics, Centre de R\u00e9f\u00e9rence \u201cAnDDI Rares\u201d, Poissy Hospital GHU PIFO, Poissy, France", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Department of Clinical Genetics, Centre de R\u00e9f\u00e9rence \u201cAnDDI Rares\u201d, Poissy Hospital GHU PIFO, Poissy, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Roume", 
            "givenName": "Jo\u00eblle", 
            "id": "sg:person.01365722134.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365722134.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France", 
              "id": "http://www.grid.ac/institutes/grid.417888.a", 
              "name": [
                "Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dureau", 
            "givenName": "Pascal", 
            "id": "sg:person.01252750357.28", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252750357.28"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics Unit, St Georges University of London, London, UK", 
              "id": "http://www.grid.ac/institutes/grid.264200.2", 
              "name": [
                "Clinical Genetics Unit, St Georges University of London, London, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Saggar", 
            "givenName": "Anand", 
            "id": "sg:person.01163567632.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163567632.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Griffiths", 
            "givenName": "Michael", 
            "id": "sg:person.07406041552.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07406041552.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "UMR 1056 Inserm, Universit\u00e9 de Toulouse, Toulouse, France", 
              "id": "http://www.grid.ac/institutes/grid.508721.9", 
              "name": [
                "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan, CHU Toulouse, Toulouse, France", 
                "UMR 1056 Inserm, Universit\u00e9 de Toulouse, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Calvas", 
            "givenName": "Patrick", 
            "id": "sg:person.0742121100.01", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742121100.01"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ayuso", 
            "givenName": "Carmen", 
            "id": "sg:person.01225211327.95", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225211327.95"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413448.e", 
              "name": [
                "Genetics Service, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid, Spain", 
                "Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Corton", 
            "givenName": "Marta", 
            "id": "sg:person.0624127624.23", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624127624.23"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK", 
              "id": "http://www.grid.ac/institutes/grid.498025.2", 
              "name": [
                "Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK", 
                "West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ragge", 
            "givenName": "Nicola K", 
            "id": "sg:person.01152731344.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152731344.29"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng.279", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016615098", 
              "https://doi.org/10.1038/ng.279"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep22024", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000359208", 
              "https://doi.org/10.1038/srep22024"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/11732990_17", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003499206", 
              "https://doi.org/10.1007/11732990_17"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021812064", 
              "https://doi.org/10.1038/nature15393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13039-016-0286-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037775138", 
              "https://doi.org/10.1186/s13039-016-0286-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2013.268", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050392301", 
              "https://doi.org/10.1038/ejhg.2013.268"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2012.6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032111256", 
              "https://doi.org/10.1038/ejhg.2012.6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2009.86", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015642657", 
              "https://doi.org/10.1038/nprot.2009.86"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/s41598-017-00088-w", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084130229", 
              "https://doi.org/10.1038/s41598-017-00088-w"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s40246-014-0019-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016391910", 
              "https://doi.org/10.1186/s40246-014-0019-6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07229", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038869319", 
              "https://doi.org/10.1038/nature07229"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth0410-248", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007489634", 
              "https://doi.org/10.1038/nmeth0410-248"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12860-016-0092-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000463234", 
              "https://doi.org/10.1186/s12860-016-0092-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-016-1745-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026281512", 
              "https://doi.org/10.1007/s00439-016-1745-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature19057", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022281897", 
              "https://doi.org/10.1038/nature19057"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep26551", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017330172", 
              "https://doi.org/10.1038/srep26551"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/gim.2015.78", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029791070", 
              "https://doi.org/10.1038/gim.2015.78"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-02-20", 
        "datePublishedReg": "2018-02-20", 
        "description": "GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma. Four missense variants of unknown or unlikely clinical significance were also identified. Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. However, the exact genotype\u2013phenotype correlation of these structural variants remains to be established. Our data expand the spectrum of GJA8 variants and associated phenotypes, confirming the importance of this gene in early eye development.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s00439-018-1875-2", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1085982", 
            "issn": [
              "0340-6717", 
              "1432-1203"
            ], 
            "name": "Human Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "8-9", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "138"
          }
        ], 
        "keywords": [
          "eye anomalies", 
          "congenital eye anomalies", 
          "novel likely pathogenic variant", 
          "likely pathogenic variants", 
          "unlikely clinical significance", 
          "early-onset cataracts", 
          "genotype-phenotype correlation", 
          "extraocular findings", 
          "ocular growth", 
          "congenital aphakia", 
          "clinical significance", 
          "animal models", 
          "onset cataract", 
          "variant p.", 
          "pathogenic variants", 
          "early eye development", 
          "coloboma", 
          "microphthalmia", 
          "missense variants", 
          "gap junctions", 
          "cataract", 
          "missense mutations", 
          "eye development", 
          "lens development", 
          "critical role", 
          "screening", 
          "lens gap junctions", 
          "GJA8 mutation", 
          "broad spectrum", 
          "individuals", 
          "phenotype", 
          "aphakia", 
          "sclerocornea", 
          "cohort", 
          "variants", 
          "mice", 
          "anophthalmia", 
          "mutations", 
          "connexin 50", 
          "subgroups", 
          "GJA8", 
          "microdeletion", 
          "transmembrane protein", 
          "role", 
          "structural variants", 
          "humans", 
          "findings", 
          "anomalies", 
          "family", 
          "p.", 
          "development", 
          "significance", 
          "deletion", 
          "protein", 
          "genes", 
          "correlation", 
          "junction", 
          "lenses", 
          "small lenses", 
          "addition", 
          "data", 
          "importance", 
          "growth", 
          "formation", 
          "model", 
          "spectra", 
          "homozygous Gja8 deletions", 
          "Gja8 deletions", 
          "screening of GJA8", 
          "severe congenital eye anomalies", 
          "GJA8 structural variants", 
          "exact genotype\u2013phenotype correlation", 
          "GJA8 variants", 
          "New GJA8 variants"
        ], 
        "name": "New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies", 
        "pagination": "1027-1042", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1101110918"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00439-018-1875-2"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29464339"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00439-018-1875-2", 
          "https://app.dimensions.ai/details/publication/pub.1101110918"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:50", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_789.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s00439-018-1875-2"
      }
    ]
     

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

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00439-018-1875-2'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-018-1875-2'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-018-1875-2'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-018-1875-2'


     

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

    527 TRIPLES      22 PREDICATES      132 URIs      107 LITERALS      22 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00439-018-1875-2 schema:about N04f054cb4e3d4369bf3252dd212dceb0
    2 N25c2436869eb4de992be7be1a677b26d
    3 N2a826851e5244e4fb4885f780a960213
    4 N34b855b0ac6f4fc4922d28143c70c8e5
    5 N3510c18880794704a0b10d03e0973372
    6 N3c4956b5549b439cb2a67ed57ffd810c
    7 N7b3da09bffa64e3ba9447a59376c0c23
    8 N8d3bc21fc3ad421e957fec2177641ac1
    9 N93a5fa3946534defabbb4e60b430073f
    10 N94f8dde5cfbf470ba187383cf99762da
    11 Na710d597bf2642d4bf157991b810ff0d
    12 Nab71541d14604536b92ca20ac802f2d8
    13 Nc276c39c41ce4c0bbf3c59f36a7555ca
    14 Ne5f74ff6927146269e68f9ff9f26244d
    15 Nea6dd089189a484581bf6dbda65c7b03
    16 anzsrc-for:11
    17 anzsrc-for:1113
    18 schema:author Ne5f84203a25f4ecbaffd8dbe050d79d1
    19 schema:citation sg:pub.10.1007/11732990_17
    20 sg:pub.10.1007/s00439-016-1745-8
    21 sg:pub.10.1038/ejhg.2012.6
    22 sg:pub.10.1038/ejhg.2013.268
    23 sg:pub.10.1038/gim.2015.78
    24 sg:pub.10.1038/nature07229
    25 sg:pub.10.1038/nature15393
    26 sg:pub.10.1038/nature19057
    27 sg:pub.10.1038/ng.279
    28 sg:pub.10.1038/nmeth0410-248
    29 sg:pub.10.1038/nprot.2009.86
    30 sg:pub.10.1038/s41598-017-00088-w
    31 sg:pub.10.1038/srep22024
    32 sg:pub.10.1038/srep26551
    33 sg:pub.10.1186/s12860-016-0092-x
    34 sg:pub.10.1186/s13039-016-0286-0
    35 sg:pub.10.1186/s40246-014-0019-6
    36 schema:datePublished 2018-02-20
    37 schema:datePublishedReg 2018-02-20
    38 schema:description GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma. Four missense variants of unknown or unlikely clinical significance were also identified. Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. However, the exact genotype–phenotype correlation of these structural variants remains to be established. Our data expand the spectrum of GJA8 variants and associated phenotypes, confirming the importance of this gene in early eye development.
    39 schema:genre article
    40 schema:inLanguage en
    41 schema:isAccessibleForFree true
    42 schema:isPartOf N2b434d799f534355b0772307198d11cc
    43 Nb57694368f2e4753b8ad6acc0cb66cea
    44 sg:journal.1085982
    45 schema:keywords GJA8
    46 GJA8 mutation
    47 GJA8 structural variants
    48 GJA8 variants
    49 Gja8 deletions
    50 New GJA8 variants
    51 addition
    52 animal models
    53 anomalies
    54 anophthalmia
    55 aphakia
    56 broad spectrum
    57 cataract
    58 clinical significance
    59 cohort
    60 coloboma
    61 congenital aphakia
    62 congenital eye anomalies
    63 connexin 50
    64 correlation
    65 critical role
    66 data
    67 deletion
    68 development
    69 early eye development
    70 early-onset cataracts
    71 exact genotype–phenotype correlation
    72 extraocular findings
    73 eye anomalies
    74 eye development
    75 family
    76 findings
    77 formation
    78 gap junctions
    79 genes
    80 genotype-phenotype correlation
    81 growth
    82 homozygous Gja8 deletions
    83 humans
    84 importance
    85 individuals
    86 junction
    87 lens development
    88 lens gap junctions
    89 lenses
    90 likely pathogenic variants
    91 mice
    92 microdeletion
    93 microphthalmia
    94 missense mutations
    95 missense variants
    96 model
    97 mutations
    98 novel likely pathogenic variant
    99 ocular growth
    100 onset cataract
    101 p.
    102 pathogenic variants
    103 phenotype
    104 protein
    105 role
    106 sclerocornea
    107 screening
    108 screening of GJA8
    109 severe congenital eye anomalies
    110 significance
    111 small lenses
    112 spectra
    113 structural variants
    114 subgroups
    115 transmembrane protein
    116 unlikely clinical significance
    117 variant p.
    118 variants
    119 schema:name New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
    120 schema:pagination 1027-1042
    121 schema:productId N386a0fb095a044eea385a428f9c8b2ff
    122 Na30798d24b2f4251880adba2429fcd9e
    123 Nfdc8a02954424c1398772e831c788c46
    124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101110918
    125 https://doi.org/10.1007/s00439-018-1875-2
    126 schema:sdDatePublished 2022-01-01T18:50
    127 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    128 schema:sdPublisher Na57edd73ace645d29f01ff456b115169
    129 schema:url https://doi.org/10.1007/s00439-018-1875-2
    130 sgo:license sg:explorer/license/
    131 sgo:sdDataset articles
    132 rdf:type schema:ScholarlyArticle
    133 N04f054cb4e3d4369bf3252dd212dceb0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    134 schema:name Male
    135 rdf:type schema:DefinedTerm
    136 N0cde17542e204d6d8749d10b9a879194 rdf:first sg:person.01303675721.51
    137 rdf:rest Naf2dc79ae7224d1a9ea1a0dac7596d66
    138 N0e62cf2ff6ec431faa63ab8a433e55a4 rdf:first sg:person.01365722134.72
    139 rdf:rest N1b8e0f5ed10f40ea869b9a64a08d920a
    140 N0f8cf74bcb034749ab54ce5d25c6deef rdf:first Nf04840ddc7e0486ab3978e28ae5864ea
    141 rdf:rest Ncab487d35bc54fdcbf4f1ec3b661edfe
    142 N10cf49161cc542098f82ce3bd7984579 schema:affiliation grid-institutes:grid.412937.a
    143 schema:familyName Stewart
    144 schema:givenName Alison
    145 rdf:type schema:Person
    146 N1b8e0f5ed10f40ea869b9a64a08d920a rdf:first sg:person.01252750357.28
    147 rdf:rest Nce51c1920fe54030a4857ef7ead83fcb
    148 N25c2436869eb4de992be7be1a677b26d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    149 schema:name Lens, Crystalline
    150 rdf:type schema:DefinedTerm
    151 N2a826851e5244e4fb4885f780a960213 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    152 schema:name Gap Junctions
    153 rdf:type schema:DefinedTerm
    154 N2b434d799f534355b0772307198d11cc schema:volumeNumber 138
    155 rdf:type schema:PublicationVolume
    156 N2bb66c4c3e4f49e295f4fedf6e87ead2 rdf:first sg:person.014605502722.47
    157 rdf:rest N881a51629b1c43578cecbdf9b8bee676
    158 N34b855b0ac6f4fc4922d28143c70c8e5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    159 schema:name Pedigree
    160 rdf:type schema:DefinedTerm
    161 N34cf01cb39ca4984b8e62b0ac432b54f rdf:first sg:person.0742172615.05
    162 rdf:rest N0e62cf2ff6ec431faa63ab8a433e55a4
    163 N3510c18880794704a0b10d03e0973372 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    164 schema:name Female
    165 rdf:type schema:DefinedTerm
    166 N386a0fb095a044eea385a428f9c8b2ff schema:name doi
    167 schema:value 10.1007/s00439-018-1875-2
    168 rdf:type schema:PropertyValue
    169 N3c4956b5549b439cb2a67ed57ffd810c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Mutation, Missense
    171 rdf:type schema:DefinedTerm
    172 N3d00a2ce059e45b2a7d12604007e63ce rdf:first N89c5fd6adedc40b192f431da4100900d
    173 rdf:rest N75b1ae1b8587494493d5116d9119ff62
    174 N4b87f6ebd1a14862ab8f86f243e4c9f5 rdf:first sg:person.0720267753.88
    175 rdf:rest Ne54dc55b3d14426b818b76039660c107
    176 N532267fc30f344009ed11e6ac984ecd0 rdf:first sg:person.0602751265.13
    177 rdf:rest N3d00a2ce059e45b2a7d12604007e63ce
    178 N5492794b60a24d70a04c49e04ceae988 rdf:first N10cf49161cc542098f82ce3bd7984579
    179 rdf:rest N0cde17542e204d6d8749d10b9a879194
    180 N57fed4ace360483da13df59fdc4a9af2 rdf:first sg:person.01150600711.51
    181 rdf:rest Nac958481d1cc415ead9d49498f9b059c
    182 N6f2d4b74bdbe4ec5bdfaa5459575f19d rdf:first sg:person.011744335420.23
    183 rdf:rest N9524cb278da74ec5ba9c425f157f11e6
    184 N75b1ae1b8587494493d5116d9119ff62 rdf:first sg:person.01216456541.35
    185 rdf:rest N5492794b60a24d70a04c49e04ceae988
    186 N795623e00f8e413393244fc303edeaa4 rdf:first sg:person.0624127624.23
    187 rdf:rest Ncb68b2a102fd43569f4b2f348b87987c
    188 N7b3da09bffa64e3ba9447a59376c0c23 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    189 schema:name Connexins
    190 rdf:type schema:DefinedTerm
    191 N7f1177cc15e84128b3528a1314d8d216 schema:affiliation grid-institutes:grid.7628.b
    192 schema:familyName Holt
    193 schema:givenName Richard James
    194 rdf:type schema:Person
    195 N881a51629b1c43578cecbdf9b8bee676 rdf:first sg:person.01014724335.74
    196 rdf:rest N57fed4ace360483da13df59fdc4a9af2
    197 N89c5fd6adedc40b192f431da4100900d schema:affiliation grid-institutes:grid.498025.2
    198 schema:familyName Hoffman
    199 schema:givenName Jonathan
    200 rdf:type schema:Person
    201 N8d3bc21fc3ad421e957fec2177641ac1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    202 schema:name Cataract
    203 rdf:type schema:DefinedTerm
    204 N8d8aaa5474dc4a81a4a7f4c14d80c536 rdf:first sg:person.01162625403.14
    205 rdf:rest N34cf01cb39ca4984b8e62b0ac432b54f
    206 N8f5d9f6927db49b7aff8316876c9a1d5 rdf:first sg:person.01073156264.33
    207 rdf:rest N4b87f6ebd1a14862ab8f86f243e4c9f5
    208 N90f563d729b14e35846632841e66ae69 rdf:first sg:person.015461504620.95
    209 rdf:rest N8f5d9f6927db49b7aff8316876c9a1d5
    210 N913a6b4b059d4433b4e462c9113ee6d1 rdf:first sg:person.01225211327.95
    211 rdf:rest N795623e00f8e413393244fc303edeaa4
    212 N93a5fa3946534defabbb4e60b430073f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    213 schema:name Cohort Studies
    214 rdf:type schema:DefinedTerm
    215 N94f8dde5cfbf470ba187383cf99762da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    216 schema:name Eye Abnormalities
    217 rdf:type schema:DefinedTerm
    218 N9524cb278da74ec5ba9c425f157f11e6 rdf:first sg:person.0617700151.61
    219 rdf:rest N2bb66c4c3e4f49e295f4fedf6e87ead2
    220 Na30798d24b2f4251880adba2429fcd9e schema:name pubmed_id
    221 schema:value 29464339
    222 rdf:type schema:PropertyValue
    223 Na57edd73ace645d29f01ff456b115169 schema:name Springer Nature - SN SciGraph project
    224 rdf:type schema:Organization
    225 Na710d597bf2642d4bf157991b810ff0d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    226 schema:name Humans
    227 rdf:type schema:DefinedTerm
    228 Nab71541d14604536b92ca20ac802f2d8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    229 schema:name Eye Proteins
    230 rdf:type schema:DefinedTerm
    231 Nac958481d1cc415ead9d49498f9b059c rdf:first N7f1177cc15e84128b3528a1314d8d216
    232 rdf:rest Ndd079bebfe0d48bbb133cf4b15cd7530
    233 Naf2dc79ae7224d1a9ea1a0dac7596d66 rdf:first sg:person.01252036154.12
    234 rdf:rest Ncf1df7c54e284e8f93bfd3304705baee
    235 Nb57694368f2e4753b8ad6acc0cb66cea schema:issueNumber 8-9
    236 rdf:type schema:PublicationIssue
    237 Nbec177b573784133b19bf7f10437c3c1 rdf:first sg:person.07406041552.61
    238 rdf:rest Ne685ff2c6e444d66a46877c52c7d2955
    239 Nc276c39c41ce4c0bbf3c59f36a7555ca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    240 schema:name Heterozygote
    241 rdf:type schema:DefinedTerm
    242 Ncab487d35bc54fdcbf4f1ec3b661edfe rdf:first sg:person.0764105223.24
    243 rdf:rest N532267fc30f344009ed11e6ac984ecd0
    244 Ncb68b2a102fd43569f4b2f348b87987c rdf:first sg:person.01152731344.29
    245 rdf:rest rdf:nil
    246 Nce51c1920fe54030a4857ef7ead83fcb rdf:first sg:person.01163567632.54
    247 rdf:rest Nbec177b573784133b19bf7f10437c3c1
    248 Ncf1df7c54e284e8f93bfd3304705baee rdf:first sg:person.015023505633.88
    249 rdf:rest N8d8aaa5474dc4a81a4a7f4c14d80c536
    250 Nd1b9b70982c842bfa170a3bfb6a8cfc8 rdf:first sg:person.011146755020.80
    251 rdf:rest N6f2d4b74bdbe4ec5bdfaa5459575f19d
    252 Ndd079bebfe0d48bbb133cf4b15cd7530 rdf:first sg:person.01103277757.71
    253 rdf:rest N0f8cf74bcb034749ab54ce5d25c6deef
    254 Ne54dc55b3d14426b818b76039660c107 rdf:first sg:person.01023101212.72
    255 rdf:rest Nd1b9b70982c842bfa170a3bfb6a8cfc8
    256 Ne5f74ff6927146269e68f9ff9f26244d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    257 schema:name Phenotype
    258 rdf:type schema:DefinedTerm
    259 Ne5f84203a25f4ecbaffd8dbe050d79d1 rdf:first sg:person.01135032140.17
    260 rdf:rest N90f563d729b14e35846632841e66ae69
    261 Ne685ff2c6e444d66a46877c52c7d2955 rdf:first sg:person.0742121100.01
    262 rdf:rest N913a6b4b059d4433b4e462c9113ee6d1
    263 Nea6dd089189a484581bf6dbda65c7b03 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    264 schema:name Genetic Association Studies
    265 rdf:type schema:DefinedTerm
    266 Nf04840ddc7e0486ab3978e28ae5864ea schema:affiliation grid-institutes:grid.498025.2
    267 schema:familyName Bruty
    268 schema:givenName Jonathan
    269 rdf:type schema:Person
    270 Nfdc8a02954424c1398772e831c788c46 schema:name dimensions_id
    271 schema:value pub.1101110918
    272 rdf:type schema:PropertyValue
    273 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    274 schema:name Medical and Health Sciences
    275 rdf:type schema:DefinedTerm
    276 anzsrc-for:1113 schema:inDefinedTermSet anzsrc-for:
    277 schema:name Ophthalmology and Optometry
    278 rdf:type schema:DefinedTerm
    279 sg:journal.1085982 schema:issn 0340-6717
    280 1432-1203
    281 schema:name Human Genetics
    282 schema:publisher Springer Nature
    283 rdf:type schema:Periodical
    284 sg:person.01014724335.74 schema:affiliation grid-institutes:grid.411372.2
    285 schema:familyName Ballesta-Martínez
    286 schema:givenName Maria Juliana
    287 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014724335.74
    288 rdf:type schema:Person
    289 sg:person.01023101212.72 schema:affiliation grid-institutes:grid.83440.3b
    290 schema:familyName Blanco-Kelly
    291 schema:givenName Fiona
    292 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023101212.72
    293 rdf:type schema:Person
    294 sg:person.01073156264.33 schema:affiliation grid-institutes:grid.508721.9
    295 schema:familyName Chassaing
    296 schema:givenName Nicolas
    297 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073156264.33
    298 rdf:type schema:Person
    299 sg:person.01103277757.71 schema:affiliation grid-institutes:grid.498025.2
    300 schema:familyName Cooper-Charles
    301 schema:givenName Lisa
    302 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103277757.71
    303 rdf:type schema:Person
    304 sg:person.011146755020.80 schema:affiliation grid-institutes:grid.413448.e
    305 schema:familyName Ramos
    306 schema:givenName Patricia
    307 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011146755020.80
    308 rdf:type schema:Person
    309 sg:person.01135032140.17 schema:affiliation grid-institutes:grid.7628.b
    310 schema:familyName Ceroni
    311 schema:givenName Fabiola
    312 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135032140.17
    313 rdf:type schema:Person
    314 sg:person.01150600711.51 schema:affiliation grid-institutes:grid.411372.2
    315 schema:familyName Sanchez-Soler
    316 schema:givenName Maria Jose
    317 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150600711.51
    318 rdf:type schema:Person
    319 sg:person.01152731344.29 schema:affiliation grid-institutes:grid.498025.2
    320 schema:familyName Ragge
    321 schema:givenName Nicola K
    322 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152731344.29
    323 rdf:type schema:Person
    324 sg:person.01162625403.14 schema:affiliation grid-institutes:grid.419317.9
    325 schema:familyName Fryer
    326 schema:givenName Alan
    327 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162625403.14
    328 rdf:type schema:Person
    329 sg:person.01163567632.54 schema:affiliation grid-institutes:grid.264200.2
    330 schema:familyName Saggar
    331 schema:givenName Anand
    332 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163567632.54
    333 rdf:type schema:Person
    334 sg:person.011744335420.23 schema:affiliation grid-institutes:grid.413448.e
    335 schema:familyName Tarilonte
    336 schema:givenName Maria
    337 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011744335420.23
    338 rdf:type schema:Person
    339 sg:person.01216456541.35 schema:affiliation grid-institutes:grid.433814.9
    340 schema:familyName Bunyan
    341 schema:givenName David
    342 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01216456541.35
    343 rdf:type schema:Person
    344 sg:person.01225211327.95 schema:affiliation grid-institutes:grid.413448.e
    345 schema:familyName Ayuso
    346 schema:givenName Carmen
    347 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225211327.95
    348 rdf:type schema:Person
    349 sg:person.01252036154.12 schema:affiliation grid-institutes:grid.123047.3
    350 schema:familyName Lachlan
    351 schema:givenName Katherine
    352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252036154.12
    353 rdf:type schema:Person
    354 sg:person.01252750357.28 schema:affiliation grid-institutes:grid.417888.a
    355 schema:familyName Dureau
    356 schema:givenName Pascal
    357 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252750357.28
    358 rdf:type schema:Person
    359 sg:person.01303675721.51 schema:affiliation grid-institutes:grid.410556.3
    360 schema:familyName Stewart
    361 schema:givenName Helen
    362 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303675721.51
    363 rdf:type schema:Person
    364 sg:person.01365722134.72 schema:affiliation grid-institutes:None
    365 schema:familyName Roume
    366 schema:givenName Joëlle
    367 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365722134.72
    368 rdf:type schema:Person
    369 sg:person.014605502722.47 schema:affiliation grid-institutes:grid.413448.e
    370 schema:familyName da Silva
    371 schema:givenName Luciana Rodrigues Jacy
    372 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014605502722.47
    373 rdf:type schema:Person
    374 sg:person.015023505633.88 schema:affiliation grid-institutes:grid.10306.34
    375 schema:familyName DDD Study
    376 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015023505633.88
    377 rdf:type schema:Person
    378 sg:person.015461504620.95 schema:affiliation grid-institutes:grid.413448.e
    379 schema:familyName Aguilera-Garcia
    380 schema:givenName Domingo
    381 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015461504620.95
    382 rdf:type schema:Person
    383 sg:person.0602751265.13 schema:affiliation grid-institutes:grid.498025.2
    384 schema:familyName McMullan
    385 schema:givenName Dominic
    386 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602751265.13
    387 rdf:type schema:Person
    388 sg:person.0617700151.61 schema:affiliation grid-institutes:grid.413448.e
    389 schema:familyName Villaverde
    390 schema:givenName Cristina
    391 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617700151.61
    392 rdf:type schema:Person
    393 sg:person.0624127624.23 schema:affiliation grid-institutes:grid.413448.e
    394 schema:familyName Corton
    395 schema:givenName Marta
    396 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624127624.23
    397 rdf:type schema:Person
    398 sg:person.0720267753.88 schema:affiliation grid-institutes:grid.7628.b
    399 schema:familyName Bax
    400 schema:givenName Dorine Arjanne
    401 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0720267753.88
    402 rdf:type schema:Person
    403 sg:person.07406041552.61 schema:affiliation grid-institutes:grid.498025.2
    404 schema:familyName Griffiths
    405 schema:givenName Michael
    406 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07406041552.61
    407 rdf:type schema:Person
    408 sg:person.0742121100.01 schema:affiliation grid-institutes:grid.508721.9
    409 schema:familyName Calvas
    410 schema:givenName Patrick
    411 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742121100.01
    412 rdf:type schema:Person
    413 sg:person.0742172615.05 schema:affiliation grid-institutes:grid.419317.9
    414 schema:familyName McKay
    415 schema:givenName Victoria
    416 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742172615.05
    417 rdf:type schema:Person
    418 sg:person.0764105223.24 schema:affiliation grid-institutes:grid.498025.2
    419 schema:familyName Wallis
    420 schema:givenName Yvonne
    421 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764105223.24
    422 rdf:type schema:Person
    423 sg:pub.10.1007/11732990_17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003499206
    424 https://doi.org/10.1007/11732990_17
    425 rdf:type schema:CreativeWork
    426 sg:pub.10.1007/s00439-016-1745-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026281512
    427 https://doi.org/10.1007/s00439-016-1745-8
    428 rdf:type schema:CreativeWork
    429 sg:pub.10.1038/ejhg.2012.6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032111256
    430 https://doi.org/10.1038/ejhg.2012.6
    431 rdf:type schema:CreativeWork
    432 sg:pub.10.1038/ejhg.2013.268 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050392301
    433 https://doi.org/10.1038/ejhg.2013.268
    434 rdf:type schema:CreativeWork
    435 sg:pub.10.1038/gim.2015.78 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029791070
    436 https://doi.org/10.1038/gim.2015.78
    437 rdf:type schema:CreativeWork
    438 sg:pub.10.1038/nature07229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038869319
    439 https://doi.org/10.1038/nature07229
    440 rdf:type schema:CreativeWork
    441 sg:pub.10.1038/nature15393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021812064
    442 https://doi.org/10.1038/nature15393
    443 rdf:type schema:CreativeWork
    444 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
    445 https://doi.org/10.1038/nature19057
    446 rdf:type schema:CreativeWork
    447 sg:pub.10.1038/ng.279 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016615098
    448 https://doi.org/10.1038/ng.279
    449 rdf:type schema:CreativeWork
    450 sg:pub.10.1038/nmeth0410-248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007489634
    451 https://doi.org/10.1038/nmeth0410-248
    452 rdf:type schema:CreativeWork
    453 sg:pub.10.1038/nprot.2009.86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015642657
    454 https://doi.org/10.1038/nprot.2009.86
    455 rdf:type schema:CreativeWork
    456 sg:pub.10.1038/s41598-017-00088-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1084130229
    457 https://doi.org/10.1038/s41598-017-00088-w
    458 rdf:type schema:CreativeWork
    459 sg:pub.10.1038/srep22024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000359208
    460 https://doi.org/10.1038/srep22024
    461 rdf:type schema:CreativeWork
    462 sg:pub.10.1038/srep26551 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017330172
    463 https://doi.org/10.1038/srep26551
    464 rdf:type schema:CreativeWork
    465 sg:pub.10.1186/s12860-016-0092-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1000463234
    466 https://doi.org/10.1186/s12860-016-0092-x
    467 rdf:type schema:CreativeWork
    468 sg:pub.10.1186/s13039-016-0286-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037775138
    469 https://doi.org/10.1186/s13039-016-0286-0
    470 rdf:type schema:CreativeWork
    471 sg:pub.10.1186/s40246-014-0019-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016391910
    472 https://doi.org/10.1186/s40246-014-0019-6
    473 rdf:type schema:CreativeWork
    474 grid-institutes:None schema:alternateName Department of Clinical Genetics, Centre de Référence “AnDDI Rares”, Poissy Hospital GHU PIFO, Poissy, France
    475 schema:name Department of Clinical Genetics, Centre de Référence “AnDDI Rares”, Poissy Hospital GHU PIFO, Poissy, France
    476 rdf:type schema:Organization
    477 grid-institutes:grid.10306.34 schema:alternateName Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    478 schema:name Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    479 rdf:type schema:Organization
    480 grid-institutes:grid.123047.3 schema:alternateName Human Genetics and Genomic Medicine, Southampton General Hospital, University of Southampton, Southampton, UK
    481 schema:name Human Genetics and Genomic Medicine, Southampton General Hospital, University of Southampton, Southampton, UK
    482 Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK
    483 rdf:type schema:Organization
    484 grid-institutes:grid.264200.2 schema:alternateName Clinical Genetics Unit, St Georges University of London, London, UK
    485 schema:name Clinical Genetics Unit, St Georges University of London, London, UK
    486 rdf:type schema:Organization
    487 grid-institutes:grid.410556.3 schema:alternateName Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
    488 schema:name Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
    489 rdf:type schema:Organization
    490 grid-institutes:grid.411372.2 schema:alternateName Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain
    491 schema:name Medical Genetics Department, University Hospital Virgen de la Arrixaca, Murcia, Spain
    492 rdf:type schema:Organization
    493 grid-institutes:grid.412937.a schema:alternateName Sheffield Clinical Genetics Department, Northern General Hospital, Sheffield, UK
    494 schema:name Sheffield Clinical Genetics Department, Northern General Hospital, Sheffield, UK
    495 rdf:type schema:Organization
    496 grid-institutes:grid.413448.e schema:alternateName Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
    497 schema:name Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
    498 Genetics Service, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
    499 rdf:type schema:Organization
    500 grid-institutes:grid.417888.a schema:alternateName Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France
    501 schema:name Fondation Ophtalmologique Adolphe-de-Rothschild, Paris, France
    502 rdf:type schema:Organization
    503 grid-institutes:grid.419317.9 schema:alternateName Cheshire and Merseyside Genetics Service, Liverpool Women’s NHS Foundation Trust, Liverpool, UK
    504 schema:name Cheshire and Merseyside Genetics Service, Liverpool Women’s NHS Foundation Trust, Liverpool, UK
    505 rdf:type schema:Organization
    506 grid-institutes:grid.433814.9 schema:alternateName Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK
    507 schema:name Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK
    508 rdf:type schema:Organization
    509 grid-institutes:grid.498025.2 schema:alternateName West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK
    510 West Midlands Regional Genetics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
    511 schema:name Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK
    512 West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s NHS Foundation Trust, Mindelsohn Way, B15 2TG, Birmingham, UK
    513 West Midlands Regional Genetics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
    514 rdf:type schema:Organization
    515 grid-institutes:grid.508721.9 schema:alternateName UMR 1056 Inserm, Université de Toulouse, Toulouse, France
    516 schema:name Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France
    517 UMR 1056 Inserm, Université de Toulouse, Toulouse, France
    518 rdf:type schema:Organization
    519 grid-institutes:grid.7628.b schema:alternateName Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK
    520 schema:name Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, OX3 0BP, Oxford, UK
    521 rdf:type schema:Organization
    522 grid-institutes:grid.83440.3b schema:alternateName Institute of Ophthalmology, University College London, London, UK
    523 schema:name Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
    524 Genetics Service, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
    525 Institute of Ophthalmology, University College London, London, UK
    526 Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
    527 rdf:type schema:Organization
     




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


    ...