View in EDS

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Saved in:
Bibliographic Details
Title: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Authors: Rekerle L; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Danis D; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Rehburg F; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Graefe AS; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Bily V; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic., Caballero-Oteyza A; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany., Cacheiro P; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Chimirri L; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Connelly E; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Dingemans AJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Duyzend MH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Freiberger T; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic., Gehle P; Deutsches Herzzentrum der Charité, Berlin, Germany., Groza T; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore., Hansen P; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Jacobsen JOB; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Klocperk A; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Love MI; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA., Marcello AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Mordhorst A; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA., Schütz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Strauss T; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Vladyka O; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK., Thun S; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA., Haendel MA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Deutsches Herzzentrum der Charité, Berlin, Germany.; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore.; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany.; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; ELLIS - the European Laboratory for Learning and Intelligent Systems., Robinson PN; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; ELLIS - the European Laboratory for Learning and Intelligent Systems.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Mar 06. Date of Electronic Publication: 2025 Mar 06.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40093222
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Rekerle+L%22">Rekerle L</searchLink>; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.<br /><searchLink fieldCode="AU" term="%22Danis+D%22">Danis D</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Rehburg+F%22">Rehburg F</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Graefe+AS%22">Graefe AS</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Bily+V%22">Bily V</searchLink>; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Caballero-Oteyza+A%22">Caballero-Oteyza A</searchLink>; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.<br /><searchLink fieldCode="AU" term="%22Cacheiro+P%22">Cacheiro P</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.<br /><searchLink fieldCode="AU" term="%22Chimirri+L%22">Chimirri L</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Chong+JX%22">Chong JX</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Connelly+E%22">Connelly E</searchLink>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22de+Vries+BB%22">de Vries BB</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJ%22">Dingemans AJ</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Duyzend+MH%22">Duyzend MH</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Freiberger+T%22">Freiberger T</searchLink>; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Gehle+P%22">Gehle P</searchLink>; Deutsches Herzzentrum der Charité, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Groza+T%22">Groza T</searchLink>; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore.<br /><searchLink fieldCode="AU" term="%22Hansen+P%22">Hansen P</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JOB%22">Jacobsen JOB</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.<br /><searchLink fieldCode="AU" term="%22Klocperk+A%22">Klocperk A</searchLink>; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Ladewig+MS%22">Ladewig MS</searchLink>; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.<br /><searchLink fieldCode="AU" term="%22Love+MI%22">Love MI</searchLink>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Marcello+AJ%22">Marcello AJ</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Mordhorst+A%22">Mordhorst A</searchLink>; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Munoz-Torres+MC%22">Munoz-Torres MC</searchLink>; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.<br /><searchLink fieldCode="AU" term="%22Reese+J%22">Reese J</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.<br /><searchLink fieldCode="AU" term="%22Schütz+C%22">Schütz C</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.<br /><searchLink fieldCode="AU" term="%22Strauss+T%22">Strauss T</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Vladyka+O%22">Vladyka O</searchLink>; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Zocche+D%22">Zocche D</searchLink>; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.<br /><searchLink fieldCode="AU" term="%22Thun+S%22">Thun S</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Deutsches Herzzentrum der Charité, Berlin, Germany.; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore.; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany.; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; ELLIS - the European Laboratory for Learning and Intelligent Systems.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; ELLIS - the European Laboratory for Learning and Intelligent Systems.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2025 Mar 06. <i>Date of Electronic Publication: </i>2025 Mar 06.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Preprint
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40093222
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1101/2025.03.05.25323315
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Rekerle L
      – PersonEntity:
          Name:
            NameFull: Danis D
      – PersonEntity:
          Name:
            NameFull: Rehburg F
      – PersonEntity:
          Name:
            NameFull: Graefe AS
      – PersonEntity:
          Name:
            NameFull: Bily V
      – PersonEntity:
          Name:
            NameFull: Caballero-Oteyza A
      – PersonEntity:
          Name:
            NameFull: Cacheiro P
      – PersonEntity:
          Name:
            NameFull: Chimirri L
      – PersonEntity:
          Name:
            NameFull: Chong JX
      – PersonEntity:
          Name:
            NameFull: Connelly E
      – PersonEntity:
          Name:
            NameFull: de Vries BB
      – PersonEntity:
          Name:
            NameFull: Dingemans AJ
      – PersonEntity:
          Name:
            NameFull: Duyzend MH
      – PersonEntity:
          Name:
            NameFull: Freiberger T
      – PersonEntity:
          Name:
            NameFull: Gehle P
      – PersonEntity:
          Name:
            NameFull: Groza T
      – PersonEntity:
          Name:
            NameFull: Hansen P
      – PersonEntity:
          Name:
            NameFull: Jacobsen JOB
      – PersonEntity:
          Name:
            NameFull: Klocperk A
      – PersonEntity:
          Name:
            NameFull: Ladewig MS
      – PersonEntity:
          Name:
            NameFull: Love MI
      – PersonEntity:
          Name:
            NameFull: Marcello AJ
      – PersonEntity:
          Name:
            NameFull: Mordhorst A
      – PersonEntity:
          Name:
            NameFull: Munoz-Torres MC
      – PersonEntity:
          Name:
            NameFull: Reese J
      – PersonEntity:
          Name:
            NameFull: Schütz C
      – PersonEntity:
          Name:
            NameFull: Smedley D
      – PersonEntity:
          Name:
            NameFull: Strauss T
      – PersonEntity:
          Name:
            NameFull: Vladyka O
      – PersonEntity:
          Name:
            NameFull: Zocche D
      – PersonEntity:
          Name:
            NameFull: Thun S
      – PersonEntity:
          Name:
            NameFull: Mungall CJ
      – PersonEntity:
          Name:
            NameFull: Haendel MA
      – PersonEntity:
          Name:
            NameFull: Robinson PN
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 03
              Text: 2025 Mar 06
              Type: published
              Y: 2025
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1