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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

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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, Berlin, Germany., Rehburg F; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany., Graefe ASL; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, 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, 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, NC, USA., de Vries BBA; 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 AJM; 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, 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, NC, USA; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, NC, 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, Berlin, Germany., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health, Partner Site Leipzig/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, Berlin, Germany., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Haendel MA; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany; ELLIS - the European Laboratory for Learning and Intelligent Systems, Tübingen, Germany. Electronic address: peter.robinson@bih-charite.de.
Source: American journal of human genetics [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 57-70. Date of Electronic Publication: 2025 Dec 23.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
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  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, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Rehburg+F%22">Rehburg F</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Graefe+ASL%22">Graefe ASL</searchLink>; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, 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, 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, NC, USA.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</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+AJM%22">Dingemans AJM</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, 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, NC, USA; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, NC, 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, 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, USA.<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="%22Schuetz+C%22">Schuetz C</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health, Partner Site Leipzig/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, 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>; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany; ELLIS - the European Laboratory for Learning and Intelligent Systems, Tübingen, Germany. Electronic address: peter.robinson@bih-charite.de.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 57-70. <i>Date of Electronic Publication: </i>2025 Dec 23.
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