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

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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, 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
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.12.001