Mondo: integrating disease terminology across communities.
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| Title: | Mondo: integrating disease terminology across communities. |
|---|---|
| Authors: | Vasilevsky NA; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States., Toro S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Matentzoglu N; Semanticly, Athens 10563, Greece., Flack JE; School of Medicine, Johns Hopkins University, Raleigh, NC 27617, United States., Mullen KR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Hegde H; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Gehrke S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Whetzel PL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Shwetar Y; Joint Department of Biomedical Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC 27519, United States., Harris NL; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Ngu MS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Alyea GL; National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169, United States., Kane MS; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States., Roncaglia P; Elsevier SciBite, Curation Team, Hinxton, Cambridge CB10 1DR, United Kingdom., Sid E; NCATS Division of Rare Diseases Research Innovation, National Institutes of Health, Bethesda, WA 98332, United States., Thaxton CL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Wood V; Department of Biochemistry, University of Cambridge, Cambridge CB2 1QW, United Kingdom., Abraham RS; Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United States., Achatz MI; Department of Oncologia, Hospital Sirio-Libanes, Sao Paulo, SP 01308-901, Brazil., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Amberger JS; Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Baker J; Department of Pediatrics-Oncology, Baylor College of Medicine, Houston, TX 77030, United States., Balhoff JP; RENCI, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, United States., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Bhalla A; Global Clinical Services/Clinical Informatics, Intelligent Medical Objects, Rosemont, IL 60018, United States., Bofill-De Ros X; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Braun IR; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States., Broeren EC; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Byer BK; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Byrne AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02140, United States., Callahan TJ; IBM Research Accelerated Materials Discovery, San Jose, CA 95120, United States., Carmody LC; Jackson Laboratory, Farmington, CT 06730, United States., Chan LE; Department of Pediatrics, University of Chicago, Chicago, IL 60637, United States., Clause AR; Department of Neurology, Washington University in St. Louis, St. Louis, MO 63130, United States., Cohen JS; Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, United States., DeLuca M; Department of Chemical Biology and Medicinal Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Deuitch NT; Translational and Functional Genomics Branch, National Human Genome Research Institute, Bethesda, MD 20892, United States., Flowers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27560, United States., Fraser J; Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC 20010, United States., Fujiwara T; Database Center for Life Science, Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan., Gitau V; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Goldstein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, United States., Gration D; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia., Groza T; Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore 138671, Singapore., Gyori BM; Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115 02445, United States., Hankey W; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Hilton JA; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, United States., Himmelstein DS; RadOverlay, Lebanon, NH 03766, United States., Hong SS; General Internal Medicine, BIDS Section, John Hopkins University School of Medicine, Baltimore, MD 21205, United States., Hoyt CT; RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074, Germany., Huether R; Department of Bioinformatics, Tempus AI, Chicago, IL 60654, United States., Hurwitz E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Jacobsen JOB; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom., Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan., Köhler S; Ada Health GmbH, AI, Berlin 10179, Germany., Korn DR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Lagorce D; INSERM, US14, PARIS, Paris 75014, France., Laraway BJ; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Li JY; Every Cure, Tech Team, Philadelphia, PA 19104, United States., Malheiro AJ; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States., McLaughlin J; EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton CB10 1SA, United Kingdom., Meldal BHM; Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS, United Kingdom., Mohan S; Department of Pathology, Duke University Health System, Durham, NC 27705, United States., Moxon SAT; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, United States., Nelson TH; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States., Nicholas FW; Sydney School of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia., Ochoa D; EMBL-EBI, Open Targets, Hinxton, Cambridgeshire CB10 1SD, United Kingdom., Olson D; Ontologies, Standards and Metadata, Critical Path Institute, Tucson, AZ 85715, United States., Oprea TI; Expert Systems Inc., San Diego, CA 92130, United States., Oskotsky TT; Division of Clinical Informatics and Digital Transformation, University of California San Francisco, San Francisco, CA 94143, United States., Osumi-Sutherland D; EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD, United Kingdom., Paris K; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Parkinson HE; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Pendlington ZM; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Peng XP; Department of Pediatrics/Genetics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, United States., Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States., Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Powell BC; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Ratliff JC; Medical and Population Genetics/Translational Genomics Group, Broad Institute of MIT and Harvard, Boston, MA 02134, United States., Rehm HL; Center for Genomic Medicine; Medical and Population Genetics, Massachusetts General Hospital; Broad Institute or MIT and Harvard, Boston, MA 02114, United States., Remennik L; CBIIT, National Cancer Institute (NCI), Bethesda, MD 20850, United States., Riggs ER; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States., Roberts S; National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798, United States., Robinson PN; Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin 10117, Germany., Ross JE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27707, United States., Schaper K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States., Schilder BM; Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, United States., Schmidt JL; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Sharp EW; Every Cure, Medical Team, Philadelphia, PA 19104, United States., Similuk MN; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, United States., Smedley D; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom., Sneddon TP; Department of Pathology and Laboratory Medicine/Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Sparks R; National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892, United States., Stefancsik R; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom., Stupp GS; Department of Integrative Structural and Computational Biology, Scripps Research Institute, La Jolla, CA 92037, United States., Sundar S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Takatsuki T; Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan., Tammen I; Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia., Tshering KC; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Unni DR; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, Basel 4051, Switzerland., Valasek E; Clinical Epidemiology, The Lady Davis Institute for Medical Research, Montreal, Quebec H3T 1E2, Canada., Vanderver A; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States., Wagner AH; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, United States., Webb RF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Welter D; Luxembourg National Data Service, LNDS, Esch-sur-Alzette 4362, Luxembourg., Yaya-Stupp D; Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Zankl A; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States., McMurry JA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, United States., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287-4922, United States., Mungall CJ; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States., Haendel MA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States. |
| Source: | Genetics [Genetics] 2026 Apr 04; Vol. 232 (4). |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41052288 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mondo: integrating disease terminology across communities. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vasilevsky+NA%22">Vasilevsky NA</searchLink>; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States.<br /><searchLink fieldCode="AU" term="%22Toro+S%22">Toro S</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Matentzoglu+N%22">Matentzoglu N</searchLink>; Semanticly, Athens 10563, Greece.<br /><searchLink fieldCode="AU" term="%22Flack+JE%22">Flack JE</searchLink>; School of Medicine, Johns Hopkins University, Raleigh, NC 27617, United States.<br /><searchLink fieldCode="AU" term="%22Mullen+KR%22">Mullen KR</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Hegde+H%22">Hegde H</searchLink>; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States.<br /><searchLink fieldCode="AU" term="%22Gehrke+S%22">Gehrke S</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Whetzel+PL%22">Whetzel PL</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Shwetar+Y%22">Shwetar Y</searchLink>; Joint Department of Biomedical Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC 27519, United States.<br /><searchLink fieldCode="AU" term="%22Harris+NL%22">Harris NL</searchLink>; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States.<br /><searchLink fieldCode="AU" term="%22Ngu+MS%22">Ngu MS</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Alyea+GL%22">Alyea GL</searchLink>; National Organization for Rare Disorders, Medical Affairs, Quincy, MA 02169, United States.<br /><searchLink fieldCode="AU" term="%22Kane+MS%22">Kane MS</searchLink>; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States.<br /><searchLink fieldCode="AU" term="%22Roncaglia+P%22">Roncaglia P</searchLink>; Elsevier SciBite, Curation Team, Hinxton, Cambridge CB10 1DR, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sid+E%22">Sid E</searchLink>; NCATS Division of Rare Diseases Research Innovation, National Institutes of Health, Bethesda, WA 98332, United States.<br /><searchLink fieldCode="AU" term="%22Thaxton+CL%22">Thaxton CL</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Wood+V%22">Wood V</searchLink>; Department of Biochemistry, University of Cambridge, Cambridge CB2 1QW, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Abraham+RS%22">Abraham RS</searchLink>; Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, United States.<br /><searchLink fieldCode="AU" term="%22Achatz+MI%22">Achatz MI</searchLink>; Department of Oncologia, Hospital Sirio-Libanes, Sao Paulo, SP 01308-901, Brazil.<br /><searchLink fieldCode="AU" term="%22Ajuyah+P%22">Ajuyah P</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Amberger+JS%22">Amberger JS</searchLink>; Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States.<br /><searchLink fieldCode="AU" term="%22Babb+L%22">Babb L</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Baker+J%22">Baker J</searchLink>; Department of Pediatrics-Oncology, Baylor College of Medicine, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Balhoff+JP%22">Balhoff JP</searchLink>; RENCI, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, United States.<br /><searchLink fieldCode="AU" term="%22Berg+JS%22">Berg JS</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Bhalla+A%22">Bhalla A</searchLink>; Global Clinical Services/Clinical Informatics, Intelligent Medical Objects, Rosemont, IL 60018, United States.<br /><searchLink fieldCode="AU" term="%22Bofill-De+Ros+X%22">Bofill-De Ros X</searchLink>; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark.<br /><searchLink fieldCode="AU" term="%22Braun+IR%22">Braun IR</searchLink>; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, United States.<br /><searchLink fieldCode="AU" term="%22Broeren+EC%22">Broeren EC</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Byer+BK%22">Byer BK</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Byrne+AB%22">Byrne AB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02140, United States.<br /><searchLink fieldCode="AU" term="%22Callahan+TJ%22">Callahan TJ</searchLink>; IBM Research Accelerated Materials Discovery, San Jose, CA 95120, United States.<br /><searchLink fieldCode="AU" term="%22Carmody+LC%22">Carmody LC</searchLink>; Jackson Laboratory, Farmington, CT 06730, United States.<br /><searchLink fieldCode="AU" term="%22Chan+LE%22">Chan LE</searchLink>; Department of Pediatrics, University of Chicago, Chicago, IL 60637, United States.<br /><searchLink fieldCode="AU" term="%22Clause+AR%22">Clause AR</searchLink>; Department of Neurology, Washington University in St. Louis, St. Louis, MO 63130, United States.<br /><searchLink fieldCode="AU" term="%22Cohen+JS%22">Cohen JS</searchLink>; Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, United States.<br /><searchLink fieldCode="AU" term="%22DeLuca+M%22">DeLuca M</searchLink>; Department of Chemical Biology and Medicinal Chemistry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Deuitch+NT%22">Deuitch NT</searchLink>; Translational and Functional Genomics Branch, National Human Genome Research Institute, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Flowers+M%22">Flowers M</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27560, United States.<br /><searchLink fieldCode="AU" term="%22Fraser+J%22">Fraser J</searchLink>; Children's National Hospital: Washington, D.C., Rare Disease Institute, Washington, DC 20010, United States.<br /><searchLink fieldCode="AU" term="%22Fujiwara+T%22">Fujiwara T</searchLink>; Database Center for Life Science, Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan.<br /><searchLink fieldCode="AU" term="%22Gitau+V%22">Gitau V</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Goldstein+JL%22">Goldstein JL</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27510, United States.<br /><searchLink fieldCode="AU" term="%22Gration+D%22">Gration D</searchLink>; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia.<br /><searchLink fieldCode="AU" term="%22Groza+T%22">Groza T</searchLink>; Agency for Science, Technology and Research (A*STAR), Bioinformatics Institute (BII), Singapore 138671, Singapore.<br /><searchLink fieldCode="AU" term="%22Gyori+BM%22">Gyori BM</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115 02445, United States.<br /><searchLink fieldCode="AU" term="%22Hankey+W%22">Hankey W</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Hilton+JA%22">Hilton JA</searchLink>; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA 94305, United States.<br /><searchLink fieldCode="AU" term="%22Himmelstein+DS%22">Himmelstein DS</searchLink>; RadOverlay, Lebanon, NH 03766, United States.<br /><searchLink fieldCode="AU" term="%22Hong+SS%22">Hong SS</searchLink>; General Internal Medicine, BIDS Section, John Hopkins University School of Medicine, Baltimore, MD 21205, United States.<br /><searchLink fieldCode="AU" term="%22Hoyt+CT%22">Hoyt CT</searchLink>; RWTH Aachen University, Institute of Inorganic Chemistry, Aachen, NRW 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Huether+R%22">Huether R</searchLink>; Department of Bioinformatics, Tempus AI, Chicago, IL 60654, United States.<br /><searchLink fieldCode="AU" term="%22Hurwitz+E%22">Hurwitz E</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JOB%22">Jacobsen JOB</searchLink>; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kikuchi+A%22">Kikuchi A</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan.<br /><searchLink fieldCode="AU" term="%22Köhler+S%22">Köhler S</searchLink>; Ada Health GmbH, AI, Berlin 10179, Germany.<br /><searchLink fieldCode="AU" term="%22Korn+DR%22">Korn DR</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Lagorce+D%22">Lagorce D</searchLink>; INSERM, US14, PARIS, Paris 75014, France.<br /><searchLink fieldCode="AU" term="%22Laraway+BJ%22">Laraway BJ</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Li+JY%22">Li JY</searchLink>; Every Cure, Tech Team, Philadelphia, PA 19104, United States.<br /><searchLink fieldCode="AU" term="%22Malheiro+AJ%22">Malheiro AJ</searchLink>; National Library of Medicine, National Institutes of Health, National Center for Biotechnology Information, Bethesda, MD 20894, United States.<br /><searchLink fieldCode="AU" term="%22McLaughlin+J%22">McLaughlin J</searchLink>; EMBL-EBI, Samples, Phenotypes, and Ontologies (SPOT), Hinxton CB10 1SA, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Meldal+BHM%22">Meldal BHM</searchLink>; Pfizer UK, Pfizer Digital, Tadworth, Surrey KT20 7NS, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mohan+S%22">Mohan S</searchLink>; Department of Pathology, Duke University Health System, Durham, NC 27705, United States.<br /><searchLink fieldCode="AU" term="%22Moxon+SAT%22">Moxon SAT</searchLink>; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States.<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, United States.<br /><searchLink fieldCode="AU" term="%22Nelson+TH%22">Nelson TH</searchLink>; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States.<br /><searchLink fieldCode="AU" term="%22Nicholas+FW%22">Nicholas FW</searchLink>; Sydney School of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia.<br /><searchLink fieldCode="AU" term="%22Ochoa+D%22">Ochoa D</searchLink>; EMBL-EBI, Open Targets, Hinxton, Cambridgeshire CB10 1SD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Olson+D%22">Olson D</searchLink>; Ontologies, Standards and Metadata, Critical Path Institute, Tucson, AZ 85715, United States.<br /><searchLink fieldCode="AU" term="%22Oprea+TI%22">Oprea TI</searchLink>; Expert Systems Inc., San Diego, CA 92130, United States.<br /><searchLink fieldCode="AU" term="%22Oskotsky+TT%22">Oskotsky TT</searchLink>; Division of Clinical Informatics and Digital Transformation, University of California San Francisco, San Francisco, CA 94143, United States.<br /><searchLink fieldCode="AU" term="%22Osumi-Sutherland+D%22">Osumi-Sutherland D</searchLink>; EMBL-EBI, Samples, Phenotypes and Ontologies, Hinxton, Cambridgeshire CB10 1SD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Paris+K%22">Paris K</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Parkinson+HE%22">Parkinson HE</searchLink>; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pendlington+ZM%22">Pendlington ZM</searchLink>; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Peng+XP%22">Peng XP</searchLink>; Department of Pediatrics/Genetics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, United States.<br /><searchLink fieldCode="AU" term="%22Pizzino+A%22">Pizzino A</searchLink>; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.<br /><searchLink fieldCode="AU" term="%22Plon+SE%22">Plon SE</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Powell+BC%22">Powell BC</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Ratliff+JC%22">Ratliff JC</searchLink>; Medical and Population Genetics/Translational Genomics Group, Broad Institute of MIT and Harvard, Boston, MA 02134, United States.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Center for Genomic Medicine; Medical and Population Genetics, Massachusetts General Hospital; Broad Institute or MIT and Harvard, Boston, MA 02114, United States.<br /><searchLink fieldCode="AU" term="%22Remennik+L%22">Remennik L</searchLink>; CBIIT, National Cancer Institute (NCI), Bethesda, MD 20850, United States.<br /><searchLink fieldCode="AU" term="%22Riggs+ER%22">Riggs ER</searchLink>; Department of Developmental Medicine, Geisinger, Danville, PA 17822, United States.<br /><searchLink fieldCode="AU" term="%22Roberts+S%22">Roberts S</searchLink>; National Organization for Rare Disorders, Information Technology, Woodbury, CT 06798, United States.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Charité Universitätsmedizin Berlin, Berlin Institute of Health, Berlin 10117, Germany.<br /><searchLink fieldCode="AU" term="%22Ross+JE%22">Ross JE</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27707, United States.<br /><searchLink fieldCode="AU" term="%22Schaper+K%22">Schaper K</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.<br /><searchLink fieldCode="AU" term="%22Schilder+BM%22">Schilder BM</searchLink>; Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, United States.<br /><searchLink fieldCode="AU" term="%22Schmidt+JL%22">Schmidt JL</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Sharp+EW%22">Sharp EW</searchLink>; Every Cure, Medical Team, Philadelphia, PA 19104, United States.<br /><searchLink fieldCode="AU" term="%22Similuk+MN%22">Similuk MN</searchLink>; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; Queen Mary University of London, William Harvey Research Institute, London EC1M 6BQ, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sneddon+TP%22">Sneddon TP</searchLink>; Department of Pathology and Laboratory Medicine/Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Sparks+R%22">Sparks R</searchLink>; National Institutes of Health, National Institute of Allergy & Infectious Diseases, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Stefancsik+R%22">Stefancsik R</searchLink>; EMBL-EBI, Knowledge Management Section, European Bioinformatics Institute, Hinxton CB10 1SD, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stupp+GS%22">Stupp GS</searchLink>; Department of Integrative Structural and Computational Biology, Scripps Research Institute, La Jolla, CA 92037, United States.<br /><searchLink fieldCode="AU" term="%22Sundar+S%22">Sundar S</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Takatsuki+T%22">Takatsuki T</searchLink>; Database Center for Life Science Joint Support-Center for Data Science Research Research Organization of Information and Systems, Kashiwa, Chiba 277-0871, Japan.<br /><searchLink fieldCode="AU" term="%22Tammen+I%22">Tammen I</searchLink>; Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.<br /><searchLink fieldCode="AU" term="%22Tshering+KC%22">Tshering KC</searchLink>; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Unni+DR%22">Unni DR</searchLink>; Personalized Health Informatics Group, SIB Swiss Institute of Bioinformatics, Basel 4051, Switzerland.<br /><searchLink fieldCode="AU" term="%22Valasek+E%22">Valasek E</searchLink>; Clinical Epidemiology, The Lady Davis Institute for Medical Research, Montreal, Quebec H3T 1E2, Canada.<br /><searchLink fieldCode="AU" term="%22Vanderver+A%22">Vanderver A</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Wagner+AH%22">Wagner AH</searchLink>; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, United States.<br /><searchLink fieldCode="AU" term="%22Webb+RF%22">Webb RF</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Welter+D%22">Welter D</searchLink>; Luxembourg National Data Service, LNDS, Esch-sur-Alzette 4362, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Yaya-Stupp+D%22">Yaya-Stupp D</searchLink>; Department of Developmental Biology and Cancer Research, The Institute for Medical Research Israel-Canada, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel.<br /><searchLink fieldCode="AU" term="%22Zankl+A%22">Zankl A</searchLink>; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Zhang+XA%22">Zhang XA</searchLink>; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States.<br /><searchLink fieldCode="AU" term="%22McMurry+JA%22">McMurry JA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States.<br /><searchLink fieldCode="AU" term="%22Chute+CG%22">Chute CG</searchLink>; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, United States.<br /><searchLink fieldCode="AU" term="%22Hamosh+A%22">Hamosh A</searchLink>; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287-4922, United States.<br /><searchLink fieldCode="AU" term="%22Mungall+CJ%22">Mungall CJ</searchLink>; Lawrence Berkeley National Laboratory, EGSB, Berkeley, CA 94720, United States.<br /><searchLink fieldCode="AU" term="%22Haendel+MA%22">Haendel MA</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220374636%22">Genetics</searchLink> [Genetics] 2026 Apr 04; Vol. 232 (4). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, U.S. Gov't, Non-P.H.S. – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0374636 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1943-2631 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200166731%22">00166731 </searchLink><i>NLM ISO Abbreviation: </i>Genetics <i>Subsets: </i>MEDLINE |
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