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Author Details

Michael Gargano
2019
16
7
PMIDPaper TitleJournal TitlePublished Year
37684057De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.Cold Spring Harb Mol Case Stud2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37503136The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.medRxiv2023
37963467The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.Med2023
36093353Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes.medRxiv2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35665012Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs.medRxiv2022
36400170Metformin is associated with reduced COVID-19 severity in patients with prediabetes.Diabetes Res Clin Pract2022
36910590GA4GH Phenopackets: A Practical Introduction.Adv Genet (Hoboken)2022
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
34739835Interpretable prioritization of splice variants in diagnostic next-generation sequencing.Am J Hum Genet2021
34289339Interpretable prioritization of splice variants in diagnostic next-generation sequencing.Am J Hum Genet2021
32755546Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.Am J Hum Genet2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31479590Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Curr Protoc Hum Genet2019
31323892Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data.Genes (Basel)2019
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Collaborators

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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William Harvey Research Institute, Queen Mary University of London
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William Harvey Research Institute, Queen Mary University of London
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Critical Path Institute
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Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University
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William Harvey Research Institute, Queen Mary University of London
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Universita degli Studi di Milano
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Perth Children's Hospital
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Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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University of Colorado Anschutz Medical Campus
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National Institute of Allergy and Infectious Diseases, National Institutes of Health
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Translational and Clinical Research Institute, Newcastle University
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Universitatsklinikum des Saarlandes UKS
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Columbia University
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King Edward Memorial Hospital
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National Institute of Diabetes and Digestive and Kidney Disease
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