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Genome Medicine|May 8, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disordersSarah K Westbury, Ernest Turro, Daniel Greene, et al.
NAR Cancer|April 27, 2022
PDXNet portal: patient-derived Xenograft model, data, workflow and tool discoverySoner Koc, Michael W Lloyd, Jeffrey W Grover, et al.
Nature Genetics|March 3, 2015
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalanceJames J Crowley, Vasyl Zhabotynsky, Wei Sun, et al.
The Journal of Allergy and Clinical Immunology|September 19, 2025
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meetingJacques G Rivière, Lisa Bastarache, Luiza C Campos, et al.
Genetics|March 6, 2025
The Unified Phenotype Ontology : a framework for cross-species integrative phenomicsNicolas Matentzoglu, Susan M Bello, Ray Stefancsik, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomicsNicolas Matentzoglu, Susan M Bello, Ray Stefancsik, et al.
Nucleic Acids Research|November 24, 2023
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across speciesTim E Putman, Kevin Schaper, Nicolas Matentzoglu, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
Nucleic Acids Research|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
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