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Blood|August 30, 2023
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participantsLuca Stefanucci, Janine Collins, Matthew C Sims, et al.Scientific Data|April 11, 2024
An open source knowledge graph ecosystem for the life sciencesTiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, et al.NPJ Digital Medicine|May 19, 2023
Ontologizing health systems data at scale: making translational discovery a realityTiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 12, 2025
Phase II Trial of Ribociclib Plus Letrozole in Women With Recurrent Low-Grade Serous Carcinoma of the Ovary, Fallopian Tube, or Peritoneum: A GOG Partners Trial (GOG 3026)Brian M Slomovitz, S John Weroha, Wei Deng, et al.Database : the Journal of Biological Databases and Curation|May 26, 2022
A Simple Standard for Sharing Ontological Mappings (SSSOM)Nicolas Matentzoglu, James P Balhoff, Susan M Bello, 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|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.Ebiomedicine|November 28, 2021
Characterizing Long COVID: Deep Phenotype of a Complex ConditionRachel R Deer, Madeline A Rock, Nicole Vasilevsky, et al.Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.Pageof 54