Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biomedical Text Mining and Ontologies, Genomics and Rare Diseases, COVID-19 Clinical Research Studies, and Long-Term Effects of COVID-19.
The Unified Phenotype Ontology : a framework for cross-species integrative phenomics
The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics
The Human Phenotype Ontology in 2024: phenotypes around the world
Coding long COVID: characterizing a new disease through an ICD-10 lens
Long COVID risk and pre-COVID vaccination in an EHR-based cohort study from the RECOVER program
Risk of post-acute sequelae of SARS-CoV-2 infection associated with pre-coronavirus disease obstructive sleep apnea diagnoses: an electronic health record-based analysis from the RECOVER initiative
Identifying who has long COVID in the USA: a machine learning approach using N3C data
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
Characteristics, Outcomes, and Severity Risk Factors Associated With SARS-CoV-2 Infection Among Children in the US National COVID Cohort Collaborative
The GA4GH Phenopacket schema defines a computable representation of clinical data
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study
Unifying the identification of biomedical entities with the Bioregistry
GA4GH Phenopackets: A Practical Introduction
Clinical Characterization and Prediction of Clinical Severity of SARS-CoV-2 Infection Among US Adults Using Data From the US National COVID Cohort Collaborative
Characterizing Long COVID: Deep Phenotype of a Complex Condition
The Human Phenotype Ontology in 2021
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
The case for open science: rare diseases
How many rare diseases are there?
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Uniform resolution of compact identifiers for biomedical data
Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data
The Human Phenotype Ontology in 2017
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species