Paul Avillach
Boston Children's Hospital(US)Harvard University(US)
Publications by Year
Research Areas
Biomedical Text Mining and Ontologies, Machine Learning in Healthcare, Pharmacovigilance and Adverse Drug Reactions, Genomics and Rare Diseases, Electronic Health Records Systems
Most-Cited Works
- → The Human Phenotype Ontology in 2024: phenotypes around the world(2023)337 cited
- → Real-world data reveal a diagnostic gap in non-alcoholic fatty liver disease(2018)266 cited
- → Non-alcoholic fatty liver disease and risk of incident acute myocardial infarction and stroke: findings from matched cohort study of 18 million European adults(2019)248 cited
- → International electronic health record-derived COVID-19 clinical course profiles: the 4CE consortium(2020)212 cited
- → A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey(2016)182 cited
- → Evolving phenotypes of non-hospitalized patients that indicate long COVID(2021)150 cited
- → A framework for the investigation of rare genetic disorders in neuropsychiatry(2019)136 cited
- → A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy(2019)130 cited
- → What Every Reader Should Know About Studies Using Electronic Health Record Data but May Be Afraid to Ask(2021)114 cited
- → De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population(2020)110 cited