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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 686 | 2019 |
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Activation of natural regulatory T cells by IgG Fc–derived peptide “Tregitopes” AS De Groot, L Moise, JA McMurry, E Wambre, L Van Overtvelt, ... Blood, The Journal of the American Society of Hematology 112 (8), 3303-3311, 2008 | 457 | 2008 |
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The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 349 | 2017 |
How many rare diseases are there? M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ... Nature reviews drug discovery 19 (2), 77-78, 2020 | 329 | 2020 |
Development of a definition of postacute sequelae of SARS-CoV-2 infection T Thaweethai, SE Jolley, EW Karlson, EB Levitan, B Levy, GA McComsey, ... Jama 329 (22), 1934-1946, 2023 | 324 | 2023 |
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A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ... The American Journal of Human Genetics 99 (3), 595-606, 2016 | 286 | 2016 |
Immuno‐informatics: Mining genomes for vaccine components AS De Groot, H Sbai, CS Aubin, J McMurry, W Martin Immunology and cell biology 80 (3), 255-269, 2002 | 258 | 2002 |
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ... Nucleic acids research 48 (D1), D704-D715, 2020 | 208 | 2020 |
Clinical characterization and prediction of clinical severity of SARS-CoV-2 infection among US adults using data from the US National COVID Cohort Collaborative TD Bennett, RA Moffitt, JG Hajagos, B Amor, A Anand, MM Bissell, ... JAMA network open 4 (7), e2116901-e2116901, 2021 | 202* | 2021 |
Characterizing long COVID: deep phenotype of a complex condition RR Deer, MA Rock, N Vasilevsky, L Carmody, H Rando, AJ Anzalone, ... EBioMedicine 74, 2021 | 176 | 2021 |
Characteristics, outcomes, and severity risk factors associated with SARS-CoV-2 infection among children in the US national COVID cohort collaborative B Martin, PE DeWitt, S Russell, A Anand, KR Bradwell, C Bremer, ... JAMA network open 5 (2), e2143151-e2143151, 2022 | 155 | 2022 |
A new Ontology Lookup Service at EMBL-EBI. S Jupp, T Burdett, C Leroy, HE Parkinson SWAT4LS 2, 118-119, 2015 | 155 | 2015 |
Challenges in defining Long COVID: Striking differences across literature, Electronic Health Records, and patient-reported information HM Rando, TD Bennett, JB Byrd, C Bramante, TJ Callahan, CG Chute, ... MedRxiv, 2021 | 152 | 2021 |
Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data PLoS Biology, 10.1371/journal.pbio.2001414, 2017 | 151* | 2017 |
Identifying who has long COVID in the USA: a machine learning approach using N3C data ER Pfaff, AT Girvin, TD Bennett, A Bhatia, IM Brooks, RR Deer, ... The Lancet Digital Health 4 (7), e532-e541, 2022 | 134 | 2022 |