Leigh Carmody

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

Medicine, Bioinformatics, Neurology +15

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Kent Shefchek, Nomi L. Harris, Michael Gargano et al. · Nucleic Acids Research · 2019 · 265 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Peter Horak, Malachi Griffith, Arpad Danos et al. · Genetics in Medicine · 2022 · 239 citations · Full text

Medicine, Genetics, Oncology +17