Gareth Baynam

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

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 453 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17