Orphanet

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry et al. · European Journal of Human Genetics · 2019 · 1.8K citations · Full text

Public Health, Health Sciences, Population Health Sciences +16

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

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Ana Rath, Annie Olry, Ferdinand Dhombres et al. · Human Mutation · 2012 · 396 citations · Full text

Public Health, Bioinformatics, Health Informatics +17