PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Bayesian ontology querying for accurate and noise-tolerant semantic searches

(2012) S. Bauer et al.   BIOINFORMATICS

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

(2012) Ana Rath et al.   HUMAN MUTATION

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS