The human phenotype ontology: a tool for annotating and analyzing human hereditary disease

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Network properties of genes harboring inherited disease mutations

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Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

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From syndrome families to functional genomics

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Computational Approaches to Phenotyping: High-Throughput Phenomics

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CGMIM: Automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes

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ClinVar: public archive of relationships among sequence variation and human phenotype

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Massive mining of publicly available RNA-seq data from human and mouse

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Uberon, an integrative multi-species anatomy ontology

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

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A taxonomy has been developed for outcomes in medical research to help improve knowledge discovery

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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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Characterization of the proteome, diseases and evolution of the human postsynaptic density

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Why digital medicine depends on interoperability

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

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Next-generation diagnostics and disease-gene discovery with the Exomiser

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Computational tools for prioritizing candidate genes: boosting disease gene discovery

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Improved exome prioritization of disease genes through cross-species phenotype comparison

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The mammalian phenotype ontology: enabling robust annotation and comparative analysis

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Graph representation learning in biomedicine and healthcare

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Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

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Assessing the landscape of <i>STXBP1</i> -related disorders in 534 individuals

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Testing for ancient selection using cross-population allele frequency differentiation

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Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

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DeepPVP: phenotype-based prioritization of causative variants using deep learning

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Mapping the multiscale structure of biological systems

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Biologically informed variational autoencoders allow predictive modeling of genetic and drug-induced perturbations

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Runx2 (Runt-Related Transcription Factor 2)-Mediated Microcalcification Is a Novel Pathological Characteristic and Potential Mediator of Abdominal Aortic Aneurysm

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eRAM: encyclopedia of rare disease annotations for precision medicine

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An ontology-based knowledge graph for representing interactions involving RNA molecules

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Formatting biological big data for modern machine learning in drug discovery

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New associations between drug-induced adverse events in animal models and humans reveal novel candidate safety targets

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Not so weak PICO: leveraging weak supervision for participants, interventions, and outcomes recognition for systematic review automation.

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Simulation of undiagnosed patients with novel genetic conditions

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PhenCards: a data resource linking human phenotype information to biomedical knowledge

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A rolling phenotype in Crohn's disease

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Corrigendum to “From phenotype to gene: Detecting disease‐specific gene functional modules via a text‐based human disease phenotype network construction” [FEBS Lett. 584 (2010) 3635–3643]

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Development of the relationship between COPD phenotype and AECOPD

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Perianal Disease Predicts Changes in Crohn's Disease Phenotype—Results of a Population-Based Study of Inflammatory Bowel Disease Phenotype

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