The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

(2013) Anneke T. Vulto-van Silfhout et al.   European Journal of Medical Genetics

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

(2013) Erin Rooney Riggs et al.   HUMAN MUTATION

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

(2013) D. Smedley et al.   Database-The Journal of Biological Databases and Curation

Bayesian ontology querying for accurate and noise-tolerant semantic searches

(2012) S. Bauer et al.   BIOINFORMATICS

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

(2012) S. C. Doelken et al.   Disease Models & Mechanisms

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

(2012) Erin Rooney Riggs et al.   HUMAN MUTATION

MouseFinder: Candidate disease genes from mouse phenotype data

(2012) Chao-Kung Chen et al.   HUMAN MUTATION

Ontological phenotype standards for neurogenetics

(2012) Sebastian Köhler et al.   HUMAN MUTATION

Deep phenotyping for precision medicine

(2012) Peter N. Robinson   HUMAN MUTATION

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

dcGO: database of domain-centric ontologies on functions, phenotypes, diseases and more

(2012) Hai Fang et al.   NUCLEIC ACIDS RESEARCH

Improving ontologies by automatic reasoning and evaluation of logical definitions

(2011) Sebastian Köhler et al.   BMC BIOINFORMATICS

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

PREDICT: a method for inferring novel drug indications with application to personalized medicine

(2011) A. Gottlieb et al.   Molecular Systems Biology

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf et al.   NUCLEIC ACIDS RESEARCH

Disease Ontology: a backbone for disease semantic integration

(2011) L. M. Schriml et al.   NUCLEIC ACIDS RESEARCH

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

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

(2009) A. Caciotti et al.   JOURNAL OF NEUROLOGY

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

(2009) Nicole L. Washington et al.   PLOS BIOLOGY

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

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

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH