PhenomeNET: a whole-phenome approach to disease gene discovery

A common layer of interoperability for biomedical ontologies based on OWL EL

(2011) R. Hoehndorf et al.   BIOINFORMATICS

Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community

(2011) Gary Schindelman et al.   BMC BIOINFORMATICS

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

(2011) Joanna Amberger et al.   HUMAN MUTATION

Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects

(2011) Shimul Chowdhury et al.   PLoS One

Large scale comparison of global gene expression patterns in human and mouse

(2011) Xiangqun Zheng-Bradley et al.   GENOME BIOLOGY

Improving disease gene prioritization using the semantic similarity of Gene Ontology terms

(2010) Andreas Schlicker et al.   BIOINFORMATICS

Interoperability between phenotype and anatomy ontologies

(2010) R. Hoehndorf et al.   BIOINFORMATICS

Phenotype ontologies for mouse and man: bridging the semantic gap

(2010) P. N. Schofield et al.   Disease Models & Mechanisms

Mouse megascience

(2010)   NATURE

A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome

(2010) Daniella Magen et al.   NEW ENGLAND JOURNAL OF MEDICINE

PhenoHM: human–mouse comparative phenome–genome server

(2010) Divya Sardana et al.   NUCLEIC ACIDS RESEARCH

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

(2010) J. A. Blake et al.   NUCLEIC ACIDS RESEARCH

Systematic discovery of nonobvious human disease models through orthologous phenotypes

(2010) K. L. McGary et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

Applying the functional abnormality ontology pattern to anatomical functions

(2010) Robert Hoehndorf et al.   Journal of Biomedical Semantics

Saccharomyces Genome Database provides mutant phenotype data

(2009) S. R. Engel et al.   NUCLEIC ACIDS RESEARCH

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

Evaluation of GO-based functional similarity measures using S. cerevisiae protein interaction and expression profile data

(2008) Tao Xu et al.   BMC BIOINFORMATICS

OWL 2: The next step for OWL

(2008) Bernardo Cuenca Grau et al.   Journal of Web Semantics

FlyBase: enhancing Drosophila Gene Ontology annotations

(2008) S. Tweedie et al.   NUCLEIC ACIDS RESEARCH

Zebrafish early cardiac connexin, Cx36.7/Ecx, regulates myofibril orientation and heart morphogenesis by establishing Nkx2.5 expression

(2008) N. Sultana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA