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

An overview of MetaMap: historical perspective and recent advances

(2014) Alan R Aronson et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

(2012) Mark J. Rieder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An unbiased evaluation of gene prioritization tools

(2012) Daniela Börnigen et al.   BIOINFORMATICS

MouseFinder: Candidate disease genes from mouse phenotype data

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

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data

(2012) Cynthia L. Smith et al.   MAMMALIAN GENOME

The Mouse Genome Database: Genotypes, Phenotypes, and Models of Human Disease

(2012) C. J. Bult et al.   NUCLEIC ACIDS RESEARCH

ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenics

(2012) Douglas G. Howe et al.   NUCLEIC ACIDS RESEARCH

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

The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal–mesenchymal interaction

(2011) Yong-Ri Jin et al.   DEVELOPMENTAL BIOLOGY

Bioinformatics for Human Genetics: Promises and Challenges

(2011) Annika Lindblom et al.   HUMAN MUTATION

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

PhenomeNET: a whole-phenome approach to disease gene discovery

(2011) R. Hoehndorf 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

Optimizing nucleotide sequence ensembles for combinatorial protein libraries using a genetic algorithm

(2009) R. A. Craig et al.   NUCLEIC ACIDS RESEARCH

EuroPhenome: a repository for high-throughput mouse phenotyping data

(2009) Hugh Morgan et al.   NUCLEIC ACIDS RESEARCH

The mammalian phenotype ontology: enabling robust annotation and comparative analysis

(2009) Cynthia L. Smith et al.   Wiley Interdisciplinary Reviews-Systems Biology and Medicine

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

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

Semantic Similarity in Biomedical Ontologies

(2009) Catia Pesquita et al.   PLoS Computational Biology

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

(2008) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Walking the Interactome for Prioritization of Candidate Disease Genes

(2008) 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

ENDEAVOUR update: a web resource for gene prioritization in multiple species

(2008) L.-C. Tranchevent et al.   NUCLEIC ACIDS RESEARCH