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

High-Resolution Genetic Mapping Using the Mouse Diversity Outbred Population

(2012) Karen L. Svenson et al.   GENETICS

MouseFinder: Candidate disease genes from mouse phenotype data

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

Mouse genetic and phenotypic resources for human genetics

(2012) Paul N. Schofield et al.   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

Computational tools for comparative phenomics: the role and promise of ontologies

(2012) Georgios V. Gkoutos 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

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

(2012) M. K. Russell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse

(2012) Miao Sun et al.   G3-Genes Genomes Genetics

Ten Years of the Collaborative Cross

(2012) David W. Threadgill et al.   G3-Genes Genomes Genetics

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

Improving ontologies by automatic reasoning and evaluation of logical definitions

(2011) Sebastian Köhler et al.   BMC BIOINFORMATICS

Rapid Identification of a Disease Allele in Mouse Through Whole Genome Sequencing and Bulk Segregation Analysis

(2011) C. N. Arnold et al.   GENETICS

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

(2011) Joanna Amberger et al.   HUMAN MUTATION

Autism candidate genes via mouse phenomics

(2011) Terrence F. Meehan et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Rare structural variation of synapse and neurotransmission genes in autism

(2011) X Gai et al.   MOLECULAR PSYCHIATRY

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

(2011) William C. Skarnes et al.   NATURE

AnnotQTL: a new tool to gather functional and comparative information on a genomic region

(2011) F. Lecerf et al.   NUCLEIC ACIDS RESEARCH

The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse

(2011) J. T. Eppig et al.   NUCLEIC ACIDS RESEARCH

GeneWeaver: a web-based system for integrative functional genomics

(2011) Erich J. Baker et al.   NUCLEIC ACIDS RESEARCH

PhenomeNET: a whole-phenome approach to disease gene discovery

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

The UniProt-GO Annotation database in 2011

(2011) E. C. Dimmer et al.   NUCLEIC ACIDS RESEARCH

Disease Ontology: a backbone for disease semantic integration

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

VeryGene: linking tissue-specific genes to diseases, drugs, and beyond for knowledge discovery

(2011) Xiaoqin Yang et al.   PHYSIOLOGICAL GENOMICS

Selection-Independent Generation of Gene Knockout Mouse Embryonic Stem Cells Using Zinc-Finger Nucleases

(2011) Anna Osiak et al.   PLoS One

Defining the Role of Essential Genes in Human Disease

(2011) Jonathan E. Dickerson et al.   PLoS One

BioMart as an integration solution for the International Knockout Mouse Consortium

(2011) D. J. Oakley et al.   Database-The Journal of Biological Databases and Curation

Phenoclustering: online mining of cross-species phenotypes

(2010) Philip Groth et al.   BIOINFORMATICS

MamPhEA: a web tool for mammalian phenotype enrichment analysis

(2010) Meng-Pin Weng et al.   BIOINFORMATICS

ENU-Based Gene-Driven Mutagenesis in the Mouse: A Next-Generation Gene-Targeting System

(2010) Yoichi GONDO et al.   EXPERIMENTAL ANIMALS

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

(2010) Tamim H. Shaikh et al.   HUMAN MOLECULAR GENETICS

Cross-product extensions of the Gene Ontology

(2010) Christopher J. Mungall et al.   JOURNAL OF BIOMEDICAL INFORMATICS

The National Heart, Lung, and Blood Institute Bench to Bassinet Program: A New Paradigm for Translational Research

(2010) Jonathan R. Kaltman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Uncovering Genes and Regulatory Pathways Related to Urinary Albumin Excretion

(2010) R. S. Hageman et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

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

The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium

(2010) M. Ringwald et al.   NUCLEIC ACIDS RESEARCH

Human variation databases

(2010) J. Kuntzer et al.   Database-The Journal of Biological Databases and Curation

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data

(2009) Tim Beck et al.   BMC BIOINFORMATICS

International Gene Trap Project: Towards Gene-driven Saturation Mutagenesis in Mice

(2009) Masatake Araki et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation

(2009) Victor Guryev et al.   FEBS LETTERS

Chromosomal mobilization and reintegration ofSleeping BeautyandPiggyBactransposons

(2009) Qi Liang et al.   GENESIS

A piggyBac transposon-based genome-wide library of insertionally mutated Blm-deficient murine ES cells

(2009) W. Wang et al.   GENOME RESEARCH

EuroPhenome: a repository for high-throughput mouse phenotyping data

(2009) Hugh Morgan et al.   NUCLEIC ACIDS RESEARCH

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen 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

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

(2009) Melissa K. Boles et al.   PLoS 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

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

(2008) G. M. Hansen et al.   GENOME RESEARCH

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

(2008) Silvia Mandillo et al.   PHYSIOLOGICAL GENOMICS