Published in Dis Model Mech on April 29, 2010
PhenomeNET: a whole-phenome approach to disease gene discovery. Nucleic Acids Res (2011) 2.67
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice. Dis Model Mech (2011) 1.62
The mouse as a model for understanding chronic diseases of aging: the histopathologic basis of aging in inbred mice. Pathobiol Aging Age Relat Dis (2011) 1.56
MouseFinder: Candidate disease genes from mouse phenotype data. Hum Mutat (2012) 1.41
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. Dis Model Mech (2012) 1.39
InterMOD: integrated data and tools for the unification of model organism research. Sci Rep (2013) 1.23
Mouse genetic and phenotypic resources for human genetics. Hum Mutat (2012) 1.18
What color is the skin of a mouse? Vet Pathol (2011) 1.00
The RIKEN integrated database of mammals. Nucleic Acids Res (2010) 0.99
The Disease Ontology: fostering interoperability between biological and clinical human disease-related data. Mamm Genome (2015) 0.99
Semantically enabling a genome-wide association study database. J Biomed Semantics (2012) 0.97
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models. Brief Funct Genomics (2011) 0.85
A gene-phenotype network for the laboratory mouse and its implications for systematic phenotyping. PLoS One (2011) 0.85
Toward knowledge support for analysis and interpretation of complex traits. Genome Biol (2013) 0.84
Quantifying the impact and extent of undocumented biomedical synonymy. PLoS Comput Biol (2014) 0.83
Genome-wide identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle. BMC Genet (2016) 0.79
Evaluation and cross-comparison of lexical entities of biological interest (LexEBI). PLoS One (2013) 0.79
PosMed: Ranking genes and bioresources based on Semantic Web Association Study. Nucleic Acids Res (2013) 0.79
Quantitative comparison of mapping methods between Human and Mammalian Phenotype Ontology. J Biomed Semantics (2012) 0.77
Genetic determinants of fibro-osseous lesions in aged inbred mice. Exp Mol Pathol (2015) 0.76
Commentary on Shimoyama et al. (2012): three ontologies to define phenotype measurement data. Front Genet (2014) 0.76
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat Biotechnol (2007) 35.41
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res (2005) 30.44
The Unified Medical Language System (UMLS): integrating biomedical terminology. Nucleic Acids Res (2004) 25.99
A reference ontology for biomedical informatics: the Foundational Model of Anatomy. J Biomed Inform (2003) 21.77
The NCBI dbGaP database of genotypes and phenotypes. Nat Genet (2007) 17.93
ChEBI: a database and ontology for chemical entities of biological interest. Nucleic Acids Res (2007) 13.08
The genetic association database. Nat Genet (2004) 11.29
The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information. Genome Biol (2004) 11.18
The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res (2007) 9.75
A mouse for all reasons. Cell (2007) 9.01
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Using ontologies to describe mouse phenotypes. Genome Biol (2004) 7.03
The Adult Mouse Anatomical Dictionary: a tool for annotating and integrating data. Genome Biol (2005) 6.44
Association of genes to genetically inherited diseases using data mining. Nat Genet (2002) 5.78
Integrating phenotype ontologies across multiple species. Genome Biol (2010) 5.46
Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol (2009) 5.17
A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98
Bethesda proposals for classification of nonlymphoid hematopoietic neoplasms in mice. Blood (2002) 4.88
Annotating the human genome with Disease Ontology. BMC Genomics (2009) 4.71
The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes. Nucleic Acids Res (2007) 4.30
Bethesda proposals for classification of lymphoid neoplasms in mice. Blood (2002) 4.07
The modular nature of genetic diseases. Clin Genet (2007) 4.06
The human phenome project. Nat Genet (2003) 3.75
Gene indexing: characterization and analysis of NLM's GeneRIFs. AMIA Annu Symp Proc (2003) 3.69
The mouse as a model for human biology: a resource guide for complex trait analysis. Nat Rev Genet (2007) 3.55
Gene clustering based on RNAi phenotypes of ovary-enriched genes in C. elegans. Curr Biol (2002) 3.30
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels. Aging Cell (2009) 3.16
Using literature-based discovery to identify disease candidate genes. Int J Med Inform (2005) 3.16
X-linked mental retardation. Nat Rev Genet (2005) 3.10
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet (1994) 3.04
Ontologies in biology: design, applications and future challenges. Nat Rev Genet (2004) 3.02
FlyBase : a database for the Drosophila research community. Methods Mol Biol (2008) 3.02
Building mouse phenotype ontologies. Pac Symp Biocomput (2004) 2.89
The mouse ascending: perspectives for human-disease models. Nat Cell Biol (2007) 2.74
EuroPhenome: a repository for high-throughput mouse phenotyping data. Nucleic Acids Res (2009) 2.72
EMPReSS: standardized phenotype screens for functional annotation of the mouse genome. Nat Genet (2005) 2.71
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet (2005) 2.62
From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics (2009) 2.37
Human Gene Mutation Database: towards a comprehensive central mutation database. J Med Genet (2008) 2.37
Alopecia universalis associated with a mutation in the human hairless gene. Science (1998) 2.23
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Res (2006) 1.95
HGVbaseG2P: a central genetic association database. Nucleic Acids Res (2008) 1.90
Phenome connections. Trends Genet (2008) 1.84
Association of megacolon with two recessive spotting genes in the mouse. J Hered (1966) 1.83
Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data. BMC Bioinformatics (2009) 1.70
PhenomicDB: a new cross-species genotype/phenotype resource. Nucleic Acids Res (2006) 1.65
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet (2007) 1.55
The functional annotation of mammalian genomes: the challenge of phenotyping. Annu Rev Genet (2009) 1.54
DNA, diseases and databases: disastrously deficient. Trends Genet (2005) 1.50
PPARG by dietary fat interaction influences bone mass in mice and humans. J Bone Miner Res (2008) 1.50
Mining phenotypes for gene function prediction. BMC Bioinformatics (2008) 1.41
Adult-onset Alopecia areata is a complex polygenic trait in the C3H/HeJ mouse model. J Invest Dermatol (2004) 1.38
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet (2008) 1.37
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans. Exp Dermatol (1998) 1.33
Quantitative trait loci that determine BMD in C57BL/6J and 129S1/SvImJ inbred mice. J Bone Miner Res (2005) 1.17
Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. Dermatologica (1954) 1.16
Mouse genome informatics (MGI) resources for pathology and toxicology. Toxicol Pathol (2007) 1.12
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. Lab Anim (2002) 0.90
Removing the cloak of invisibility: phenotyping the mouse. Dis Model Mech (2008) 0.90
Genetics of metabolic syndrome: is there a role for phenomics? Curr Atheroscler Rep (2008) 0.88
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing. PLoS One (2009) 0.88
Animal trait ontology: The importance and usefulness of a unified trait vocabulary for animal species. J Anim Sci (2008) 0.87
A method exploiting syntactic patterns and the UMLS semantics for aligning biomedical ontologies: the case of OBO disease ontologies. Int J Med Inform (2007) 0.85
Bioinformatics methods for identifying candidate disease genes. Hum Genomics (2006) 0.84
The "hairless" gene in mouse and man. Arch Dermatol (1999) 0.81
Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project. Nat Biotechnol (2008) 12.96
Using ontologies to describe mouse phenotypes. Genome Biol (2004) 7.03
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Integrating phenotype ontologies across multiple species. Genome Biol (2010) 5.46
Uberon, an integrative multi-species anatomy ontology. Genome Biol (2012) 5.43
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature (2006) 5.07
Post-publication sharing of data and tools. Nature (2009) 4.46
The Mouse Tumor Biology Database: a public resource for cancer genetics and pathology of the mouse. Cancer Res (2002) 4.31
SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis. Nature (2011) 4.14
Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis. Development (2003) 3.84
Elimination of antigen-presenting cells and autoreactive T cells by Fas contributes to prevention of autoimmunity. Immunity (2007) 3.84
Phenotype ontologies: the bridge between genomics and evolution. Trends Ecol Evol (2007) 3.68
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med (2006) 3.58
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels. Aging Cell (2009) 3.16
Understanding mammalian genetic systems: the challenge of phenotyping in the mouse. PLoS Genet (2006) 3.14
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
EuroPhenome: a repository for high-throughput mouse phenotyping data. Nucleic Acids Res (2009) 2.72
PhenomeNET: a whole-phenome approach to disease gene discovery. Nucleic Acids Res (2011) 2.67
Pathbase: a database of mutant mouse pathology. Nucleic Acids Res (2004) 2.66
Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol (2005) 2.64
EuroPhenome and EMPReSS: online mouse phenotyping resource. Nucleic Acids Res (2007) 2.54
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
The Mouse Tumor Biology database. Nat Rev Cancer (2008) 2.15
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biol (2013) 2.04
SHARPIN is an endogenous inhibitor of β1-integrin activation. Nat Cell Biol (2011) 2.01
Towards BioDBcore: a community-defined information specification for biological databases. Nucleic Acids Res (2010) 1.97
PlantProm: a database of plant promoter sequences. Nucleic Acids Res (2003) 1.86
Characterization of Notch3-deficient mice: normal embryonic development and absence of genetic interactions with a Notch1 mutation. Genesis (2003) 1.84
Cdcs1, a major colitogenic locus in mice, regulates innate and adaptive immune response to enteric bacterial antigens. Gastroenterology (2005) 1.81
Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources. Mamm Genome (2007) 1.75
Ancient papillomavirus-host co-speciation in Felidae. Genome Biol (2007) 1.75
Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data. BMC Bioinformatics (2009) 1.70
'Cyclic alopecia' in Msx2 mutants: defects in hair cycling and hair shaft differentiation. Development (2003) 1.70
EMPReSS: European mouse phenotyping resource for standardized screens. Bioinformatics (2005) 1.69
Models for financial sustainability of biological databases and resources. Database (Oxford) (2009) 1.64
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice. Dis Model Mech (2011) 1.62
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor). Hum Mol Genet (2003) 1.58
Substance P as an immunomodulatory neuropeptide in a mouse model for autoimmune hair loss (alopecia areata). J Invest Dermatol (2007) 1.54
The functional annotation of mammalian genomes: the challenge of phenotyping. Annu Rev Genet (2009) 1.54
Vitamin D(3) receptor ablation sensitizes skin to chemically induced tumorigenesis. Carcinogenesis (2002) 1.52
Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol (2009) 1.52
Solutions for data integration in functional genomics: a critical assessment and case study. Brief Bioinform (2008) 1.47
Antibodies that label paraffin-embedded mouse tissues: a collaborative endeavor. Toxicol Pathol (2004) 1.43
MouseFinder: Candidate disease genes from mouse phenotype data. Hum Mutat (2012) 1.41
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. Dis Model Mech (2012) 1.39
A common layer of interoperability for biomedical ontologies based on OWL EL. Bioinformatics (2011) 1.35
Genetics of colitis susceptibility in IL-10-deficient mice: backcross versus F2 results contrasted by principal component analysis. Genomics (2002) 1.35
Evidence that the satin hair mutant gene Foxq1 is among multiple and functionally diverse regulatory targets for Hoxc13 during hair follicle differentiation. J Biol Chem (2006) 1.34
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease. Mamm Genome (2009) 1.31
Endogenous retinoids in the pathogenesis of alopecia areata. J Invest Dermatol (2012) 1.28
Identifying aberrant pathways through integrated analysis of knowledge in pharmacogenomics. Bioinformatics (2012) 1.27
Towards BioDBcore: a community-defined information specification for biological databases. Database (Oxford) (2011) 1.24
Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics (2011) 1.24
Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning. PLoS One (2011) 1.24
Glycerol regulates stratum corneum hydration in sebaceous gland deficient (asebia) mice. J Invest Dermatol (2003) 1.23
Research funding. Sustaining the data and bioresource commons. Science (2010) 1.21
Tandem and cryptic amino acid repeats accumulate in disordered regions of proteins. Genome Biol (2009) 1.21
Development and progression of alopecia in the vitamin D receptor null mouse. J Cell Physiol (2006) 1.20
Refined histopathologic scoring system improves power to detect colitis QTL in mice. Mamm Genome (2004) 1.20
PRIME importance of pathology expertise. Nat Biotechnol (2009) 1.19
Cloning and genomic characterization of Felis domesticus papillomavirus type 1. Virology (2002) 1.19
Mouse genetic and phenotypic resources for human genetics. Hum Mutat (2012) 1.18
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Dis Model Mech (2013) 1.17
Gene array profiling and immunomodulation studies define a cell-mediated immune response underlying the pathogenesis of alopecia areata in a mouse model and humans. J Invest Dermatol (2002) 1.17
Isolation and cloning of the raccoon (Procyon lotor) papillomavirus type 1 by using degenerate papillomavirus-specific primers. J Gen Virol (2005) 1.16
Integrating systems biology models and biomedical ontologies. BMC Syst Biol (2011) 1.16
CRAVE: a database, middleware and visualization system for phenotype ontologies. Bioinformatics (2004) 1.15
Mutations in sterol O-acyltransferase 1 (Soat1) result in hair interior defects in AKR/J mice. J Invest Dermatol (2010) 1.15
Inhibition of NF-κB signaling retards eosinophilic dermatitis in SHARPIN-deficient mice. J Invest Dermatol (2010) 1.14
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet (2008) 1.14
Evaluation of research in biomedical ontologies. Brief Bioinform (2012) 1.12
Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse. Genome Res (2004) 1.12
The C3H/HeJ mouse and DEBR rat models for alopecia areata: review of preclinical drug screening approaches and results. Exp Dermatol (2008) 1.12
Pathology of rodent models of intestinal cancer: progress report and recommendations. Gastroenterology (2013) 1.12
Advancing translational research. Science (2011) 1.11
FOXN1 is critical for onycholemmal terminal differentiation in nude (Foxn1) mice. J Invest Dermatol (2004) 1.10
Retinoid metabolism is altered in human and mouse cicatricial alopecia. J Invest Dermatol (2012) 1.10
Finding and sharing: new approaches to registries of databases and services for the biomedical sciences. Database (Oxford) (2010) 1.08
Detecting cryptically simple protein sequences using the SIMPLE algorithm. Bioinformatics (2002) 1.08
A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol (2012) 1.08
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments. Genome Biol (2010) 1.07
Blockade of VEGF receptor-3 aggravates inflammatory bowel disease and lymphatic vessel enlargement. Inflamm Bowel Dis (2013) 1.05
Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations. Cell Cycle (2014) 1.05
The mouse pathology ontology, MPATH; structure and applications. J Biomed Semantics (2013) 1.05
Characterization of the progressive skin disease and inflammatory cell infiltrate in mice with inhibited NF-kappaB signaling. J Invest Dermatol (2004) 1.04
Semantic integration of physiology phenotypes with an application to the Cellular Phenotype Ontology. Bioinformatics (2012) 1.03
Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita. J Invest Dermatol (2007) 1.02
Distinguishing mouse strains by proteomic analysis of pelage hair. J Invest Dermatol (2009) 1.01
Genomic analysis of the first laboratory-mouse papillomavirus. J Gen Virol (2010) 1.01
Is the filaggrin-histidine-urocanic acid pathway essential for stratum corneum acidification? J Invest Dermatol (2010) 0.99
A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol (2010) 0.99