Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

(2015) Orion J. Buske et al.   HUMAN MUTATION

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens

(2015) Cynthia L Smith et al.   Journal of Biomedical Semantics

The National Institutes of Health undiagnosed diseases program

(2014) Cynthia J. Tifft et al.   CURRENT OPINION IN PEDIATRICS

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Phenotype Ontologies and Cross-Species Analysis for Translational Research

(2014) Peter N. Robinson et al.   PLoS Genetics

The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio

(2014) Ceri E Van Slyke et al.   Journal of Biomedical Semantics

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

(2014) Melissa A Haendel et al.   Journal of Biomedical Semantics

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

A systematic genome-wide analysis of zebrafish protein-coding gene function

(2013) Ross N. W. Kettleborough et al.   NATURE

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

(2013) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

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

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

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

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

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Uberon, an integrative multi-species anatomy ontology

(2012) Christopher J Mungall et al.   GENOME BIOLOGY

Integrating phenotype ontologies across multiple species

(2010) Christopher J Mungall et al.   GENOME BIOLOGY

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