Related references
Note: Only part of the references are listed.The Biological Coherence of Human Phenome Databases
Martin Oti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Sebastian Koehler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Elements of Morphology: Standard Terminology for the Hands and Feet
Leslie G. Biesecker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Standard Terminology for the Ear
Alasdair Hunter et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Introduction
Judith E. Allanson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Standard Terminology for the Periorbital Region
Bryan D. Hall et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Standard Terminology for the Nose and Philtrum
Raoul C. M. Hennekam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Standard Terminology for the Lips, Mouth, and Oral Region
John C. Carey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Elements of Morphology: Standard Terminology for the Head and Face
Judith E. Allanson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
The brachydactylies: a molecular disease family
S. Mundlos
CLINICAL GENETICS (2009)
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease
John M. Hancock et al.
MAMMALIAN GENOME (2009)
Exome sequencing takes centre stage in cancer profiling
Brendan Maher
NATURE (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
PHENOMICS: THE SYSTEMATIC STUDY OF PHENOTYPES ON A GENOME-WIDE SCALE
R. M. Bilder et al.
NEUROSCIENCE (2009)
McKusick's Online Mendelian Inheritance in Man (OMIM®)
Joanna Amberger et al.
NUCLEIC ACIDS RESEARCH (2009)
Database resources of the National Center for Biotechnology Information
Eric W. Sayers et al.
NUCLEIC ACIDS RESEARCH (2009)
What the Patient Should Order
Rebecca Daniels Kush
SCIENCE TRANSLATIONAL MEDICINE (2009)
Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
Nicole L. Washington et al.
PLOS BIOLOGY (2009)
Walking the interactome for prioritization of candidate disease genes
Sebastian Koehler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
Peter N. Robinson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Ontologizer 2.0 - a multifunctional tool for GO term enrichment analysis and data exploration
Sebastian Bauer et al.
BIOINFORMATICS (2008)
Global gene expression analysis identifies PDEF transcriptional networks regulating cell migration during cancer progression
David P. Turner et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Integrating mouse anatomy and pathology ontologies into a phenotyping database: Tools for data capture and training
John P. Sundberg et al.
MAMMALIAN GENOME (2008)
Use and misuse of the gene ontology annotations
Seung Yon Rhee et al.
NATURE REVIEWS GENETICS (2008)
A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes
Kasper Lage et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Network properties of genes harboring inherited disease mutations
Igor Feldman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
ChEBI: a database and ontology for chemical entities of biological interest
Kirill Degtyarenko et al.
NUCLEIC ACIDS RESEARCH (2008)
Recommendations for locus-speciific databases and their curation
R. G. H. Cotton et al.
HUMAN MUTATION (2008)
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
Barry Smith et al.
NATURE BIOTECHNOLOGY (2007)
The commonality of protein interaction networks determined in neurodegenerative disorders (NDDs)
Vachiranee Limviphuvadh et al.
BIOINFORMATICS (2007)
Network-based analysis of affected biological processes in type 2 diabetes models
Manway Liu et al.
PLOS GENETICS (2007)
The human disease network
Kwang-Il Goh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
A human phenome-interactome network of protein complexes implicated in genetic disorders
Kasper Lage et al.
NATURE BIOTECHNOLOGY (2007)
The modular nature of genetic diseases
M. Oti et al.
CLINICAL GENETICS (2007)
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
Bruce D. Gelb et al.
HUMAN MOLECULAR GENETICS (2006)
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Anita Rauch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay
Myriam Srour et al.
PEDIATRICS (2006)
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
Janghoo Lim et al.
CELL (2006)
Creation and implications of a phenome-genome network
AJ Butte et al.
NATURE BIOTECHNOLOGY (2006)
Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations
LG Biesecker
CLINICAL GENETICS (2005)
The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information
CL Smith et al.
GENOME BIOLOGY (2005)
The Sequence Ontology: a tool for the unification of genome annotations
K Eilbeck et al.
GENOME BIOLOGY (2005)
An ontology for cell types
J Bard et al.
GENOME BIOLOGY (2005)
Ontologizing gene-expression microarray data:: characterizing clusters with Gene Ontology
PN Robinson et al.
BIOINFORMATICS (2004)
From syndrome families to functional genomics
HG Brunner et al.
NATURE REVIEWS GENETICS (2004)
After the genome - the phenome?
CR Scriver
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation
PW Lord et al.
BIOINFORMATICS (2003)
A reference ontology for biomedical informatics: the Foundational Model of Anatomy
C Rosse et al.
JOURNAL OF BIOMEDICAL INFORMATICS (2003)