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List of works by Paul N. Schofield

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

scientific article (publication date: 2014)
PhenomeNET: a whole-phenome approach to disease gene discovery

scientific article
The role of ontologies in biological and biomedical research: a functional perspective

scientific article
Entity/quality-based logical definitions for the human skeletal phenome using PATO

scientific article
Mouse genetic and phenotypic resources for human genetics

scientific article
MouseFinder: Candidate disease genes from mouse phenotype data

scientific article
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

scientific article published on 25 October 2012
Phenotype ontologies for mouse and man: bridging the semantic gap.

scientific article
Mouse Phenotype Database Integration Consortium: integration [corrected] of mouse phenome data resources

scientific article
The Units Ontology: a tool for integrating units of measurement in science

scientific article
Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning

scientific article
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases

scientific article published on 08 June 2015
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice

scientific article published on 25 October 2011
Aber-OWL: a framework for ontology-based data access in biology

scientific article
Mouse model phenotypes provide information about human drug targets

scientific article published on 24 October 2013
A common layer of interoperability for biomedical ontologies based on OWL EL.

scientific article
The mouse pathology ontology, MPATH; structure and applications

scientific article published on 13 September 2013
Improving ontologies by automatic reasoning and evaluation of logical definitions

scientific article
The anatomy of phenotype ontologies: principles, properties and applications.

scientific article published on 06 April 2017
Semantic prioritization of novel causative genomic variants

scientific article
The neurobehavior ontology: an ontology for annotation and integration of behavior and behavioral phenotypes

scientific article published on January 2012
Mouse, man, and meaning: bridging the semantics of mouse phenotype and human disease

scientific article published on 02 August 2009
Linking PharmGKB to phenotype studies and animal models of disease for drug repurposing.

scientific article published in January 2012
Analyzing gene expression data in mice with the Neuro Behavior Ontology

scientific article
Systematic analysis of experimental phenotype data reveals gene functions

scientific article
An integrative, translational approach to understanding rare and orphan genetically based diseases

scientific article published on April 2013
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models

scientific article
Integrating phenotype ontologies with PhenomeNET.

scientific article published on 19 December 2017
Computational tools for comparative phenomics: the role and promise of ontologies

scientific article published on 20 July 2012
Finding and sharing: new approaches to registries of databases and services for the biomedical sciences

scientific article
Living inside the box: environmental effects on mouse models of human disease

scientific article published on 01 October 2018
Show and tell: disclosure and data sharing in experimental pathology

scientific article
Similarity-based search of model organism, disease and drug effect phenotypes

scientific article published on 19 February 2015
DeepPVP: phenotype-based prioritization of causative variants using deep learning

scientific article published on 06 February 2019
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program

scientific article
PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease research

scientific article published on 3 June 2019
Using AberOWL for fast and scalable reasoning over BioPortal ontologies

scientific article
A Review of Current Standards and the Evolution of Histopathology Nomenclature for Laboratory Animals

article
Evolving paradigms for the biological response to low dose ionizing radiation; the role of epigenetics.

scientific article published on 20 November 2017
Ontology-based validation and identification of regulatory phenotypes

scientific article published on 01 September 2018
DermO; an ontology for the description of dermatologic disease

scientific article published on 13 June 2016
DeepPVP: phenotype-based prioritization of causative variants using deep learning

scholarly article published 2 May 2018
Datamining with Ontologies

scientific article published on January 2016
Establishing the Japan-Store house of animal radiobiology experiments (J-SHARE), a large-scale necropsy and histopathology archive providing international access to important radiobiology data

scientific article published on 26 June 2019
Nail abnormalities identified in an ageing study of 30 inbred mouse strains

scientific article published on 04 September 2018
Quantitative evaluation of ontology design patterns for combining pathology and anatomy ontologies

scientific article published on 11 March 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants

scientific article published in Scientific Reports
Best behaviour? Ontologies and the formal description of animal behaviour

scientific article published on 28 July 2015
Big data in radiation biology and epidemiology; an overview of the historical and contemporary landscape of data and biomaterial archives

scientific article published on 08 April 2019
PATHBIO: an international training program for precision mouse phenotyping

scientific article published on 22 February 2020

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