Between proteins and phenotypes: annotation and interpretation of mutations

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

2007 • 2,517 citations

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

2008 • 922 citations

SNAP: predict effect of non-synonymous polymorphisms on function

2007 • 811 citations

Correlating protein function and stability through the analysis of single amino acid substitutions

2009 • 105 citations

Automatic extraction of mutations from Medline and cross-validation with OMIM

2004 • 87 citations

Mutation Mining—A Prospector's Tale

2006 • 46 citations

Extraction of human kinase mutations from literature, databases and genotyping studies

2009 • 41 citations

PhenoGO: an integrated resource for the multiscale mining of clinical and biological data

2009 • 34 citations

Pairwise and higher-order correlations among drug-resistance mutations in HIV-1 subtype B protease

2009 • 32 citations

Annotation of protein residues based on a literature analysis: cross-validation against UniProtKb

2009 • 31 citations

From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways

2009 • 29 citations

MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease

2009 • 25 citations

Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations

2009 • 24 citations

A WORKFLOW FOR MUTATION EXTRACTION AND STRUCTURE ANNOTATION

2007 • 23 citations

EnzyMiner: automatic identification of protein level mutations and their impact on target enzymes from PubMed abstracts

2009 • 23 citations

Improved mutation tagging with gene identifiers applied to membrane protein stability prediction

2009 • 16 citations

An integrated approach to the interpretation of Single Amino Acid Polymorphisms within the framework of CATH and Gene3D

2009 • 11 citations

INTRODUCTION

2007 • 3 citations