The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

(2015) Nidhi Sahni et al.   CELL

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

(2014) Peter I. Joyce et al.   HUMAN MOLECULAR GENETICS

Human germline and pan-cancer variomes and their distinct functional profiles

(2014) Yang Pan et al.   NUCLEIC ACIDS RESEARCH

The structural and functional signatures of proteins that undergo multiple events of post-translational modification

(2014) Vikas Pejaver et al.   PROTEIN SCIENCE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants

(2013) Thomas A. Peterson et al.   JOURNAL OF MOLECULAR BIOLOGY

The Effects of Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) on Protein–Protein Interactions

(2013) Christopher M. Yates et al.   JOURNAL OF MOLECULAR BIOLOGY

ASD v2.0: updated content and novel features focusing on allosteric regulation

(2013) Zhimin Huang et al.   NUCLEIC ACIDS RESEARCH

Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations

(2012) V. E. Gray et al.   BIOINFORMATICS

Allosteric post-translational modification codes

(2012) Ruth Nussinov et al.   TRENDS IN BIOCHEMICAL SCIENCES

Improving the prediction of disease-related variants using protein three-dimensional structure

(2011) Emidio Capriotti et al.   BMC BIOINFORMATICS

Computational Methods for Identification of Functional Residues in Protein Structures

(2011) Fuxiao Xin et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome

(2011) Rita Casadio et al.   HUMAN MUTATION

ccPDB: compilation and creation of data sets from Protein Data Bank

(2011) H. Singh et al.   NUCLEIC ACIDS RESEARCH

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

(2011) G. De Baets et al.   NUCLEIC ACIDS RESEARCH

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

Structures of mouse SOD1 and human/mouse SOD1 chimeras

(2010) Sai V. Seetharaman et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease

(2010) Fuxiao Xin et al.   BIOINFORMATICS

Graphlet Kernels for Prediction of Functional Residues in Protein Structures

(2010) Vladimir Vacic et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

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

(2009) Yana Bromberg et al.   BMC BIOINFORMATICS

Prediction of hot spot residues at protein-protein interfaces by combining machine learning and energy-based methods

(2009) Stefano Lise et al.   BMC BIOINFORMATICS

Next generation tools for the annotation of human SNPs

(2009) Rachel Karchin   BRIEFINGS IN BIOINFORMATICS

Stability effects of mutations and protein evolvability

(2009) Nobuhiko Tokuriki et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Identification, analysis, and prediction of protein ubiquitination sites

(2009) Predrag Radivojac et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Influence of Sequence Changes and Environment on Intrinsically Disordered Proteins

(2009) Amrita Mohan et al.   PLoS Computational Biology

Gain and loss of phosphorylation sites in human cancer

(2008) P. Radivojac et al.   BIOINFORMATICS

Tight Regulation of Unstructured Proteins: From Transcript Synthesis to Protein Degradation

(2008) J. Gsponer et al.   SCIENCE