Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Identification of pathogenic missense mutations using protein stability predictors

(2020) Lukas Gerasimavicius et al.   Scientific Reports

Biophysical and Mechanistic Models for Disease-Causing Protein Variants

(2019) Amelie Stein et al.   TRENDS IN BIOCHEMICAL SCIENCES

FoldX 5.0: Working with RNA, small molecules and a new graphical interface

(2019) Javier Delgado et al.   BIOINFORMATICS

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

The Rosetta All-Atom Energy Function for Macromolecular Modeling and Design

(2017) Rebecca F. Alford et al.   Journal of Chemical Theory and Computation

SDM: a server for predicting effects of mutations on protein stability

(2017) Arun Prasad Pandurangan et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

INPS-MD: a web server to predict stability of protein variants from sequence and structure: Table 1.

(2016) Castrense Savojardo et al.   BIOINFORMATICS

MAESTROweb: a web server for structure-based protein stability prediction

(2016) Josef Laimer et al.   BIOINFORMATICS

Large scale analysis of protein stability in OMIM disease related human protein variants

(2016) Pier Luigi Martelli et al.   BMC GENOMICS

ENCoM server: exploring protein conformational space and the effect of mutations on protein function and stability

(2015) Vincent Frappier et al.   NUCLEIC ACIDS RESEARCH

Gene dosage imbalances: action, reaction, and models

(2015) Reiner A. Veitia et al.   TRENDS IN BIOCHEMICAL SCIENCES

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle

(2013) Yu Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

(2011) Yves Dehouck et al.   BMC BIOINFORMATICS

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

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

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

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics

(2011) Shawn Witham et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS