Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Classification of mismatch repair gene missense variants with PON-MMR

(2012) Heidi Ali et al.   HUMAN MUTATION

Integrated analysis of unclassified variants in mismatch repair genes

(2011) Chiara Pastrello et al.   GENETICS IN MEDICINE

Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

(2011) Maija R.J. Kohonen-Corish et al.   HUMAN MUTATION

Classifying variants of CDKN2A using computational and laboratory studies

(2011) Peter J. Miller et al.   HUMAN MUTATION

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

ClassifyingMLH1andMSH2variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

(2009) Sven Arnold et al.   HUMAN MUTATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Distress among women receiving uninformativeBRCA1/2results: 12-month outcomes

(2009) Suzanne C. O'Neill et al.   PSYCHO-ONCOLOGY

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

(2008) Elizabeth C. Chao et al.   HUMAN MUTATION

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

(2007) Rebecca A. Barnetson et al.   HUMAN MUTATION