Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis

Personalized Medicine: Progress and Promise

(2011) Isaac S. Chan et al.   Annual Review of Genomics and Human Genetics

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

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Using bioinformatics to predict the functional impact of SNVs

(2010) M. S. Cline et al.   BIOINFORMATICS

Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

(2010) R Dorfman et al.   CLINICAL GENETICS

Human allelic variation: perspective from protein function, structure, and evolution

(2010) Daniel M Jordan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Characterization ofBRCA1andBRCA2deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

(2010) Åke Borg et al.   HUMAN MUTATION

Small molecule correctors of F508del-CFTR discovered by structure-based virtual screening

(2010) Ori Kalid et al.   JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Path to Personalized Medicine

(2010) Margaret A. Hamburg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next generation tools for the annotation of human SNPs

(2009) Rachel Karchin   BRIEFINGS IN BIOINFORMATICS

Cancer-Specific High-Throughput Annotation of Somatic Mutations: Computational Prediction of Driver Missense Mutations

(2009) H. Carter et al.   CANCER RESEARCH

Molecular models of the open and closed states of the whole human CFTR protein

(2009) Jean-Paul Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

NMR evidence for differential phosphorylation-dependent interactions in WT and ΔF508 CFTR

(2009) Voula Kanelis et al.   EMBO JOURNAL

Structure and Dynamics of NBD1 from CFTR Characterized Using Crystallography and Hydrogen/Deuterium Exchange Mass Spectrometry

(2009) H.A. Lewis et al.   JOURNAL OF MOLECULAR BIOLOGY

Beyond odds ratios — communicating disease risk based on genetic profiles

(2009) Peter Kraft et al.   NATURE REVIEWS GENETICS

Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details

(2009) V. Potapov et al.   PROTEIN ENGINEERING DESIGN & SELECTION

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry

Atomic model of human cystic fibrosis transmembrane conductance regulator: Membrane-spanning domains and coupling interfaces

(2008) J.-P. Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

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

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

(2008) C. Castellani et al.   Journal of Cystic Fibrosis

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function

(2008) A. W. R. Serohijos et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA