Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition

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

(2020) Konrad J. Karczewski et al.   NATURE

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

(2020) Benjamin J Livesey et al.   Molecular Systems Biology

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

(2020) Melissa A Chiasson et al.   eLife

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Biophysical and Mechanistic Models for Disease-Causing Protein Variants

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

Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome

(2019) Delphine Bouvet et al.   GASTROENTEROLOGY

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

(2019) Mev Dominguez-Valentin et al.   GENETICS IN MEDICINE

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

(2019) Amanda B Abildgaard et al.   eLife

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Mutation effects predicted from sequence co-variation

(2017) Thomas A Hopf et al.   NATURE BIOTECHNOLOGY

Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations

(2017) Sofie V. Nielsen et al.   PLoS Genetics

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24MLH1andMSH2Gene Variants

(2016) Rossella Tricarico et al.   HUMAN MUTATION

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associatedMSH2DNA mismatch repair gene variants

(2016) Hellen Houlleberghs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep mutational scanning: a new style of protein science

(2014) Douglas M Fowler et al.   NATURE METHODS

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

(2013) Mark Drost et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

(2012) Lene Juel Rasmussen et al.   HUMAN MUTATION

Classification of mismatch repair gene missense variants with PON-MMR

(2012) Heidi Ali et al.   HUMAN MUTATION

Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2

(2012) T. Arlow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

(2010) S. L. Martinez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Learning generative models for protein fold families

(2010) Sivaraman Balakrishnan et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Estimating the Per-Base-Pair Mutation Rate in the Yeast Saccharomyces cerevisiae

(2008) Gregory I. Lang et al.   GENETICS