Multiplex assessment of protein variant abundance by massively parallel sequencing

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

A platform for functional assessment of large variant libraries in mammalian cells

(2017) Kenneth A. Matreyek et al.   NUCLEIC ACIDS RESEARCH

Trade-offs between enzyme fitness and solubility illuminated by deep mutational scanning

(2017) Justin R. Klesmith et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global analysis of protein folding using massively parallel design, synthesis, and testing

(2017) Gabriel J. Rocklin et al.   SCIENCE

AACR Project GENIE: Powering Precision Medicine through an International Consortium

(2017)   Cancer Discovery

Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait

(2016) C Liu et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Local fitness landscape of the green fluorescent protein

(2016) Karen S. Sarkisyan et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Prospective functional classification of all possible missense variants in PPARG

(2016) Amit R Majithia et al.   NATURE GENETICS

The power of multiplexed functional analysis of genetic variants

(2016) Molly Gasperini et al.   Nature Protocols

Inherited PTEN mutations and the prediction of phenotype

(2016) Nicholas R. Leslie et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Family-Specific Variants and the Limits of Human Genetics

(2016) Brian H. Shirts et al.   TRENDS IN MOLECULAR MEDICINE

Conformational Stability and Catalytic Activity of PTEN Variants Linked to Cancers and Autism Spectrum Disorders

(2015) Sean B. Johnston et al.   BIOCHEMISTRY

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Protein Destabilization as a Common Factor in Diverse Inherited Disorders

(2015) Rachel L. Redler et al.   JOURNAL OF MOLECULAR EVOLUTION

PTEN Functions by Recruitment to Cytoplasmic Vesicles

(2015) Adam Naguib et al.   MOLECULAR CELL

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Cancer-Associated PTEN Mutants Act in a Dominant-Negative Manner to Suppress PTEN Protein Function

(2014) Antonella Papa et al.   CELL

Therapeutic Targeting of Cancers with Loss of PTEN Function

(2014) Lloye Dillon et al.   CURRENT DRUG TARGETS

Phospholipid-binding Sites of Phosphatase and Tensin Homolog (PTEN)

(2014) Yang Wei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Measuring the activity of protein variants on a large scale using deep mutational scanning

(2014) Douglas M Fowler et al.   Nature Protocols

A new class of cancer-associated PTEN mutations defined by membrane translocation defects

(2014) H-N Nguyen et al.   ONCOGENE

A rapid, efficient, and economical inverse polymerase chain reaction-based method for generating a site saturation mutant library

(2013) Pankaj C. Jain et al.   ANALYTICAL BIOCHEMISTRY

Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing: 2013 Update

(2013) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

High-throughput Analysis ofin vivoProtein Stability

(2013) Ikjin Kim et al.   MOLECULAR & CELLULAR PROTEOMICS

Mutational landscape and significance across 12 major cancer types

(2013) Cyriac Kandoth et al.   NATURE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Nomenclature for alleles of the thiopurine methyltransferase gene

(2013) Malin L. Appell et al.   Pharmacogenetics and Genomics

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

(2012) Michael Krauthammer et al.   NATURE GENETICS

The functions and regulation of the PTEN tumour suppressor

(2012) Min Sup Song et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genetic alterations of PTEN in human melanoma

(2011) Almass-Houd Aguissa-Touré et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A continuum model for tumour suppression

(2011) Alice H. Berger et al.   NATURE

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

(2010) Megan S. Lee et al.   CANCER RESEARCH

Very important pharmacogene summary

(2010) Laura M. Hodges et al.   Pharmacogenetics and Genomics

Allele-specific tumor spectrum in Pten knockin mice

(2010) H. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of conformational sampling in computing mutation-induced changes in protein structure and stability

(2010) Elizabeth H. Kellogg et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

PTEN hamartoma tumor syndrome: An overview

(2009) Judith A Hobert et al.   GENETICS IN MEDICINE

Enzymatic assembly of DNA molecules up to several hundred kilobases

(2009) Daniel G Gibson et al.   NATURE METHODS

Global Protein Stability Profiling in Mammalian Cells

(2008) H.-C. S. Yen et al.   SCIENCE