Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, CRISPR and Genetic Engineering, RNA and protein synthesis mechanisms, and Cancer Genomics and Diagnostics.
The quantitative impact of 3′UTRs on gene expression
Deciphering the impact of genomic variation on function
Retinoic acid induces human gastruloids with posterior embryo-like structures
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff
Conservation of endangered galaxiid fishes in the Falkland Islands requires urgent action on invasive brown trout
Massively parallel variant characterization identifies<i>NUDT15</i>alleles associated with thiopurine toxicity
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
Multiplex assessment of protein variant abundance by massively parallel sequencing
Variant Interpretation: Functional Assays to the Rescue
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Novel Rhizosphere Soil Alleles for the Enzyme 1-Aminocyclopropane-1-Carboxylate Deaminase Queried for Function with an <i>In Vivo</i> Competition Assay
Deep mutational scanning: a new style of protein science
Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
Engineering A-kinase Anchoring Protein (AKAP)-selective Regulatory Subunits of Protein Kinase A (PKA) through Structure-based Phage Selection
A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function