On the design of CRISPR-based single-cell molecular screens. Nature Methods 2018.
Multiplex assessment of protein variant
abundance by massively parallel sequencing. Nature Genetics 2018.
A multiplexed homology-directed DNA repair assay reveals the impact of ~1,700 BRCA1 variants on protein function. bioRxiv 2018.
Accurate functional classification of thousands of BRCA1 variants with saturation genome editing. bioRxiv 2018.
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. Genetics 2015.
Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis. PNAS 2014.
Massively parallel single-amino-acid mutagenesis. Nature 2014.
Reviews and Perspectives
Variant Interpretation: Functional Assays to the Rescue. AJHG 2017.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell 2017.
The power of multiplexed functional analysis of genetic variants. Nature Protocols 2016.