Daniel J. Blackwell

This study shows that RyR2-mediated Ca2+ leak causes arrhythmias and progressive cardiomyopathy in rabbits, identifying RyR2 as a therapeutic target.

This paper shows that a single copy of the N54I calmodulin mutation in mice causes CPVT-like arrhythmias, demonstrating the functional dominance of mutant calmodulin.

The paper redesigns calmodulin to improve its function while preserving conformational dynamics, showing that structural flexibility is essential for physiological regulation.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

This study maps the functional effects of thousands of KCNE1 variants using high-throughput methods, identifying loss-of-function and loss-of-surface expression variants and showing concordance with electrophysiological and computational data.

This paper introduces a high-throughput method to screen KCNH2 variants for trafficking defects, validating it with multiple assays and showing its utility for identifying loss-of-function variants.