Maria E. Calandranis

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 paper introduces ParSE-seq, a multiplexed assay to assess splice-altering variants, showing high correlation between experimental and computational predictions.

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.