Joseph Kim

Single-cell profiling resolves gain- and loss-of-function mechanisms in CASR to advance mechanism-aware variant classification

The paper uses single-cell RNA-seq and machine learning to classify CASR variants as gain- or loss-of-function, achieving high accuracy and clinical validation.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

The paper computes longitudinal phenotypes in 466 individuals with developmental and epileptic encephalopathies to improve clinical trial readiness using electronic health records.