Joshua P. Pillai

This study correlates 276 missense variants in PSEN1, PSEN2, and APP with Aβ peptide levels and variant effect predictors to assess pathogenicity in early-onset Alzheimer's disease.

This study evaluates AlphaMissense and other tools for distinguishing gain-of-function and loss-of-function variants in PIEZO1, finding they struggle with GoF predictions and highlighting structural and biophysical insights.

This study evaluates the pathogenicity and structural effects of TREM2 variants using AlphaFold2 to classify 32 missense variants and identify 10 destabilizing variants.