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Joshua Pillai

University of California, San Diego

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Open access Jul 2026

Correlations of PSEN1, PSEN2, and APP missense variants on the production of Aβ peptides against variant effect prediction

Abstract INTRODUCTION Early‐onset Alzheimer's disease (EOAD) is mostly caused by mutations in presenilin‐1/2 (PSEN1, PSEN2) and amyloid precursor protein (APP) genes. Both genetic and experimental evidence have supported the PSEN‐APP amyloid hypothesis as the leading pathogenesis of Alzheimer's disease (AD). Thus far,...

Jiyeon Song, Serina Yan, Sophia Liu et al. · 0 citations
Open access Jul 2026

Resolving the classification rates and molecular architecture of early-onset chronic kidney disease with NephVar

The NephVar renal registry is established, which aims to be a molecular dictionary for nephrologists to classify variants and resolve their unique molecular effects, and it is demonstrated that variant effect prediction is effective for downgrading variants of unknown significance and classifying AR genes, but challeng...

Joshua Pillai, J. Sayer · 0 citations

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