Xueyang Pan

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

The paper correlates allelic strengths of UBA5 variants in vivo and in vitro, classifying them into mild, intermediate, and severe based on functional assays.

The paper identifies two additional receptor tyrosine kinase signals, Alk and PvR, that regulate metamorphic timing and body size in Drosophila by modulating ecdysone biosynthesis and autophagy.

This study identifies Activinβ as a positive regulator of muscle mass in Drosophila, showing it is delivered by motoneurons and affects tissue scaling during development.