Linda Zhixia Shi

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 shows that BIR is activated to repair R-loop-associated double-strand breaks in SETX-deficient cells, leading to hyper-recombination and synthetic lethality with PIF1, RAD52, and XPF.

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

This study shows that 53BP1 deficiency increases BIR-mediated hyperrecombination, leading to genome instability and potential cancer treatment opportunities.

This study shows that BDNF and TRiC-inspired reagents can rescue synaptic deficits in HD mouse models.

This study investigates how the Rab7V162M mutation in CMT2B affects mitochondrial morphology and function in fibroblasts and neurons, showing mitochondrial fragmentation and dysregulated movement.