Zizheng Li

CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

Massively parallel jumping assay decodes Alu retrotransposition activity

The paper develops a high-throughput assay to test retrotransposon jumping activity and identifies variants that influence transposition.

Multi-ancestry meta-analysis and fine-mapping in Alzheimer's Disease

This study conducts a multi-ancestry GWAS meta-analysis of Alzheimer's disease, identifies two novel loci, and assesses polygenic risk score generalizability across populations.

Dissecting the effects of GTPase and kinase domain mutations on LRRK2 endosomal localization and activity

The paper investigates how GTPase and kinase domain mutations in LRRK2 affect endosomal localization and Rab phosphorylation, finding that GTPase-inactivating mutants lead to more LRRK2+ endosomes and higher Rab phosphorylation.

A scalable screening platform for phenotypic subtyping of ALS patient-derived fibroblasts

The paper develops a scalable platform combining microscopy and machine learning to subtype ALS patient fibroblasts, identifying a FUS-ALS phenotypic score that correlates with age and treatment response.