Lili‐Naz Hazrati

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

The paper uses TRAP-Bac to study translational gene expression changes in direct and indirect pathways of LDOPA-induced dyskinesia in mice, identifying pathway-specific gene expression patterns.

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.