NaEshia Ancalade

3D-genome impacts of TAD-boundary-disrupting ultra-rare structural variants identified in schizophrenia

The paper identifies and functionally characterizes TAD-boundary-disrupting ultra-rare structural variants in schizophrenia using CRISPR/Cas9 in iPSCs, showing cell-type-specific effects on 3D-genome organization and gene expression.

Characterization of single gene copy number variants in schizophrenia

The paper investigates the role of single-gene copy number variants in schizophrenia risk using exome-sequencing data from a Swedish cohort, identifying significant deletions in voltage-gated calcium channels.

Common Variant Associations with Fragile X Syndrome

This study identifies genome-wide significant associations near FMR1 with Fragile X Syndrome in males, highlighting the complexity of monogenetic disorders.