Lindsay F. Rizzardi

This study investigates YWHAG R132C mutations in iPSC-derived cortical neurons, revealing decoupled calcium homeostasis and signaling linked to cytoskeletal instability.

The paper identifies cell type-specific regulatory elements in nine mammals and shows their conservation and association with neuropsychiatric and neurodegenerative disease risks.

This study shows APEX2 is essential for TERT expression in hESCs and a melanoma cell line, with APEX2 knockdown reducing telomerase activity and affecting other genes, particularly those with repetitive DNA sequences.

This study identifies MEK1/2 kinases and c-Myc:MAX as regulators of TERT transcription in hESC by preventing polycomb repression.

The paper generates a multi-omic resource of TF binding maps in human brain tissues and links TF activities to neuropsychiatric disorder risk variants.

The paper identifies cis-regulatory elements (cCREs) controlling MAPT expression and links genetic variation in these elements to Alzheimer's disease risk.

The paper identifies brain region-specific variably methylated regions (VMRs) enriched for schizophrenia heritability using DNA methylation data from neuronal nuclei across multiple brain regions.

The paper identifies brain region-specific DNA methylation and chromatin accessibility differences and links them to heritability of neuropsychiatric disorders.