Neal Sondheimer

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

The paper develops cerebral organoids from iPSCs derived from PBMCs to study mitochondrial health across stages and shows preserved mitochondrial function and treatment responses.

This study shows that G-quadruplex structures in mtDNA regulate mitochondrial function, and RHPS4, a G4 ligand, affects mtDNA replication, transcription, and respiratory function in normal cells.

This study shows that small-molecule G-quadruplex binders can reduce pathogenic mtDNA heteroplasmy in fibroblasts, increasing complex I protein levels.