Konstantina Skourti-Stathaki

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

The paper identifies SALL4 as a protein that interprets DNA base composition by binding to AT-rich motifs, and shows its role in controlling cell fate through regulation of AT-rich gene expression.