Sara Evans-Dutson

This study functionally characterizes mutant ASXL1 in human hematopoietic stem cells, showing it drives transcriptional activation and repression through interactions with BRD4 and MECOM, with implications for therapy.

The paper uses a saturation mutagenesis approach in a yeast model to assess PTEN variants' impact on lipid phosphatase activity, identifying functional scores for 7,244 variants and reclassifying some ClinVar unclassified variants.

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.