Stephanie L. Bielas

The paper uses donor-matched iPSC-derived FAPs to show that T2D GWAS signals are enriched in adipogenic FAP subtypes under high-insulin exposure.

This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.

This study investigates the role of ASXL3 in cardiac development using mouse and human models, finding that its loss leads to cardiac abnormalities and extracellular matrix dysfunction.

This study shows ASXL3 regulates cortical neuron fate through extrinsic signaling and epigenetic pathways, linking it to ASD risk.

This study identifies a homozygous ISCA1 variant causing a new type of multiple mitochondrial dysfunctions syndrome with similar clinical features to known MMDS types.