Abigail S. Krall

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.

This study identifies galectin-1 as a prognostic biomarker for predicting thermal ablation response in hepatocellular carcinoma and shows that targeting Gal-1 enhances ablation efficacy by modulating glycolysis.

The paper identifies the pentose phosphate pathway's role in regulating radial glia cell fate during human cortical development using metabolic assays and genetic manipulations.