William E. Lowry

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 study uses single-nucleus multi-omics to analyze the developing Down syndrome neocortex, identifying dysregulated molecular and gene-regulatory mechanisms affecting neurogenesis and cell specification.

This study identifies glutaminolysis as a therapeutic target to suppress emergency myelopoiesis by targeting glutaminase in hematopoietic stem and progenitor cells.

The paper identifies gene expression signatures in Alzheimer's disease neurons with tau aggregates, revealing shared and subtype-specific molecular changes related to synaptic function and metabolism.

The paper develops a single-nuclei RNA sequencing approach to study MECP2 dysfunction in Rett Syndrome, identifying aberrant gene expression and a role for POU2F1/OCT1 in stress response.

This study identifies neural oscillations and epileptiform changes in human brain organoids derived from MECP2 mutant patients using calcium imaging and extracellular recordings.

This paper introduces DGSEA, a method to compare the relative enrichment of two gene sets, showing it outperforms GSEA in capturing metabolic shifts and identifying novel dependencies in cancer cell lines.

The paper defines single cell transcriptomic profiles of 40,000 human neocortical cells to identify cell types, developmental trajectories, and disease-related gene expression.

The paper shows that apparent length-dependent gene misregulation in synaptic disorders is an artifact of amplification-based methods, not intrinsic to Mecp2 disruption.

This study shows that loss of MECP2 in neurons leads to p53 induction and cell senescence, causing dendritic defects.

This study shows TDG regulates cell cycle-related gene expression and neural differentiation in human neural progenitors derived from hPSCs.