Bradley W. Doble

The paper uses Drosophila to model CK2 variants causing neurodevelopmental disorders, finding loss- and gain-of-function effects and Wnt/β-catenin-mediated phenotypes.

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

This study shows TCF7L1 and TCF7 have distinct chromatin occupancy patterns in mouse ES cells, with TCF7L1 binding more genes and showing target-specific modulation by GSK-3 inhibition.