Azad Bonni

This study identifies TCF4 as a downstream effector of PHF6 in neural stem cell regulation, showing its role in restricting self-renewal and rescuing BFLS phenotypes.

This study shows that USP7 deletion in mice causes neurological phenotypes, including synaptic proteome changes and dendritic spine defects, independent of p53.

This study identifies a functional interaction between MeCP2 and TOP2β in neurons, showing MeCP2 inhibits TOP2β activity at long genes, which may contribute to neurodevelopmental disorders.

The paper identifies a potent ASO targeting UBE3A-ATS in Angelman syndrome patient neurons, showing long-lasting effects in cynomolgus monkeys.

This study uses iPSC models to show that a 15q13.3 duplication causes distinct neurodevelopmental and functional anomalies in an affected individual but not their unaffected mother, while both share increased cholinergic activity.

This study models multiplex autism using iPSC-derived neurons from a family with varying ASD liability, identifying morphological, physiological, and transcriptomic changes linked to polygenic susceptibility.