Elizabeth D. Buttermore

The paper introduces an open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons, validated for disease modeling and therapeutic screening.

This study compares neuronal activity and gene expression in CDD patient-derived neurons from two differentiation methods, finding early hyperexcitability in organoid-derived neurons but not induced neurons.

This study uses patient-derived iPSCs with a GNAO1 variant to show altered neuronal differentiation and function in cortical neurons.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.