Alicia Guemez‐Gamboa

The paper compares the molecular and functional effects of a PACS1 variant (p.R203W) with complete PACS1 loss-of-function in iPSC-derived neurons, finding distinct phenotypes suggesting a non-loss-of-function mechanism.

This study examines how the PACS1 p.R203W variant affects the proteomic landscape of brain organoids, identifying dysregulated proteins and processes linked to neurodevelopmental disorders.

This study uses iPSC-derived neurons to show that the PACS1 p.R203W variant causes synaptic signaling deficits and prolonged neuronal network bursts in human neurons.

This study shows that PCDH12 loss impairs cerebral organoid development and neuronal migration, leading to neurodevelopmental disorders.

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.