Gabriel Grullon

This study shows that SOD1 trisomy disrupts ENS development and increases HSCR risk by reducing RET expression and altering glial states.

This study shows that reduced function alleles in Ret and Ednrb genes cause Hirschsprung disease by disrupting their gene regulatory network and leading to cell fate reversal in the enteric nervous system.

The paper investigates how a non-coding variant in a RET enhancer and a coding null allele together cause loss of inhibitory motor neurons in the enteric nervous system, leading to Hirschsprung disease.

This study identifies IL34 as a neuron-derived cytokine that regulates microglia maturation and synapse engulfment in the developing mouse cortex.