Nicolas Pilon

This study investigates RARB-RD mouse models and finds that both GOF and DN variants compromise striatal structure and function, with transcriptional effects more severe than a null allele.

This study shows that GDNF enemas improve epithelial and immune defects in both aganglionic and ganglionic colon of Hirschsprung mice, reducing bacterial translocation and inflammation.

The paper introduces a method for systematically studying genetic interactions in human cells using CRISPR/Cas9 screens and demonstrates its effectiveness through 26 gene by genome-wide knockout screens.

This study shows that Gata4 downregulation in the hypothalamus of Greywick female mice models the metabolic subtype of PCOS by affecting fertility and food intake genes.

This study shows GDNF regenerates the missing enteric nervous system in Hirschsprung mice through non-canonical signaling in tissue-resident progenitors, suggesting potential for broader therapeutic applications.

This study shows that diet can significantly affect survival in a mouse model of Hirschsprung disease by altering gut microbes, metabolites, and epithelial gene expression.

This study investigates RFC1's role in zebrafish cerebellar development, showing its necessity for neural progenitor genomic integrity and neurogenesis.

This study identifies skeletal abnormalities in chd7-/- zebrafish, linking col2a1a depletion to craniofacial and spinal bone development defects in CHARGE syndrome.

This study identifies FAM172A as a regulator of AGO2 nuclear import and shows its role in alternative splicing defects linked to CHARGE syndrome.