Lydie C. Flasse

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

The paper uses cross-species single-cell RNA-seq to identify conserved transcriptional networks in early pancreatic tumourigenesis across zebrafish, mouse, and human.

The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.

The paper identifies calcineurin's role in regulating beta cell regeneration in zebrafish by balancing progenitor proliferation and differentiation.

The paper shows that apical restriction of VANGL in pancreatic ducts is essential for epithelial integrity, with loss of restriction causing cell death and extrusion.