Gemma V. Brierley

The paper uses deep mutational scanning to assess the functional impact of INSR variants, identifying clinically relevant function scores and potential gain-of-function variants.

The paper investigates an activating PIK3R1 variant linked to immunodeficiency and finds it acts as a dominant negative, reducing p110 signaling and explaining overlapping phenotypes.

This study identifies mesenchymal Igf2 as a critical paracrine regulator of pancreatic growth and function through in vivo and ex vivo experiments.