Janne Molnes

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

This paper develops an automated pipeline to collect, unify, and translate genetic variants associated with monogenic diabetes into protein sequences, creating a database for proteomics and structural biology analysis.