Elizabeth E. Palmer

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

This study shows that MAOA dysfunction in Brunner syndrome leads to increased NMDAR activity and neuronal network hyperactivity in dopaminergic neurons.