Jayne Houghton

This study detects low-level mosaic variants in blood DNA from individuals with congenital hyperinsulinism using tNGS and confirms them with ddPCR.

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 identifies chromosome 20p11.2 deletions as a cause of congenital hyperinsulinism by disrupting FOXA2 expression in pancreatic beta-cells.

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

The paper screens for syndromic gene mutations in individuals with hyperinsulinaemic hypoglycaemia (HH) and finds a rare pathogenic variant in KMT2D associated with Kabuki syndrome.