Thomas William Laver

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 assesses the genetic evidence for NEUROD1, PDX1, APPL1, and WFS1 in MODY, finding that only NEUROD1 and PDX1 variants are enriched, while APPL1 and WFS1 are not.

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

The paper evaluates REVEL's performance in predicting pathogenicity of loss-of-function and gain-of-function variants, finding it better at predicting pathogenicity for loss-of-function variants.

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 estimates penetrance of monogenic diabetes variants across different ascertainment contexts, finding age-related variability for HNF1A/HNF4A variants but consistent penetrance for GCK variants.

SavvyCNV calls genome-wide CNVs using off-target reads from exome and targeted sequencing, outperforming existing tools and detecting clinically relevant CNVs previously missed.

This study uses UK Biobank data to assess the penetrance and pathogenicity of rare variants, finding reduced penetrance and variable expressivity for some clinically relevant variants.

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.

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.