Kevin Colclough

This study shows that polygenic risk scores for diabetes traits are associated with higher HbA1c and increased diabetes diagnosis risk in GCK-MODY carriers, highlighting the interaction between monogenic and polygenic factors.

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

The paper shows that common genetic variants influence disease risk and severity in monogenic diabetes, modifying clinical outcomes in individuals with pathogenic variants.

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.

This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

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.

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