Andrew Tym Hattersley

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

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.

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.

This study examines how genetic variants linked to gestational diabetes affect maternal glucose levels during and after pregnancy, finding consistent associations with fasting glucose but varying effects on postprandial glucose.

The paper identifies biallelic variants in RNU6ATAC and RNU4ATAC as causes of early-onset autoimmune diabetes and immune dysregulation, showing the minor spliceosome's role in immune regulation.

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.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper quantifies DNA methylation changes in human fetal pancreas development, identifying developmental differentially methylated positions and their genomic distribution.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

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 study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

This study identifies genetic variants associated with glycaemic response to GLP-1 receptor agonists using observational and trial data, finding variants in GLP-1R and ARRB1 linked to HbA1c reduction.

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 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.

This paper shows genetic scores explain additional variance in birthweight beyond clinical variables, with maternal and fetal genetic scores adding 6.0% variance when combined.

The paper examines the effect of fetal genetic predispositions to metabolically favourable adult adiposity and BMI on birth weight and other anthropometric traits, finding stronger associations with birth weight for the adiposity alleles.

This paper estimates disease prevalence using genetic risk scores and evaluates methods for robust prevalence estimation across different scenarios.

This study uses Mendelian Randomisation to show that maternal metabolically favourable adiposity is associated with lower offspring birth weight compared to general adiposity indexed by BMI.

The paper shows that a mutation associated with neonatal diabetes disrupts chromatin activation of the insulin gene in human cells.

The paper examines how different glucose thresholds for gestational diabetes identify women with higher genetic risk for type 2 diabetes using genetic scores.

This study develops machine learning models to predict liver fat content using multi-omic and clinical data from NAFLD patients, achieving higher accuracy than existing tools.

This study evaluates SNP-chip accuracy for detecting rare pathogenic variants and finds low precision for very rare variants, highlighting risks for DTC genetic testing.

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.