Stephen O’Rahilly

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This study identifies genetic and proteomic factors influencing pediatric stature across life stages and links them to adult height and type 2 diabetes risk.

This study shows that mice adjust their behavior and metabolism in response to protein restriction, with temperature affecting amino acid homeostasis and metabolic adaptations.

This study identifies biallelic SREK1 variants causing a Prader-Willi-like syndrome with obesity and hypotonia in consanguineous children.

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.

This study uses population-scale whole genome sequencing to identify novel rare protein-coding variants associated with cardiometabolic traits, revealing new biological mechanisms and gene functions.

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

The paper identifies chromatin loop rewiring in adipogenesis and discovers novel regulators and gene-trait associations relevant to obesity and diabetes.

This study identifies fetal and maternal GDF15 as key factors in pregnancy-related nausea and vomiting, showing their roles in disease risk and severity.

The study shows that the H202D variant in GDF-15 does not affect its bioactivity but causes underreporting in R&D immunoassays, with correction equations provided.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

The paper identifies the prevalence and phenotypic impact of loss of function mutations in the MC4R gene in a UK birth cohort, finding a 0.30% carrier rate with significant effects on body weight and BMI.

The paper identifies β-MSH and desacetyl-MSH as major POMC-derived peptides in human hypothalamic neurons, suggesting their underappreciated role in obesity.

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.

This paper introduces the Recall-by-Genotype study design to improve causal inference in genetic studies through genotype-directed deep-phenotyping.

This study creates a mouse model of SHORT syndrome by introducing a Pik3r1 mutation, revealing lipodystrophic insulin resistance without dyslipidemia.

The paper investigates the association between maternal serum GDF15 concentrations and nausea/vomiting in pregnancy, finding higher levels in women with vomiting and anti-emetic use.

The paper uses single-cell RNA sequencing to reveal heterogeneity in murine hypothalamic POMC neurons, identifying distinct subpopulations with different gene expression profiles and receptor expression.