Katherine A. Kentistou

A whole genome multiparametric CRISPR screen in progeria identifies new pathways that can reverse cellular aging phenotypes by targeting protein translation and related processes.

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 identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

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.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

The paper presents HYPOMAP, a comprehensive spatio-cellular map of the human hypothalamus, identifying BMI-associated genes and potential druggable targets.

The paper identifies a drug combination targeting human POMC neurons to reduce food intake and body weight using hPSC-derived neurons and mouse models.

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

The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

The paper uses genetic variation to assess the causal impact of food choices on health outcomes, identifying robust associations between eating patterns and several diseases.

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.