John R. B. Perry

This study identifies a variant in PARP1 associated with earlier menopause by affecting primordial germ cell fate through altered DNA binding and transcriptional regulation.

The paper estimates the contribution of rare coding variants to cancer heritability using UK Biobank whole-exome sequencing data and finds ovarian cancer has the highest proportion of heritability from protein-truncating variants.

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 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 investigates the association between mosaic loss of chromosome Y (mLOY) and pulmonary fibrosis, finding mLOY correlates with age and telomere length but not disease severity, and suggests a potential link between telomere shortening and mLOY.

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 uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

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

The paper identifies shared genetic architecture across different types of clonal hematopoiesis and finds that overlapping mutations increase hematological malignancy risk.

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

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 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 genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

This study identifies 370 genetic loci associated with age at first sex and birth, linking them to externalising behaviour and reproductive biology.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

This study identifies 78 genetic signals for male puberty timing using a large sample of men, revealing links to hair color and health outcomes.

The paper estimates genetic correlations between antisocial behavior and life history traits using GWAS data, finding positive and negative associations with reproductive output and delayed reproductive onset, respectively.

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