Véronique Vitart

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

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 performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

This paper creates a mouse model of Brittle Cornea Syndrome to study the molecular mechanisms of corneal thinning and its pathogenic effects.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

The paper analyzes whole genome sequencing data from an isolated Shetland population, finding increased ultra-rare variants in exonic and regulatory regions compared to mainland Scottish populations.

This study identifies 11 genome-wide significant loci for retinal detachment by combining small clinical and large population-based datasets, with six loci replicated in an independent dataset.

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 paper identifies genetic loci associated with retinal vascular tortuosity and links one of them to coronary artery disease risk.

The paper demonstrates the research value of linking Electronic Health Records to genetic data in Generation Scotland participants and describes access mechanisms.