Hélène Choquet

This study identifies PRSS56 as a retinal factor promoting ocular axial growth and links it to myopia susceptibility through genetic and functional analyses.

This study identifies ten genetic loci associated with dry eye disease and finds significant genetic correlations with several comorbidities.

This study identifies ADGRG6 as a gene involved in adipogenesis and sex-specific fat distribution, showing its potential as a therapeutic target for metabolic disease.

This study shows GLIS1 regulates trabecular meshwork function and intraocular pressure, with a human variant linked to glaucoma.

This study identifies 54 new genetic risk loci for cataract through a multiethnic GWAS meta-analysis and finds sex-specific effects and gene expression relevance in mouse models.

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

This paper performs a large-scale TWAS of blood cell phenotypes, identifies 239 gene-trait associations, and develops an R Shiny app to visualize TWAS results.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.