Stijn Van de Sompele

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

The paper compares 3D genome structures between neural retina and RPE to identify tissue-specific cis-regulatory interactions at retinal disease loci.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.