Frauke Coppieters

This study compares the lipidomic profiles of iPSC-derived retinal organoids and RPE with post-mortem human retina to assess their similarity.

This study maps the proximity interactome of NR2E3 and its G56R variant using TurboID, revealing interactions with retinal development complexes and identifying BCOR as enriched in the mutant network.

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

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

The paper identifies ultraconserved cis-regulatory elements in the human retina linked to rare eye diseases through multi-omics analysis and genomic variant mining.

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

The paper evaluates three DNA sample tracking tools in a whole exome sequencing workflow, finding the pxlence kit most reliable and cost-effective.