Elfride B. W. De Baere

The Lipidome of iPSC-Derived Retinal Organoids and RPE Partially Resembles that of the Human Retina

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

Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval.

The paper introduces a method to enhance RNA-seq tools for differential usage, aberrant splicing, and expression retrieval by modifying normalization offsets and presents a faster tool for outlier detection.

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.

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

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.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

A proteogenomic atlas of the human neural retina

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.

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 analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

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

Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease

The paper classifies 2,247 ABCA4 variants using updated ACMG/AMP guidelines to improve genetic diagnosis and counseling for Stargardt Disease.

CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

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

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.

Genetic risk estimates for offspring of patients with Stargardt disease

The paper estimates genetic risk for offspring of Stargardt disease patients based on ABCA4 variant severity and penetrance, finding varying risks depending on parental genotypes.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal Cis-Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic Variation.

The paper identifies cis-regulatory elements and their genetic variation in human retina, macula, and RPE using epigenomic profiling and single-nucleus RNA-seq.