Miriam Bauwens

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.

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

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

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

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

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

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

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

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