Bernhard H. F. Weber

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.

The glucocorticoid receptor as a master regulator of Mueller cell gliosis in the diabetic retina

The paper identifies the glucocorticoid receptor as a master regulator of Muller cell gliosis in diabetic retinopathy and shows that increasing GR expression can improve retinal function.

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

This study performs a genome-wide association meta-analysis of early AMD, identifying 11 loci, 9 novel, and highlighting shared and distinct genetic factors between early and advanced AMD.

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.

Cell type-specific complement expression from healthy and diseased retinae

The paper identifies cell type-specific complement expression patterns in healthy and diseased retinas across human and murine models, highlighting age-related and disease-induced changes.