Arthur Wüster

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper benchmarks genetic prevalence estimates of autosomal recessive diseases against newborn screening data, finding concordance influenced by population databases and ancestry matching.

The paper identifies coding variants in the CIDEC gene associated with small low-luminance visual deficit in AMD patients, showing an indirect effect on fat storage and lipid droplet fusion.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

The paper identifies bidirectional effect genes associated with short stature using GWAS data and validates their therapeutic potential through functional assays and clinical trial success.

The paper identifies a PILRA variant that reduces ligand binding and HSV-1 infection, potentially protecting against Alzheimer’s disease.