Wolfgang Berger

机构：University of Zurich · ORCID：0000-0002-0370-3815

发表论文 292 篇 · 总被引 10829 次 · h-index 56

代表论文

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes (2022 · Genetics in Medicine · 被引 42)
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction (2023 · Human Genetics and Genomics Advances · 被引 28)
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease (2023 · EMBO Molecular Medicine · 被引 20)
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome (2023 · Pediatric Neurology · 被引 17)
Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE (2022 · International Journal of Molecular Sciences · 被引 16)
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort (2024 · International Journal of Molecular Sciences · 被引 15)