Whole-Genome Landscape of Retinal Hemangioblastomas
RHs are benign neoplasms with little somatic changes compared with other VHL-syndrome associated tumors. Variants affecting VHL impact downstream gene expression, variants impacting different VHL domains result in differential gene expression of these downstream targets. RNA sequencing may aid in the evaluation of variants of unknown significance.
Authors
- Erwin Brosens (ORCID: https://orcid.org/0000-0001-8235-4010)
- Robert M. Verdijk (ORCID: https://orcid.org/0000-0003-1437-214X)
- Koen A. van Overdam (ORCID: https://orcid.org/0000-0002-5425-7210)
- Anass Hajjaj (ORCID: https://orcid.org/0000-0002-1842-7462)
- Maria M. Alves (ORCID: https://orcid.org/0000-0003-0083-5318)
- Tom Brands (ORCID: https://orcid.org/0000-0003-0865-8934)
- Annelies de Klein (ORCID: https://orcid.org/0000-0002-1513-4787)
- Marc Veckeneer (ORCID: https://orcid.org/0000-0003-2240-9053)
- Rogier A. Oldenburg
- on behalf of the Rotterdam Ocular Melanoma Study Group
- Bert Eussen
- Kiki Bals
- Emine Kiliç
- Bianca M. de Graaf
Institutions
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
- Province of Antwerp (BE)
- Rotterdam Eye Hospital (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Erasmus MC Cancer Institute (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Translational Vision Science & Technology
- Published
- 2026-01-06
- DOI
- https://doi.org/10.1167/tvst.15.1.5
- Primary Topic
- Cancer, Hypoxia, and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00