Sascha Vermeer

Employment

• University Hospitals Leuven MD, PhD
  2018 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (90)

• Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES
  Human Mutation 2026 DOI: 10.1155/humu/8478740
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• Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum
  Ophthalmic Genetics 2026 DOI: 10.1080/13816810.2025.2568688
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• Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential
  European Journal Of Human Genetics 2025
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• Genetic and clinical characteristics of familial pulmonary fibrosis patients and relatives
  European Journal Of Human Genetics 2025
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• Novel genetic cause of specific macular dystrophy due to biallelic variants in three genes encoding subunits of the AP-5 complex
  European Journal Of Human Genetics 2025
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• Genetic and clinical characteristics of familial pulmonary fibrosis patients and relatives
  European Respiratory Journal 2025 DOI: 10.1183/13993003.congress-2025.OA4466
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• RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals
  Investigative Ophthalmology & Visual Science 2025 DOI: 10.1167/iovs.66.12.53
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• RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
  Research Square 2025 DOI: 10.21203/rs.3.rs-5849564/v2
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• Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
  American Journal Of Human Genetics 2025 DOI: 10.1016/j.ajhg.2025.02.015
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• CORRECTION OF PHARC syndrome: an overview (vol 19, 416, 2024)
  Orphanet Journal Of Rare Diseases 2025 DOI: 10.1186/s13023-024-03491-5
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