Research interests

Functional genetics and molecular biology of metabolic disorders in general but with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisome biogenesis.

 

specialisation

Functional genetics, Clinical Laboratory Geneticist

Research output

  1. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

    Research output: Contribution to journal › Article › Academic › peer-review

  2. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

    Research output: Contribution to journal › Article › Academic › peer-review

  3. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene

    Research output: Contribution to journal › Article › Academic › peer-review

  4. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

    Research output: Contribution to journal › Article › Academic › peer-review

  5. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

    Research output: Contribution to journal › Article › Academic › peer-review

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Projects

  1. Waterham H.R.: Defects in isoprenoid biosynthesis and peroxisome biogenesis

    Project: Research

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ID: 104558