Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Waterham H.R.: Defects in isoprenoid biosynthesis and peroxisome biogenesis
Falkenberg, K., Herzog, K., Klouwer, F., Waterham, H., Wanders, R., Koster, J. & Turkenburg, M.
1/01/2006 → …
Project: Research
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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S-A., Cooper, N., Ong, K. R., Smith, C. E. L., & 11 others , 2015, In: American journal of human genetics. 97, 4, p. 535-545Research output: Contribution to journal › Article › Academic › peer-review
96 Citations (Scopus) -
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A. & Waterham, H. R., 2011, In: Human mutation. 32, 1, p. 59-69Research output: Contribution to journal › Article › Academic › peer-review
117 Citations (Scopus) -
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene
Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A. & Waterham, H. R., 2012, In: Journal of medical genetics. 49, 5, p. 307-313Research output: Contribution to journal › Article › Academic › peer-review
111 Citations (Scopus) -
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Barøy, T., Koster, J., Strømme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., Woldseth, B., Walter, J., Wood, N., Tvedt, B., Stadskleiv, K., Wanders, R. J. A., Waterham, H. R. & Frengen, E., 2015, In: Human Molecular Genetics. 24, 20, p. 5845-5854Research output: Contribution to journal › Article › Academic › peer-review
64 Citations (Scopus) -
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A. & Waterham, H. R., 2017, In: Journal of medical genetics. 54, 5, p. 330-337Research output: Contribution to journal › Article › Academic › peer-review
82 Citations (Scopus)