Personal profile
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
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Collaborations and top research areas from the last five years
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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
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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
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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
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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
Open AccessFile17 Downloads (Pure) -
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
Open AccessFile22 Downloads (Pure)