1. 2021
  2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Undiagnosed Diseases Network, Apr 2021, In: Genetics in medicine. 23, 4, p. 740-750 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

    Ferdinandusse, S., McWalter, K., te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E., & 31 othersPerlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L., Alejandro, M. E., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H-T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Undiagnosed Diseases Network, Zwijnenburg, P. J. G., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., 2021, (E-pub ahead of print) In: Genetics in medicine.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  4. 2020
  5. Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

    Wegrzyn, A. B., Herzog, K., Gerding, A., Kwiatkowski, M., Wolters, J. C., Dolga, A. M., van Lint, A. E. M., Wanders, R. J. A., Waterham, H. R. & Bakker, B. M., Dec 2020, In: FEBS journal. 287, 23, p. 5096-5113 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

ID: 98245