1. Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility

   Yeshaw, W. M., van der Zwaag, M., Pinto, F., Lahaye, L. L., Faber, A. I., Gómez-Sánchez, R., Dolga, A. M., Poland, C., Monaco, A. P., van IJzendoorn, S., Grzeschik, N. A., Velayos-Baeza, A. & Sibon, O. C., 11-Feb-2019, In : eLife. 8, 37 p., 43561.

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

2. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

   Iuso, A., Wiersma, M., Schüller, H-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N. A., Okun, J. G., Perles, Z., Salem, Y., Barel, O., Vardi, A., Rubinshtein, M., Tirosh, T., Dubnov-Raz, G., Messias, A. C., Terrile, C., Barshack, I., Volkov, A., Avivi, C., Eyal, E., Mastantuono, E., Kumbar, M., Abudi, S., Braunisch, M., Strom, T. M., Meitinger, T., Hoffmann, G. F., Prokisch, H., Haack, T. B., Brundel, B. J. J. M., Haas, D., Sibon, O. C. M. & Anikster, Y., 7-Jun-2018, In : American Journal of Human Genetics. 102, 6, p. 1018-1030 13 p.

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

3. Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

   Di Meo, I., Colombelli, C., Srinivasan, B., de Villiers, M., Hamada, J., Jeong, S. Y., Fox, R., Woltjer, R. L., Tepper, P. G., Lahaye, L. L., Rizzetto, E., Harrs, C. H., de Boer, T., van der Zwaag, M., Jenko, B., Čusak, A., Pahor, J., Kosec, G., Grzeschik, N. A., Hayflick, S. J., Tiranti, V. & Sibon, O. C. M., 12-Sep-2017, In : Scientific Reports. 7, 1, 12 p., 11260.

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

4. A Kinome RNAi Screen in Drosophila Identifies Novel Genes Interacting with Lgl, aPKC, and Crb Cell Polarity Genes in Epithelial Tissues

   Parsons, L. M., Grzeschik, N. A., Amaratunga, K., Burke, P., Quinn, L. M. & Richardson, H. E., 1-Aug-2017, In : G3 : Genes, Genomes, Genetics. 7, 8, p. 2497-2509 13 p.

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

5. Note of concern: Guanine quadruplex structures localize to heterochromatin

   Hoffmann, R. F., Moshkin, Y. M., Mouton, S., Grzeschik, N. A., Kalicharan, R. D., Kuipers, J., Wolters, A. H. G., Nishida, K., Romashchenko, A. V., Postberg, J., Lipps, H., Berezikov, E., Sibon, O. C. M., Giepmans, B. N. G. & Lansdorp, P. M., 2-Jun-2017, In : Nucleic Acids Research. 45, 10, p. 6253-6253 1 p.

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

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