Saskia van der Crabben

DR.

20142019

Research output per year

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Research Output

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 1 Feb 2019, In : Genetics in Medicine. 21, 2, p. 319-330

Research output: Contribution to journalArticleAcademicpeer-review

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 2019, In : Nature Communications. 10, 1, 1477.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Van Der Crabben, S. N., Hennus, M. P., McGregor, G. A., Ritter, D. I., Nagamani, S. C. S., Wells, O. S., Harakalova, M., Chinn, I. K., Alt, A., Vondrova, L., Hochstenbach, R., Van Montfrans, J. M., Terheggen-Lagro, S. W., Van Lieshout, S., Van Roosmalen, M. J., Renkens, I., Duran, K., Nijman, I. J., Kloosterman, W. P., Hennekam, E. & 10 others, Orange, J. S., Van Hasselt, P. M., Wheeler, D. A., Palecek, J. J., Lehmann, A. R., Oliver, A. W., Pearl, L. H., Plon, S. E., Murray, J. M. & Van Haaften, G., 1 Aug 2016, In : Journal of Clinical Investigation. 126, 8, p. 2881-2892 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

van der Crabben, S. N., Harakalova, M., Brilstra, E. H., van Berkestijn, F. M. C., Hofstede, F. C., van Vught, A. J., Cuppen, E., Kloosterman, W., Ploos van Amstel, H. K., van Haaften, G. & van Haelst, M. M., Jan 2014, In : American Journal of Medical Genetics Part A. 164A, 1, p. 29-35 7 p.

Research output: Contribution to journalReview articleAcademicpeer-review