20062019
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Research Output 2006 2019

  • 137 Article
  • 4 Chapter
  • 4 Research VU University Amsterdam, graduation VU University Amsterdam
  • 1 Research external, graduation VU University Amsterdam

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Friedman, J., Smith, D. E., Issa, M. Y., Stanley, V., Wang, R., Mendes, M. I., Wright, M. S., Wigby, K., Hildreth, A., Crawford, J. R., Koehler, A. E., Chowdhury, S., Nahas, S., Zhai, L., Xu, Z., Lo, W-S., James, K. N., Musaev, D., Accogli, A., Guerrero, K. & 9 othersTran, L. T., Omar, T. E. I., Ben-Omran, T., Dimmock, D., Kingsmore, S. F., Salomons, G. S., Zaki, M. S., Bernard, G. & Gleeson, J. G., 1 Dec 2019, In : Nature Communications. 10, 1, 707.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Theil, A. F., Botta, E., Raams, A., Smith, D. E. C., Mendes, M. I., Caligiuri, G., Giachetti, S., Bione, S., Carriero, R., Liberi, G., Zardoni, L., Swagemakers, S. M. A., Salomons, G. S., Sarasin, A., Lehmann, A., van der Spek, P. J., Ogi, T., Hoeijmakers, J. H. J., Vermeulen, W. & Orioli, D., 2019, In : American journal of human genetics. 105, 2, p. 434-440

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 othersSalomons, G. S. & Mochel, F., 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Kuo, M. E., Theil, A. F., Kievit, A., Malicdan, M. C., Introne, W. J., Christian, T., Verheijen, F. W., Smith, D. E. C., Mendes, M. I., Hussaarts-Odijk, L., van der Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, Y. M., Gahl, W. A. & 3 othersAntonellis, A., Salomons, G. S. & Mancini, G. M. S., 2019, In : American journal of human genetics. 104, 3, p. 520-529

Research output: Contribution to journalArticleAcademicpeer-review

Open Access