Desiree Smith

DR.ING.

20072019
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Research Output 2007 2019

  • 26 Article
  • 1 Meeting Abstract
  • 1 Research VU University Amsterdam, 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., 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

Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia

Oosterom, N., de Jonge, R., Smith, D. E. C., Pieters, R., Tissing, W. J. E., Fiocco, M., van Zelst, B. D., van den Heuvel-Eibrink, M. M. & Heil, S. G., 2019, In : PLoS ONE. 14, 9, e0221591.

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