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Desiree Smith

Person: Academic


Research Output 1999 2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 1 Aug 2019, In : American journal of human genetics. 105, 2, p. 434-440

Research output: Contribution to journalArticleAcademicpeer-review