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Research Output

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 others, Tran, 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

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 others, Salomons, G. S. & Mochel, F., 12 Mar 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., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

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 others, Antonellis, A., Salomons, G. S. & Mancini, G. M. S., 7 Mar 2019, In : American journal of human genetics. 104, 3, p. 520-529

Research output: Contribution to journalArticleAcademicpeer-review

Open Access