Projects per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
-
van Kuilenburg A.B.P.: Inborn errors of purine and pyrimidine metabolism and pediatric oncological diseases
Besancon, O. G., van Kuilenburg, A., Leen, R., Jansen - Meijer, J., Meinsma, R. R. & van Staveren, M.
1/06/2016 → …
Project: Research
Research output
- 30 Article
-
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
Fazal, S., Danzi, M. C., van Kuilenburg, A. B. P., Reich, S., Trasch?tz, A., Bender, B., Leen, R., Toro, C., Usdin, K., Hayward, B., Adams, D. R., van Karnebeek, C. D. M., Ferreira, C. R., D'Sousa, P., Network, U. D., Tekin, M., Z?chner, S. & Synofzik, M., 1 Jan 2023, In: Human Molecular Genetics. 32, 1, p. 46-54 9 p.Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus) -
Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma
Verly, I. R. N., Matser, Y. A. H., Leen, R., Meinsma, R., Fiocco, M., Koster, J., Volckmann, R., Savci-Heijink, D., Cangemi, G., Barco, S., Valentijn, L. J., Tytgat, G. A. M. & van Kuilenburg, A. B. P., 2022, In: JCO Precision Oncology. 6, e2000447.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients
Verly, I. R. N., Leen, R., Meinsma, J. R., Hooijer, G. K. J., Savci-Heijink, C. D., van Nes, J., Broekmans, M., Wanders, R. J. A., van Kuilenburg, A. B. P. & Tytgat, G. A. M., 1 Apr 2019, In: European Journal of Cancer. 111, p. 21-29Research output: Contribution to journal › Article › Academic › peer-review
14 Citations (Scopus) -
DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering
Milanese, C., Bombardieri, C. N. R., Sepe, S., Barnhoorn, S., Payán-Goméz, C. S., Caruso, D., Audano, M., Pedretti, S., Vermeij, W. P., Brandt, R. M. C., Gyenis, A., Wamelink, M. M., de Wit, A. S., Janssens, R. C., Leen, R., van Kuilenburg, A. B. P., Mitro, N., Hoeijmakers, J. H. J. & Mastroberardino, P. G., 1 Dec 2019, In: Nature communications. 10, 1, p. 4887 4887.Research output: Contribution to journal › Article › Academic › peer-review
Open Access27 Citations (Scopus) -
Glutaminase deficiency caused by short tandem repeat expansion in GLS
van Kuilenburg, A. B. P., Tarailo-Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand-Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., Hayward, B., Jones, M. J., Karbassi, F., Kobor, M. S., Koster, J., Kumari, D., Li, M., MacIsaac, J., McDonald, C., Meijer, J., & 25 others, 11 Apr 2019, In: New England journal of medicine. 380, 15, p. 1433-1441 9 p.Research output: Contribution to journal › Article › Academic › peer-review
46 Citations (Scopus)