Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
Hop, P. J., Kooyman, M., Kenna, B. J., Zwamborn, R. A. J., van Eijk, K. R., Wang, Y., van Dijk, C. H., Bekema, E., van Rheenen, W., Beele, P., van Vugt, J. J. F. A., de Carvalho, M., van den Berg, L. H., Van Damme, P., Smith, B. N., Khleifat, A. A., Iacoangeli, A., Cooper-Knock, J., Smith, B. N. & Topp, S. & 34 others, , Apr 2026, In: Nature genetics. 58, 4, p. 717-725 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Zwartkruis, M. M., de Pagter, M. S., Gommers, D., Koopmans, M., Ottenheim, C. P. E., Kortooms, J. V., Albring, M., Elferink, M. G., Wadman, R. I., Asselman, F.-L., Cuppen, I., van der Pol, W. L., Nelen, M. R., van Haaften, G. W. & Groen, E. J. N., 15 May 2025, In: Human molecular genetics. 34, 10, p. 894–904 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Zwartkruis, M. M., Kortooms, J. V., Gommers, D., Elferink, M. G., Signoria, I., van der Sel, J., Hop, P. J., Zwamborn, R. A. J., Geene, R., Green, J. W., van Deutekom, H. W. M., van Rheenen, W., Veldink, J. H., Asselman, F. L., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 16 May 2025, In: iScience. 28, 5, 112461.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Downloads (Pure) -
Dynamic modulation of the motor neuron translatome during developmental synapse elimination
van der Hoorn, D., Lauria, F., Chaytow, H., Faller, K. M. E., Huang, Y.-T., Kline, R. A., Signoria, I., Morris, K., Wishart, T. M., Groen, E. J. N., Viero, G. & Gillingwater, T. H., 15 Apr 2025, In: Science Signaling [E]. 18, 882, 12 p., eadr0176.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Further Comments on Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy
Wadman, R. I., Groen, E. J. N. & van der Pol, W. L., 2 Jul 2025, In: The New England journal of medicine. 393, 1, 103.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open AccessFile4 Downloads (Pure)