Research output per year
Research output per year
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
-
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 AccessFile11 Downloads (Pure) -
Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype
van Ommeren, B., Hoekstra, M., van Gassen, K., van Jaarsveld, R., van Haaften, G., Mathijssen, I., Dammers, R., van Veelen, M. L., Baars, R. & Giltay, J., Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63870.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Gong, M., Li, J., Qin, Z., Machado Bressan Wilke, M. V., Liu, Y., Li, Q., Liu, H., Liang, C., Morales-Rosado, J. A., Cohen, A. S. A., Hughes, S. S., Sullivan, B. R., Waddell, V., van den Boogaard, M. J. H., van Jaarsveld, R. H., van Binsbergen, E., van Gassen, K. L., Wang, T., Hiatt, S. M. & Amaral, M. D. & 47 others, , 7 Nov 2024, In: American Journal of Human Genetics. 111, 11, p. 2392-2410 19 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Downloads (Pure)