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Lab. DNA Diagnostics

Collaborations and top research areas from the last five years

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  • 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 Access
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    20 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 Access
    File
    7 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, Kelley, W. V., Zhao, J., Feng, W., Ren, C., Yu, Y., Boczek, N. J., Ferber, M. J., Lahner, C., Elliott, S., Ruan, Y., Mignot, C., Keren, B., Xie, H., Wang, X., Popp, B., Zweier, C., Piard, J., Coubes, C., Mau-Them, F. T., Safraou, H., Innes, A. M., Gauthier, J., Michaud, J. L., Koboldt, D. C., Sylvie, O., Willems, M., Tan, W. H., Cogne, B., Rieubland, C., Braun, D., McLean, S. D., Platzer, K., Zacher, P., Oppermann, H., Evenepoel, L., Blanc, P., El Khattabi, L., Haque, N., Dsouza, N. R., Zimmermann, M. T., Urrutia, R., Klee, E. W., Shen, Y., Du, H., Rappaport, L., Liu, C. M. & Chen, X., 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 Access
    File
    7 Downloads (Pure)
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