Skip to main navigation Skip to search Skip to main content
No photo of Klaske Lichtenbelt

View Scopus Profile

Klaske Lichtenbelt

dr.

 https://orcid.org/0000-0002-6370-9207
    20022026

    Research activity 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
    Explore network further

    • A novel spliceosomopathy caused by de novo SF3B3 variants

      Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A. & Hildebrandt, C. C. & 29 others, Chan, Y.-M., Groopman, E., Berkenstadt, M., Koboldt, D., Williamson, R., Brunner, H. G., Vissers, L. E., Torring, P. M., Hao, Q., Gelb, B. D., Goldmuntz, E., Reed, K., Bedoukian, E. C., Vecchio, D., Salzano, E., Piccione, M., Zanus, C., Mio, C., Eichler, E. E., Wang, T., Patterson, W. G., Butler, K. M., Piotrowski, M., Mercier, S., Cogné, B., Wentzensen, I. M., Buratti, E., Magistrato, A. & Faletra, F., 27 Mar 2026, In: Genome Medicine. 18, 1, 34.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
      File

    • De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

      Anderson, E. N., Drukewitz, S., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O'Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., Chatron, N., Monin, P., Drunat, S., Vial, Y., Latypova, X., Levy, J. & Verloes, A. & 31 others, Carter, J. N., Bonner, D. E., Shankar, S. P., Bernstein, J. A., Cohen, J. S., Comi, A., Carere, D. A., Dyer, L. M., Mullegama, S. V., Sanchez-Lara, P. A., Grand, K., Kim, H.-G., Ben-Mahmoud, A., Gospe, S. M., Belles, R. S., Bellus, G., Lichtenbelt, K. D., Oegema, R., Rauch, A., Ivanovski, I., Mau-Them, F. T., Garde, A., Rabin, R., Pappas, J., Bley, A. E., Bredow, J., Wagner, T., Decker, E., Bergmann, C., Domenach, L. & Undiagnosed Diseases Network, 8 Jan 2026, In: American Journal of Human Genetics. 113, 1, p. 100-116 17 p.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
      File
      2 Downloads (Pure)

    • Evaluation of a web-based decision aid for couples at risk of transmitting a genetic disease: a randomized controlled trial

      Engbersen-Severijns, Y., de Die-Smulders, C. E. M., Bijlsma, E. K., Corsten-Janssen, N., Houwink, E. J. F., Joosten, S. J. R., van Kuijk, S. M. J., Lichtenbelt, K. D., Ottenheim, C. P. E., Scheepers, H. C. J., Stuurman, K. E., Tan-Sindhunata, M. B., Van Vliet-Lachotzki, E. H., de Vries, H., van der Weijden, G. D. E. M. & van Osch, L. A. D. M., Apr 2026, In: Reproductive Biomedicine Online. 52, 4, 105273.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
      File
      3 Downloads (Pure)

    • De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

      Anderson, E. N., Drukewitz, S., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O'Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., Chatron, N., Monin, P., Drunat, S., Vial, Y., Latypova, X., Levy, J. & Verloes, A. & 31 others, Carter, J. N., Bonner, D. E., Shankar, S. P., Bernstein, J. A., Cohen, J. S., Comi, A., Alexis Carere, D., Dyer, L. M., Mullegama, S. V., Sanchez-Lara, P. A., Grand, K., Kim, H.-G., Ben-Mahmoud, A., Gospe, S. M., Belles, R. S., Bellus, G., Lichtenbelt, K. D., Oegema, R., Rauch, A., Ivanovski, I., Tran Mau-Them, F., Garde, A., Rabin, R., Pappas, J., Bley, A. E., Bredow, J., Wagner, T., Decker, E., Bergmann, C., Domenach, L. & Undiagnosed Diseases Network, 1 Apr 2025, medRxiv, 51 p.

      Research output: Working paper › Preprint › Academic

      File
      36 Downloads (Pure)

    • Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract

      on behalf of the ArtDECO consortium, Mar 2025, In: Pediatric Nephrology. 40, 3, p. 685-699 15 p.

      Research output: Contribution to journal › Review article › peer-review

      Open Access
      File
      28 Downloads (Pure)
    View all 87 research outputs
    • 13 Oral presentation
    • 3 Participation in workshop, seminar, course
    • 1 Participation in conference
    View all 17 activities