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Chris de Kruiff

DRS.

  • 49
    Citations
20082026

Research activity per year

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  • Consensus-based follow-up and treatment registry for GNAO1-associated disorder

    Heideman, L. R., Wolf, N. I., Thiel, M., Schieving, J. H., De Kruiff, C., van den Bos, S., Van Heeringen-Broekhuizen, E., Deuring, J. J., Buizer, A. I. & Van De Pol, L. A., 2026, (Accepted/In press) In: Developmental medicine and child neurology.

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

    Open Access
    File
    10 Downloads (Pure)

  • Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

    Asadollahi, R., Ahmad, A., Boonsawat, P., Shahanoor Hinzen, J., Lohse, M., Bouazza-Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K. & Reinson, K. & 130 others, Wojcik, M. H., Marshall, C. R., Mercimek-Andrews, S., Matsumoto, N., Miyake, N., Stephan, B. D. O., Honjo, R. S., Bertola, D. R., Kim, C. A., Yusupov, R., Mefford, H. C., Christodoulou, J., Lee, J., Heath, O., Brown, N. J., Baker, N., Stark, Z., Delatycki, M., Lake, N. J., Zeidler, S., Zuurbier, L., Maas, S. M., de Kruiff, C. C., Rajabi, F., Rodan, L. H., Coury, S. A., Platzer, K., Oppermann, H., Abou Jamra, R., Beblo, S., Maxton, C., Śmigiel, R., Underhill, H., Dubbs, H., Rosen, A., Helbig, K. L., Helbig, I., Ruggiero, S. M., Fitzgerald, M. P., Kraemer, D., Prada, C. E., Tenney, J., Jayakar, P., Redon, S., Lefranc, J. R., Uguen, K., Race, S., Efthymiou, S., Maroofian, R., Houlden, H., Coppens, S., Deconinck, N., Ashokkumar, B., Varalakshmi, P., Gowda K, V. R., Eghbal, F., Ghayoor Karimiani, E., Heidari, M., Neidhardt, J., Owczarek-Lipska, M., Korenke, G. C., Bamshad, M. J., Campeau, P. M., Lehman, A., Hendon, L. G., Wentzensen, I. M., Monaghan, K. G., Chen, Y., Szuto, A., Cohn, R. D., Au, P. Y. B., Hübner, C., Boschann, F., Manickam, K., Koboldt, D. C., Rad, A., Oprea, G., Bachman, K. K., Seeley, A. H., Agolini, E., Terracciano, A., Carmelo, P., Bupp, C., Grysko, B., Rein-Rothschild, A., Ben Zeev, B., Margolin, A., Morrison, J., Dagli, A., Stolerman, E., Louie, R. J., Washington, C., Stevens, S. J. C., Heijligers, M., Alkuraya, F. S., Lisfeld, J., Neu, A., Paoli Monteiro, F., Santos Pessoa, A. L., Camelo-Filho, A. E., Kok, F., Koeberl, D., Riley, K., Burglen, L., Doummar, D., Héron, B. N., Mignot, C., Keren, B., Charles, P., Nava, C., Bernhard, F. P., Kühn, A. A., Thoms, S., Morrie, R. D., Mekhoubad, S., Green, E. M., Barmada, S. J., Gitler, A. D., Jahn, O., Rhee, J. S., Rosenmund, C., Mitkovski, M., Sticht, H., Sun, H., le Gac, G., Taschenberger, H., Brose, N., Dittman, J. S., Rauch, A. & Lipstein, N., 1 Nov 2025, In: Nat. Genet.. 57, 11, p. 2691-2704 14 p.

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

    Open Access
    File
    24 Downloads (Pure)

  • Anticipating the future of the child and family in pediatric palliative care: a qualitative study into the perspectives of parents and healthcare professionals

    Verberne, L. M., Fahner, J. C., Sondaal, S. F. V., Schouten–van Meeteren, A. Y. N., de Kruiff, C. C., van Delden, J. J. M. & Kars, M. C., Mar 2021, In: European journal of pediatrics. 180, 3, p. 949-957 9 p.

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

    Open Access
    File
    18 Downloads (Pure)

  • A Child with Local Lipohypertrophy following Recombinant Human Growth Hormone Administration

    Koppen, I. J., Bakx, R., de Kruiff, C. C. & van Trotsenburg, A. S., 2016, Case Rep Pediatr. 2016/11/03 ed. p. 9648043 1 p. (Case Rep Pediatr; vol. 2016).

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

    Open Access
    File
    8 Downloads (Pure)

  • A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

    Cobben, J. M., Weiss, M. M., van Dijk, F. S., de Reuver, R., de Kruiff, C., Pondaag, W., Hennekam, R. C. & Yntema, H. G., 2014, In: European journal of medical genetics. 57, 11-12, p. 636-638

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

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