Amsterdam institute for Immunology and Infectious diseases

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

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