Amsterdam Reproduction & Development

AUTS2-related syndrome: Insights from a large European cohort

Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A. & Sorlin, A. & 55 others, Stieber, D., Herissant, L., Dahan, K., Sinibaldi, L., Capolino, R., Dentici, M. L., Dallapiccola, B., Novelli, A., Garavelli, L., Caraffi, S. G., Piatelli, G., Valenzuela, I., Digilio, M. C., Caumes, R., Knopp, C., Chwiałkowska, K., Jezela-Stanek, A., Kwasniewski, M., Korotko, U., Gorzałczyńska, E., Canitano, R., Grosso, S., Rahikkala, E., Mattern, L., Elbracht, M., Zuffardi, O., Caputo, V., Toschi, B., Beunders, G., Leeuwen, L., Elting, M. W., van der Laan, L., Broekema, M. F., Groffen, A. J., van de Kamp, J. M., van Haelst, M. M., Alders, M., Mauro, S. P., de Razza, F., Varvara, D., Kick, J., Gaspar, H., Braun, D., Lausberg, E., Maier, A., Ruault, V., Genesio, R., Tartaglia, M., Tita, R., Bruttini, M., Longo, I., Baldassarri, M., Mencarelli, M. A., Renieri, A. & Pinto, A. M., 1 Jun 2025, In: Genetics in Medicine. 27, 6, 101375.

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

Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic

van der Lee, S. J., Hulsman, M., van Spaendonk, R., van der Schaar, J., Dijkstra, J., Tesi, N., van Ruissen, F., Elting, M., Reinders, M., de Rojas, I., Verschuuren-Bemelmans, C. C., van der Flier, W. M., van Haelst, M. M., de Geus, C., Pijnenburg, Y. & Holstege, H., 27 Jan 2025, In: Neurology. 104, 4, e210273.

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

DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

Kennis, M. G. P., Rots, D., Bouman, A., Ockeloen, C. W., Boelen, C., Marcelis, C. L. M., de Vries, B. B. A., Elting, M. W., Waisfisz, Q., Suri, M., Font-Montgomery, E., Peck, D. S., Donnelly, D. E., Rogers, R. C., Richardson, R., Caumes, R., Chaumette, B., Louveau, C. C., Sallevelt, S. C. E. H. & Maas, S. M. & 8 others, Smits, J. J., van Haelst, M. M., Levy, R. J., Stewart, H., Loeys, B. L., Pfundt, R., Kleefstra, T. & Snijders Blok, L., 2025, (E-pub ahead of print) In: European journal of human genetics. 7702.

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