Amsterdam Reproduction & Development

Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity

Ghaleb, Y. E., Fernández-Quintero, M. L., Campiglio, M., Tuluc, P., Höing, A.-S., Kortüm, F., Motazacker, M. M., Jansen, I. E., Elting, M. W., Plomp, A. S., Fischer, A.-L. M., Siu, V. M., Kutsche, K. & Flucher, B. E., 18 Aug 2025, In: PLoS genetics. 21, 8 August, e1011828.

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., Aug 2025, In: European journal of human genetics. 33, 8, p. 980-988 9 p., 7702.

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

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