Amsterdam Neuroscience

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

Sulfate: a neglected (but potentially highly relevant) anion

den Bakker, E., Smith, D. E. C., Finken, M. J. J., Wamelink, M. M. C., Salomons, G. S., van de Kamp, J. M. & Bökenkamp, A., 4 Dec 2024, In: Essays in biochemistry. 68, 4, p. 391-399 9 p.

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

The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

Colbert, B. M., Lanting, C., Smeal, M., Blanton, S., Dykxhoorn, D. M., Tang, P.-C., Getchell, R. L., Velde, H., Fehrmann, M., Thorpe, R., Chapagain, P., Elkhaligy, H., Kremer, H., Yntema, H., Haer-Wigman, L., Redfield, S., Sun, T., Bruijn, S., Plomp, A. & Goderie, T. & 28 others, van de Kamp, J., Free, R. H., Wassink-Ruiter, J. K., Widdershoven, J., Vanhoutte, E., Rotteveel, L., Kriek, M., van Dooren, M., Hoefsloot, L., de Gier, H. H. W., Schaefer, A., Kolbe, D., Azaiez, H., Rabie, G., Aburayyan, A., Kawas, M., Kanaan, M., Holder, J., Usami, S.-I., Chen, Z., Dai, P., Holt, J., Nelson, R., Choi, B. Y., Shearer, E., Smith, R. J. H., Pennings, R. & Liu, X. Z., May 2024, In: Human genetics. 143, 5, p. 721-734 14 p.

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