Amsterdam Neuroscience

Growth Charts for Children With Beckwith-Wiedemann Spectrum

Maas, S. M., Lauffer, P., Cocchi, G., DeMarchis, M., George, A. M., Mussa, A., Pellegrino, F., Spaans, A. M. J., van den Brink, E. C., Wit, J. M., Menke, L. A. & Kalish, J. M., Aug 2025, In: American Journal of Medical Genetics. Part A. 197, 8, p. e64073 e64073.

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

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.

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