Saskia Maas

DRS.

ANS - Cellular & Molecular Mechanisms ANS - Complex Trait Genetics Affiliatie UvA Medical Specialist, Human Genetics

Specialization

Focus of research

Latest publications

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
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
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., Kalish, J. M. & Menke, L. A., Aug 2025, In: American Journal of Medical Genetics. Part A. 197, 8, p. e64073 e64073.
Research output: Contribution to journal › Article › Academic › peer-review
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Saskia Maas

Specialization

Focus of research

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

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

Growth Charts for Children With Beckwith-Wiedemann Spectrum

Research Institutes

Researchers

About Amsterdam UMC Research

News

Research Roadmap

Core facilities

Research Support

Doctoral school

Saskia Maas

Specialization

Focus of research

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

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

Growth Charts for Children With Beckwith-Wiedemann Spectrum

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