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Saskia Maas

DRS.

  • 5419
    Citations
1989 …2025

Research activity per year

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Collaborations and top research areas from the last five years

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  • 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

    Open Access
    File
    28 Downloads (Pure)

  • 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

    Open Access
    File
    26 Downloads (Pure)

  • 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

    Open Access
    File
    24 Downloads (Pure)

  • Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

    Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., Nov 2024, In: European journal of human genetics. 32, 11, p. 1387-1401 15 p.

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

    Open Access
    File
    47 Downloads (Pure)

  • GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

    Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., Aug 2024, In: Clinical Obesity. 14, 4, e12661.

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

    Open Access
    File
    31 Downloads (Pure)
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