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Saskia Maas

DRS.

  • 25
    Citations
20242026

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  • Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

    Rossel, V. S. V. J., van der Velden, J. J. A. J., Janssen, R., Callewaert, B. L., Beyens, A., Morice-Picar, F., Vreeburg, M., van den Akker, P. C., Maas, S. M., Diercks, G. F. H., Gostyński, A. H., Bolling, M. C., Steijlen, P. M., van Gisbergen, M. W. & van Geel, M., 1 Mar 2026, In: Journal of dermatological science. 121, 3, p. 22-31 10 p.

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

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  • 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

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    39 Downloads (Pure)

  • Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases

    Velde, H. M., Vaseghi-Shanjani, M., Smits, J. J., Ramakrishnan, G., Oostrik, J., Wesdorp, M., Astuti, G., Yntema, H. G., Hoefsloot, L., Lanting, C. P., Huynen, M. A., Lehman, A., Turvey, S. E. & DOOFNL Consortium, Nov 2024, In: Human genetics. 143, 11, p. 1379-1399 21 p.

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

    Open Access
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    18 Downloads (Pure)

  • Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

    Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B. N., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A.-M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, J. N., Jech, R., Winkelmann, J., Koprušáková, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C. F., Lerner-Ellis, J., DiTroia, S., Barth, M., Bonneau, D., Krapels, I., Stegmann, A. P. A., van der Schoot, V., Brunet, T., Bußmann, C., Mignot, C., Zampino, G., Wortmann, S. B., Mayr, J. A., Feichtinger, R. G., Courtin, T., Ravelli, C., Keren, B., Ziegler, A., Hasadsri, L., Pichurin, P. N., Klee, E. W., Grand, K., Sanchez-Lara, P. A., Krüger, E., Bézieau, S., Klinkhammer, H., Krawitz, P. M., Eichler, E. E., Tartaglia, M., Küry, S. B. & Wang, T., 2024, (E-pub ahead of print) In: Annals of neurology.

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

    Open Access
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    115 Downloads (Pure)

  • The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

    Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, Vitobello, A., Thauvin-Robinet, C., Faivre, L., Nambot, S., Garde, A., Willems, M., Genevieve, D., Nicolas, G., Busa, T., Toutain, A., Gérard, M., Bizaoui, V., Isidor, B., Merla, G., Accadia, M., Schwartz, C. E., Ounap, K., Hoffer, M. J. V., Nezarati, M. M., van den Boogaard, M.-J. H., Tedder, M. L., Rogers, C., Brusco, A., Ferrero, G. B., Spodenkiewicz, M., Sidlow, R., Mussa, A., Trajkova, S., McCann, E., Mroczkowski, H. J., Jansen, S., Donker-Kaat, L., Duijkers, F. A. M., Stuurman, K. E., Mannens, M. M. A. M., Alders, M., Henneman, P., White, S. M., Sadikovic, B. & van Haelst, M. M., 1 Jun 2024, In: Human genetics. 143, 6, p. 761-773 13 p.

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

    Open Access
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    32 Downloads (Pure)