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dr. Shimriet Zeidler

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  • Epilepsy as a Novel Phenotype of BPTF-Related Disorders

    Ferretti, A., Furlan, M., Glinton, K. E., Fenger, C. D., Boschann, F., Amlie-Wolf, L., Zeidler, S., Moretti, R., Stoltenburg, C., Tarquinio, D. C., Furia, F., Parisi, P., Rubboli, G., Devinsky, O., Mignot, C., Gripp, K. W., Møller, R. S., Yang, Y., Stankiewicz, P. & Gardella, E., Sept 2024, In: Pediatric Neurology. 158, p. 17-25 9 p.

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

    Open Access
    File
    2 Citations (Scopus)
    1 Downloads (Pure)

  • PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

    Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., Toutain, B., Poirier, L., Cuinat, S., Kritzer, A., Crunk, A., diMonda, J., Vengoechea, J., Mercier, S., Kleinendorst, L. & van Haelst, M. M. & 27 others, Zuurbier, L., Sulem, T., Katrínardóttir, H., Friðriksdóttir, R., Sulem, P., Stefansson, K., Jonsdottir, B., Zeidler, S., Sinnema, M., Stegmann, A. P. A., Naveh, N., Skraban, C. M., Gray, C., Murrell, J. R., Isikay, S., Pehlivan, D., Calame, D. G., Posey, J. E., Nizon, M., McWalter, K., Lupski, J. R., Isidor, B., Bolduc, F. V., Bézieau, S., Krüger, E., Küry, S. & Ebstein, F., 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1352-1369 18 p.

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

    Open Access
    File
    3 Citations (Scopus)
    6 Downloads (Pure)

  • 5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

    Liepina, L., Smith, D. E. C., Huidekoper, H., Zeidler, S., Wamelink, M., de Wit, M. C., Wilke, M., Ruijter, G., Bierau, J. & Blom, H. J., Mar 2024, In: JIMD Reports. 65, 2, p. 49-55 7 p.

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

    Open Access
    File
    1 Citation (Scopus)
    31 Downloads (Pure)

  • Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

    Buijsse, N., Jansen, F. E., Ockeloen, C. W., van Kempen, M. J. A., Zeidler, S., Willemsen, M. H., Scarano, E., Monticone, S., Zonneveld-Huijssoon, E., Low, K. J., Bayat, A., Sisodiya, S. M., Samanta, D., Lesca, G., de Jong, D., Giltay, J. C., Verbeek, N. E., Kleefstra, T., Brilstra, E. H. & Vlaskamp, D. R. M., Dec 2023, In: Epilepsia Open. 8, 4, p. 1300-1313 14 p.

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

    Open Access
    File
    7 Citations (Scopus)
    109 Downloads (Pure)

  • Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

    Liu, Z., Xin, B., Smith, I., Sency, V., Szekely, J., Alkelai, A., Shuldiner, A., Efthymiou, S., Rajabi, F., Coury, S., Brownstein, C., Rudnik-Schoeneborn, S., Bruel, A., Thevenon, J., Zeidler, S., Jayakar, P., Schmidt, A., Cremer, K., Engels, H. & Peters, S. & 34 others, Zaki, M., Duan, R., Zhu, C., Xu, Y., Gao, C., Sepulveda-Morales, T., Maroofian, R., Alkhawaja, I., Khawaja, M., Alhalasah, H., Houlden, H., Madden, J., Turchetti, V., Marafi, D., Agrawal, P., Schatz, U., Rotenberg, A., Rotenberg, J., Mancini, G., Bakhtiari, S., Kruer, M., Thiffault, I., Hirsch, S., Hempel, M., Stuehn, L., Haack, T., Posey, J., Lupski, J., Lee, H., Sarn, N., Eng, C., Gonzaga-Jauregui, C., Zhang, B. & Wang, H., 15 Oct 2023, In: Human Molecular Genetics. 32, 20, p. 2981-2995 15 p., e907.

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

    3 Citations (Scopus)
View all 18 research outputs