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prof. dr. Tjitske Kleefstra

 https://orcid.org/0000-0002-0956-0237

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  • Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

    Shi, Y., Silva, A., Debuy, C., Ghosh, S., McConkey, H., Schot, R., Deng, R., Nikoncuk, A., van Slegtenhorst, M., Hoefsloot, L. H., van Ham, T. J., Simpson, B. N., Miller, D., Pillai, N. R., Holder-Espinasse, M., Almoguera, B., Blanco-Kelly, F., Clowes, V., Yoon, G. & Monteleone, B. & 39 others, Vasquez, J., Pérez de la Fuente, R., Bellido-Cuéllar, S., Barrios-Machain, U., Moreno-Sáez, Y., Steindl, K., Begemann, A., Rauch, A., Busa, T., Gorokhova, S., Lakhani, S., Grinspan, Z., Garde, A., Mau Them, F. T., Bruel, A. L., Delanne, J., Safraou, H., Colin, E., Parikh, A. S., Slavotinek, A., Devine, P., Shillington, A., Sorlin, A., Menzies, D., Mehta, L., Close, C., Heid, C., Ahmed, S. A., Gomes, A., Bird, L. M., Aref-Eshghi, E., Cardona-Londoño, K. J., Arold, S. T., Li, J. M., Hsieh, T. C., Kleefstra, T., Lanko, K., Sadikovic, B. & Barakat, T. S., Sept 2026, In: Genetics in Medicine. 28, 9, 102637.

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

    Open Access
    File
    7 Downloads (Pure)

  • De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity

    Hnízda, A., Martinez-Delgado, B., Sanchez-Ponce, D., Alonso, J., Amiel, J., Attie-Bitach, T., Bada-Navarro, A., Baladron, B., Bermejo-Sanchez, E., Brinsa, V., Buková, I., Cazorla-Calleja, R., Červenková, S., Chow, S., Dušek, P., Fedosieieva, O., Fernandez-Prieto, M., Ghosh, S., Gomez-Mariano, G. & Gřegořová, A. & 50 others, Hamilton, M. J., Hartmannová, H., Hernandez-SanMiguel, E., Herrero-Matesanz, M., Hodaňová, K., Kádek, A., Kerkhof, J., Kleefstra, T., Lacombe, D., Levy, M. A., Lopez-Martin, E., Lyse, R., Man, P., Marin-Reina, P., Macnamara, E. F., McConkey, H., Melenovská, P., Mielu, L. M., Moore, D., Steiner Mrázová, L., Musilová, K., Neffeová, K., Nickl, P., Pajuelo Reguera, D., Pavlíková, M., Pavlovičová, L., Posada, M., Procházka, J., Pysanenko, K., Ramos del Saz, S., Rots, D., Rzasa, J., Sedláček, R., Stránecký, V., Špoutil, F., Tedder, M. L., Thompson, L., Tifft, C. J., Tran Mau-Them, F., Trešlová, H., Vitobello, A., Hilton, S., Campbell, C., Banka, S., Jirák, D., Sadikovic, B., Sikora, J., Kmoch, S., Barrero, M. J. & Nosková, L., 12 Aug 2026, In: Nature Communications. 17, 1, 8203.

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

    Open Access
    File
    3 Downloads (Pure)

  • Astrocytes contribute to olanzapine-mediated reversal of kleefstra syndrome-associated neurodevelopmental regression

    Vermeulen-Kalk, K., Wang, S., Kummeling, J., Mossink, B., Wijnant, K., Gonzales Jiménez, C., Frazier, Z., Rozumny, B., O'Donnell-Luria, A., Hanson, E., Frega, M., Linda, K., Negwer, M., Lendemeijer, B., Oudakker, A., Pop-Purceleanu, M., Janzing, J., van Dongen, L., de Vrij, F. M. & Kushner, S. A. & 9 others, van der Werf, I., Schoenmaker, C., Oomens, W., Srivastava, S., Egger, J. I., van Bokhoven, H., Schubert, D., Nadif Kasri, N. & Kleefstra, T., 30 Jun 2026, In: The Journal of clinical investigation. 136, 16, e195803.

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

    Open Access
    File
    3 Downloads (Pure)

  • A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report

    Rots, D., de Oliveira, B. C., Carvalho, L. M. L., Zhao, X., Sadikovic, B., Sim, T., Rigobello, R., Tedder, M., Donoghue, S., Maripuri, D. P., Hnizda, A., Barr, E., Fletcher, R., Noskova, L., Li, D., Kleefstra, T., Zackai, E. H., Barrero, M. J., Krepischi, A. C. V. & Strong, A., 26 Jun 2026, In: Frontiers in Genetics. 17, 11 p., 1824138.

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

    Open Access
    File
    3 Downloads (Pure)

  • A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

    Wang, M., Helal, S., Torabi-Marashi, A., Goodman, S., Kallurkar, P., Truong, T. K., Mizrahi-Powell, E., Evrony, G. D., Chacon-Fonseca, I., Valenzuela Palafoll, I., Kannu, P., Piton, A., Chitayat, D., Boerkoel, C. F., Mendoza-Londono, R., Ortigoza-Escobar, J. D., Kwint, M., Rots, D., Kleefstra, T. & Wojcik, M. H. & 7 others, Scherer, S. W., Hon-Yin Chung, B., Ko, J. M., Bjornsson, H. T., Harris, J. R., Choufani, S. & Weksberg, R., 4 Jun 2026, In: American Journal of Human Genetics. 113, 6, p. 1233-1252 20 p.

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

    1 Citation (Scopus)
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