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prof. dr. Tjitske Kleefstra

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

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  • Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

    Zdolšek Draksler, T., Bouman, A., Guček, A., Novak, E., Burger, P., Colin, F. & Kleefstra, T., Dec 2024, In: European Journal of Medical Genetics. 72, 104974.

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

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

  • Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

    Demidov, G., Yaldiz, B., Garcia-Pelaez, J., Solve-RD Consortium, de Boer, E., Schuermans, N., Van de Vondel, L., Paramonov, I., Johansson, L. F., Musacchia, F., Benetti, E., Bullich, G., Sablauskas, K., Beltran, S., Gilissen, C., Hoischen, A., Ossowski, S., de Voer, R., Lohmann, K. & Oliveira, C. & 4 others, Topf, A., Vissers, L. E. L. M., van Heurck, R. & Scudieri, P., 26 Oct 2024, In: npj Genomic Medicine. 9, 1, 49.

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

    Open Access
    File

  • Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

    Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., PIARD, J., Coubes, C., Lam, W., Lynch, S. A., Samuel, G., Ramond, F., Fluss, J., Fagerberg, C., Brasch Andersen, C., Varvagiannis, K., Kleefstra, T. & Gérard, B. & 18 others, Fradin, M., Vitobello, A., Tenconi, R., Denommé-Pichon, A. S., Vincent-Devulder, A., Haack, T., Marsh, J. A., Laulund, L. W., Grimmel, M., Riess, A., de Boer, E., Padilla-Lopez, S., Bakhtiari, S., Kruer, M. C., Levy, J., Verloes, A., Abbott, C. M. & Ruaud, L., Sept 2024, In: European Journal of Human Genetics. 32, 9, p. 1144-1149 6 p.

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

    3 Citations (Scopus)

  • Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

    Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H. & Kuechler, A. & 72 others, Elffers, B., van Beeck Calkoen, R., Hofman, S., Smith, A., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S. M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., O'Connor, M., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Muir, A. M., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1605-1625 21 p.

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

    4 Citations (Scopus)

  • Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

    Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S. M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W. & 84 others, Diets, I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T., Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C., Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M., Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E., Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E., Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B., Guimier, A., Marijon, P., de Vries, B. B. A., Motter, C. S., Mendelsohn, B. A., Coffino, S., Gerkes, E. H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E., Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H., Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M. J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu, J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S., Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H., Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey, I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman, A., Roifman, M., Amorós Rodríguez, M. I., Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R. & Banka, S., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1626-1642 17 p.

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

    1 Citation (Scopus)
View all 9 research outputs