Renske Oegema

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Renske Oegema, MSc

dr.

 https://orcid.org/0000-0002-7146-617X
    20102025

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    • 2025

      De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

      Anderson, E. N., Drukewitz, S., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O'Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., Chatron, N., Monin, P., Drunat, S., Vial, Y., Latypova, X., Levy, J. & Verloes, A. & 31 others, Carter, J. N., Bonner, D. E., Shankar, S. P., Bernstein, J. A., Cohen, J. S., Comi, A., Alexis Carere, D., Dyer, L. M., Mullegama, S. V., Sanchez-Lara, P. A., Grand, K., Kim, H.-G., Ben-Mahmoud, A., Gospe, S. M., Belles, R. S., Bellus, G., Lichtenbelt, K. D., Oegema, R., Rauch, A., Ivanovski, I., Tran Mau-Them, F., Garde, A., Rabin, R., Pappas, J., Bley, A. E., Bredow, J., Wagner, T., Decker, E., Bergmann, C., Domenach, L. & Undiagnosed Diseases Network, 1 Apr 2025, medRxiv, 51 p.

      Research output: Working paper › Preprint › Academic

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    • 2024

      GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

      Lesmann, H., Hustinx, A., Moosa, S., Klinkhammer, H., Marchi, E., Caro, P., Abdelrazek, I. M., Pantel, J. T., Hagen, M. T., Thong, M.-K., Binti Mazlan, R. A., Tae, S. K., Kamphans, T., Meiswinkel, W., Li, J.-M., Javanmardi, B., Knaus, A., Uwineza, A., Knopp, C. & Tkemaladze, T. & 31 others, Elbracht, M., Mattern, L., Jamra, R. A., Velmans, C., Strehlow, V., Jacob, M., Peron, A., Dias, C., Nunes, B. C., Vilella, T., Pinheiro, I. F., Kim, C. A., Melaragno, M. I., Weiland, H., Kaptain, S., Chwiałkowska, K., Kwasniewski, M., Saad, R., Wiethoff, S., Goel, H., Tang, C., Hau, A., Barakat, T. S., Panek, P., Nabil, A., Suh, J., Braun, F., Gomy, I., Averdunk, L., Oegema, R. & Hellen Lesmann, 10 Jun 2024, Research Square, 51 p. (Research square).

      Research output: Working paper › Preprint › Academic

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      1 Downloads (Pure)

    • Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

      Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F., Möller, S., Florenceau, L., Cuinat, S. & Marsac, S. & 111 others, Wentzensen, I., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., Bonneau, D., Torti, E., Begtrup, A., Monaghan, K. G., Mullegama, S. V., Volker-Touw, C. M. L. N., van Gassen, K. L. I., Oegema, R., de Pagter, M., Steindl, K., Rauch, A., Ivanovski, I., McDonald, K., Boothe, E., Dauber, A., Baker, J., Fabie, N. A. V., Bernier, R. A., Turner, T. N., Srivastava, S., Dies, K. A., Swanson, L., Costin, C., Jobling, R. K., Pappas, J., Rabin, R., Niyazov, D., Tsai, A.C.-H., Kovak, K., Beck, D. B., Malicdan, M., Adams, D. R., Wolfe, L., Ganetzky, R. D., Muraresku, C., Babikyan, D., Sedláček, Z., Hančárová, M., Timberlake, A. T., Al Saif, H., Nestler, B., King, K., Hajianpour, M. J., Costain, G., Prendergast, D., Li, C., Geneviève, D., Vitobello, A., Sorlin, A., Philippe, C., Harel, T., Toker, O., Sabir, A., Lim, D., Hamilton, M., Bryson, L., Cleary, E., Weber, S., Hoffman, T. L., Cueto-González, A. M., Tizzano, E. F., Gómez-Andrés, D., Codina-Solà, M., Ververi, A., Pavlidou, E., Lambropoulos, A., Garganis, K., Rio, M., Levy, J., Jurgensmeyer, S., McRae, A. M., Lessard, M. K., D'Agostino, M. D., De Bie, I., Wegler, M., Jamra, R. A., Kamphausen, S. B., Bothe, V., Busch, L. M., Völker, U., Hammer, E., Wende, K., Cogné, B., Isidor, B., Meiler, J., Bosc-Rosati, A., Marcoux, J., Bousquet, M.-P., Poschmann, J., Laumonnier, F., Hildebrand, P. W., Eichler, E. E., McWalter, K., Krawitz, P. M., Droit, A., Elgersma, Y., Grabrucker, A. M., Bolduc, F. V., Bézieau, S., Ebstein, F. & Krüger, E., 26 Jan 2024, medRxiv.

      Research output: Working paper › Preprint › Academic

    • 2023

      Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

      Picketts, D., Mirzaa, G., Yan, K., Relator, R., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K., Sacoto, M. G., Dobyns, W., Park, K., Fernández-Mayoralas, D., Fernández-Jaén, A., Jayakar, P. & Brusco, A. & 42 others, Antona, V., Giorgio, E., Kvarnung, M., Isidor, B., Conrad, S., Cogné, B., Deb, W., Stuurman, K. E., Sterbova, K., Smal, N., Weckhuysen, S., Oegema, R., Innes, M., Latsko, M., Ben-Omran, T., Yeh, R., Kruer, M., Bakhtiari, S., Papavasiliou, A., Moutton, S., Nambot, S., Chanprasert, S., Paolucci, S., Miller, K., Burton, B., Kim, K., O'Heir, E., Bruwer, Z., Donald, K., Kleefstra, T., Goldstein, A., Angle, B., Bontempo, K., Miny, P., Joset, P., Demurger, F., Hobson, E., Pang, L., Carpenter, L., Li, D., Bonneau, D. & Sadikovic, B., 29 Sept 2023, Research Square, 32 p. (Research square).

      Research output: Working paper › Preprint › Academic

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      8 Downloads (Pure)
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