Skip to main navigation Skip to search Skip to main content
No photo of Denisa Weis

View Scopus Profile

Denisa Weis

Univ.-Doz., Dr.med.univ.

  • Analysis of clinically relevant large tandem repeats using nanopore sequencing

    Madritsch, S., Horner, D., Löwenstern, T., Brait, N., Arnold, V., Wenzel, A., Weis, D., Hengstschläger, M. & Laccone, F., 04 Dec 2025, In: Scientific Reports. 16, 1, 762.

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

    Open Access

  • Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

    Shahsavani, M., Wincent, J., Reiter, R., Soltysova, A., Schuy, J., Helgadottir, H. T., Eisfeldt, J., Ek, M., Ficek, A., Druschke, L., Kusikova, K., Hsieh, T.-C., Krichhoff, A., Krawitz, P., Li, J.-M., Webersinke, G., Gorokhova, S., Missirian, C., Riccardi, F. & Pavinato, L. & 53 others, Brusco, A., Mandrile, G., Trajkova, S., Pintus, F., Gagachovska, B., Waisfisz, Q., van Hagen, A., Bedoukian, E., Izumi, K., Granger, L., Petersen, A., Oegema, R., Huibers, M., Demurger, F., Brischoux-Boucher, E., Julia, S., Banneau, G., Zavala, M. J., Lagos, C., Repetto, G. M., Jouret, G., Kentros, C., Ganapathi, M., Chung, W. K., May, H., Hiatt, S. M., Kelley, W. V., Förster, A., Olfe, L., Shillington, A., Dauriat, B., Mercier, S., Cogné, B., Engel, C., Dahlen, E., Rosenberger, G., Sauvigny, T., Abdallah, H. H., Courtin, T., Stray-Pedersen, A., Bernat, J. A., Paolillo, V. K., Viso, F. D., Alaimo, J. T., Thiffault, I., Farrow, E. G., Cohen, A. S. A., Weis, S., Duba, H.-C., Nordgren, A., Falk, A., Weis, D. & Lindstrand, A., 30 Dec 2025, 33 p. (Research square).

    Research output: Working paper and reports › Preprint

    Open Access

  • Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

    van der Sluijs, P. J., Moutton, S., Dingemans, A. J. M., Weis, D., Levy, M. A., Boycott, K. M., Arberas, C., Baldassarri, M., Beneteau, C., Brusco, A., Coutton, C., Dabir, T., Dentici, M. L., Devriendt, K., Faivre, L., van Haelst, M. M., Jizi, K., Kempers, M. J., Kerkhof, J. & Kharbanda, M. & 27 others, Lachlan, K., Marle, N., McConkey, H., Mencarelli, M. A., Mowat, D., Niceta, M., Nicolas, C., Novelli, A., Orlando, V., Pichon, O., Rankin, J., Relator, R., Ropers, F. G., Rosenfeld, J. A., Sachdev, R., Sandaradura, S. A., Shukarova-Angelovska, E., Steenbeek, D., Tartaglia, M., Tedder, M. A., Trajkova, S., Winer, N., Woods, J., de Vries, B. B. A., Sadikovic, B., Alders, M. & Santen, G. W. E., Jan 2025, In: Genetics in Medicine. 27, 1, 15 p., 101283.

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

  • Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

    Kušíková, K., Hsieh, T.-C., Pfeifer, M., Fauth, C., Murakami, Y., Laccone, F., Karall, D., Bonfig, W., Stewart, H. & Weis, D., 2025, In: Frontiers in Genetics. 16, p. 1598602 1598602.

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

    Open Access

  • Epigenomic and phenotypic characterization of DEGCAGS syndrome

    Karimi, K., Weis, D., Aukrust, I., Hsieh, T.-C., Horackova, M., Paulsen, J., Mendoza Londono, R., Dupuis, L., Dickson, M., Lesman, H., Lau, T., Murphy, D., Hama Salih, K., Al-Musawi, B. M. S., Al-Obaidi, R. G. Y., Rydzanicz, M., Biela, M., Santos, M. S., Aldeeri, A. & Gazda, H. T. & 22 others, Pais, L., Shril, S., Døllner, H., Bartakke, S., Laccone, F., Soltysova, A., Kitzler, T., Soliman, N. A., Relator, R., Levy, M. A., Kerkhof, J., Rzasa, J., Houlden, H., Pilshofer, G. V., Jobst-Schwan, T., Hildebrandt, F., Sousa, S. B., Maroofian, R., Yu, T. W., Krawitz, P., Sadikovic, B. & Douzgou Houge, S., Dec 2024, In: European Journal of Human Genetics. 32, 12, p. 1574-1582 9 p.

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

View all 19 research outputs
  • 4 Contributed talk
  • 1 Invited talk