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Institute of Medical Genetics

Organisation profile

Fields of science

  • 301301 Human genetics
  • 302013 Medical diagnostics
  • 301306 Medical molecular biology
  • 301307 Cytogenetics
View all 19 profiles
View all 5 projects

  • 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

View all 21 research outputs