Institute of Medical Genetics

Websitehttps://www.kepleruniklinikum.at/kliniken-einrichtungen/medizinische-genetik/was-wir-tun/

Fields of science

301301 Human genetics
302013 Medical diagnostics
301306 Medical molecular biology
301307 Cytogenetics

Simon Bogengruber
- Institute of Medical Genetics
Person
Johanna Grabner
- Institute of Medical Genetics
Person
Barbara Heinl
- Institute of Medical Genetics
Person

5 Active

Neuromuskuläre Erkrankungen mit unklarem genetischen Hintergrund. Eine explorative retrospektive Studie zur Erfassung neuer krankheitsrelevanter Gene
Weis, D. (PI)
10.10.2021 → …
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
Retrospektive Genotyp-Phänotyp Studie in seltenen genetisch bedingten Erkrankungen
Duba, H.-C. (Researcher), Weis, D. (Researcher), Heinl, B. (Researcher), Maurer, M. (Researcher), Skvariloca, M. (Researcher), Braun, R. (Researcher) & Nagy, D. (PI)
01.10.2021 → …
Project: Clinical studies › Clinical Study (Academic - no third-party funds)
Monogene Erkrankungen mit unklarem genetischen Hintergrund
Duba, H.-C. (PI)
04.05.2016 → …
Project: Clinical studies › Clinical Study (Academic - no third-party funds)

4 Article
1 Preprint

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

Institute of Medical Genetics

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