Thomas Meitinger

Prof. Dr.

1982 …2025

Research activity per year

Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 2 - Zero Hunger
  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings (Nature Genetics, (2024), 56, 8, (1644-1653), 10.1038/s41588-024-01836-1)

    Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T. C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C. & Weinhold, N. & 152 others, Suter, A. A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C. E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Bhasin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A. M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., Jul 2025, In: Nature Genetics. 57, 7, p. 1790-1791 2 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Zech, M., Dzinovic, I., Skorvanek, M., Harrer, P., Necpal, J., Kopajtich, R., Kittke, V., Tilch, E., Zhao, C., Tsoma, E., Sorrentino, U., Indelicato, E., Stehr, A., Saparov, A., Abela, L., Adamovicova, M., Afenjar, A., Assmann, B., Baloghova, J. & Baumann, M. & 63 others, Berutti, R., Brezna, Z., Brugger, M., Brunet, T., Cogne, B., Colangelo, I., Conboy, E., Distelmaier, F., Eckenweiler, M., Garavaglia, B., Geerlof, A., Graf, E., Hackenberg, A., Harvanova, D., Haslinger, B., Havrankova, P., Hoffmann, G. F., Janzarik, W. G., Keren, B., Kolnikova, M., Kolokotronis, K., Kosutzka, Z., Koy, A., Krenn, M., Krygier, M., Kusikova, K., Maier, O., Meitinger, T., Mertes, C., Milenkovic, I., Monfrini, E., Santos Dias Mourao, A., Musacchio, T., Nizon, M., Ostrozovicova, M., Pavlov, M., Prihodova, I., Rektorova, I., Romito, L. M., Rybanska, B., Sadr-Nabavi, A., Schwenger, S., Shoeibi, A., Sitzberger, A., Smirnov, D., Svantnerova, J., Tautanova, R., Toelle, S. P., Ulmanova, O., Vetrini, F., Vill, K., Wagner, M., Weise, D., Zorzi, G., Di Fonzo, A., Oexle, K., Berweck, S., Mall, V., Boesch, S., Schormair, B., Prokisch, H., Jech, R. & Winkelmann, J., 1 Aug 2025, In: Brain. 148, 8, p. 2827-2846 20 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

    Brunet, T., Zech, M., Schatz, U. A., Adamovičová, M., Wagner, M., Graf, E., Berutti, R., Weigand, H., Jech, R., Meitinger, T., Winkelmann, J. & Brugger, M., 2025, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • European training requirements for the specialty of medical genetics

    Working Group ETR for Medical Genetics, Sep 2025, In: European Journal of Human Genetics. 33, 9, p. 1121-1126 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Bidirectional modulation of TCA cycle metabolites and anaplerosis by metformin and its combination with SGLT2i

    Harada, M., Adam, J., Covic, M., Ge, J., Brandmaier, S., Muschet, C., Huang, J., Han, S., Rommel, M., Rotter, M., Heier, M., Mohney, R. P., Krumsiek, J., Kastenmüller, G., Rathmann, W., Zou, Z., Zukunft, S., Scheerer, M. F., Neschen, S. & Adamski, J. & 8 others, Gieger, C., Peters, A., Ankerst, D. P., Meitinger, T., Alderete, T. L., de Angelis, M. H., Suhre, K. & Wang-Sattler, R., Dec 2024, In: Cardiovascular Diabetology. 23, 1, 199.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations