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):
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SDG 2 Zero Hunger
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SDG 3 Good Health and Well-being
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Dive into the research topics where Thomas Meitinger is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia
Schmieder, R. S., Krefting, J., Ates, S., Schlieben, L. D., Arens, S., Kordonouri, O., Sander, M., Holdenrieder, S., Mall, V., Meitinger, T., Von Scheidt, M., Koenig, W., Leipold, G., Prokisch, H., Schunkert, H. & Sanin, V., 1 Feb 2026, In: European Journal of Preventive Cardiology. 33, 3, p. 361-369 9 p.Research output: Contribution to journal › Article › peer-review
Open Access1 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., Feb 2026, In: American Journal of Medical Genetics, Part A. 200, 2, p. 511-517 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Pleiotropic effects of MORC2 derive from its epigenetic signature
Peymani, F., Ebihara, T., Smirnov, D., Kopajtich, R., Ando, M., Bertini, E., Carrozzo, R., Diodato, D., Distelmaier, F., Fang, F., Ghezzi, D., Hempel, M., Iwanicka-Pronicka, K., Klopstock, T., Stenton, S. L., Lamperti, C., Liu, Z., Murtazina, A., Okamoto, Y. & Okazaki, Y. & 12 others, , 8 Jan 2026, In: Brain. 149, 1, p. 163-177 15 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
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, , Jul 2025, In: Nature Genetics. 57, 7, p. 1790-1791 2 p.Research output: Contribution to journal › Comment/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, , 1 Aug 2025, In: Brain. 148, 8, p. 2827-2846 20 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations