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Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: rath m. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Cellular models of genetic diseases.
Rath M, Felbor U. Rath M, et al. Med Genet. 2021 Dec 3;33(3):219-220. doi: 10.1515/medgen-2021-2095. eCollection 2021 Sep. Med Genet. 2021. PMID: 38835700 Free PMC article. No abstract available.
DEP-1 is a brain insulin receptor phosphatase that prevents the simultaneous activation of counteracting metabolic pathways.
Chopra S, Kadiri OL, Ulke J, Hauffe R, Jonas W, Cheshmeh S, Schmidt L, Bishop CA, Yagoub S, Schell M, Rath M, Krüger J, Lippert RN, Krüger M, Kappert K, Kleinridders A. Chopra S, et al. Among authors: rath m. Cell Rep. 2024 Dec 24;43(12):114984. doi: 10.1016/j.celrep.2024.114984. Epub 2024 Nov 26. Cell Rep. 2024. PMID: 39589923 Free article.
510 results