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Page 1
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Brodehl A, Ebbinghaus H, Gaertner-Rommel A, Stanasiuk C, Klauke B, Milting H. Brodehl A, et al. Among authors: ebbinghaus h. Genet Med. 2019 May;21(5):1246-1247. doi: 10.1038/s41436-018-0291-2. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262925 Free article. No abstract available.
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: ebbinghaus h. J Mol Cell Cardiol. 2020 Apr;141:17-29. doi: 10.1016/j.yjmcc.2020.03.006. Epub 2020 Mar 19. J Mol Cell Cardiol. 2020. PMID: 32201174 Free article.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: ebbinghaus h. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
Corrigendum: Case Report: Four cases of cardiac sarcoidosis in patients with inherited cardiomyopathy-a phenotypic overlap, co-existence of two rare cardiomyopathies or a second-hit disease.
Ebbinghaus H, Ueberham L, Husser-Bollmann D, Bollmann A, Paetsch I, Jahnke C, Laufs U, Dinov B. Ebbinghaus H, et al. Front Cardiovasc Med. 2024 Feb 14;11:1372782. doi: 10.3389/fcvm.2024.1372782. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38420265 Free PMC article.