Circulation Genomic and Precision Medicine

Novel truncating variant c.1222DupC in RBM20 causes cardiomyopathy consistent with haploinsufficiency.
Pant, Priyanka, Huang, Yong, Ghouse, Zakiya, Bai, Fang, Kemmling, Elena, Konrad, Laura, Alameldeen, Ahmed, Kistler, Rebecca, Seeger, Timon, Gotthardt, Michael, Parikh, Victoria N. and van den Hoogenhof, Maarten M.G.
Circulation Genomic and Precision Medicine : e005471. 30 April 2026 (In Press)

Nature Cardiovascular Research

CAMK2D causes heart failure in mice with RBM20 cardiomyopathy.
van den Hoogenhof, Maarten M.G., Duran, Javier, Britto-Borges, Thiago, Sequeira, Vasco, Kemmling, Elena, Konrad, Laura, Schreiter, Friederike, Lennermann, David C., Hartmann, Joshua, Schraft, Laura, Kornienko, Julia, Bock, Theresa, Krüger, Marcus, Maack, Christoph, Dieterich, Christoph, Steinmetz, Lars M., Dewenter, Matthias and Backs, Johannes
Nature Cardiovascular Research 5 (5): 479-491. May 2026

SSRN

Cytoplasmic RBM20 granules are sufficient to trigger dilated cardiomyopathy.
Kornienko, Julia, Fenzl, Kai, Schraft, Laura, Konrad, Laura, Rapti, Kleopatra, Krämer, Chiara, Grimm, Dirk, van den Hoogenhof, Maarten M.G. and Steinmetz, Lars M.
SSRN : 6642468. 2026