Circulation Genomic and Precision Medicine

Novel truncating variant c.1222DupC in RBM20 causes cardiomyopathy consistent with haploinsufficiency.
Pant, Priyanka ORCID: https://orcid.org/0009-0003-3271-3259, Huang, Yong ORCID: https://orcid.org/0009-0000-6727-4960, Ghouse, Zakiya ORCID: https://orcid.org/0009-0009-7584-202X, Bai, Fang ORCID: https://orcid.org/0000-0003-0639-8104, Kemmling, Elena ORCID: https://orcid.org/0009-0001-4952-306X, Konrad, Laura ORCID: https://orcid.org/0009-0008-4700-7433, Alameldeen, Ahmed ORCID: https://orcid.org/0000-0002-0026-7501, Kistler, Rebecca, Seeger, Timon, Gotthardt, Michael ORCID: https://orcid.org/0000-0003-1788-3172, Parikh, Victoria N. ORCID: https://orcid.org/0000-0002-5138-5559 and van den Hoogenhof, Maarten M.G. ORCID: https://orcid.org/0000-0003-2768-3457
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. ORCID: https://orcid.org/0000-0003-2768-3457, Duran, Javier, Britto-Borges, Thiago, Sequeira, Vasco, Kemmling, Elena ORCID: https://orcid.org/0009-0001-4952-306X, 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 ORCID: https://orcid.org/0000-0002-2322-2699
Nature Cardiovascular Research 5 (5): 479-491. May 2026