• Atlas of the clinical genetics of human dilated cardiomyopathy 

      Haas, Jan; Frese, Karen S.; Peil, Barbara; Kloos, Wanda; Keller, Andreas; Nietsch, Rouven; Feng, Zhu; Müller, Sabine; Kayvanpour, Elham; Vogel, Britta; Sedaghat-Hamedani, Farbod; Lim, Wie-Keat; Zhao, Xiaohong; Fradkin, Dmitriy; Köhler, Doreen; Fischer, Simon; Franke, Jennifer; Marquart, Sabine; Barb, Ioana; Li, Daniel Tian; Amr, Ali; Ehlermann, Philipp; Mereles, Derliz; Weis, Tanja; Hassel, Sarah; Kremer, Andreas; King, Vanessa; Wirsz, Emil; Isnard, Richard; Komajda, Michel; Serio, Alessandra; Grasso, Maurizia; Syrris, Petros; Wicks, Eleanor; Plagnol, Vincent; Lopes, Luis; Gadgaard, Tenna; Eiskjaer, Hans; Jorgensen, Mads; García-Giustiniani, Diego; Ortiz-Genga, Martín; Crespo-Leiro, María Generosa; Deprez, Rondal H. Lekanne Dit; Christiaans, Imke; Rijsingen, Ingrid A. van; Wilde, Arthur A.; Waldenstrom, Anders; Bolognesi, Martino; Bellazzi, Riccardo; Mörner, Stellan; Lorenzo Bermejo, Justo; Monserrat, Lorenzo; Villard, Eric; Mogensen, Jens; Pinto, Yigal M.; Charron, Philippe; Elliott, Perry; Arbustini, Eloisa; Katus, Hugo A.; Meder, Benjamin (Oxford para European Society of Cardiology, 2014-08-27)
      [Abstract] Aim. Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM ...
    • Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants 

      Cannie, Douglas E.; Protonotarios, Alexandros; Bakalakos, Athanasios; Syrris, Petros; Lorenzini, Massimiliano; De Stavola, Bianca; Bjerregaard, Louise; Dybro, Anne M.; Hey, Thomas M.; Hansen, Frederikke G.; Navarro Peñalver, Marina; Crespo-Leiro, María Generosa; Larrañaga-Moreira, José M.; Frutos, Fernando de; Johnson, Renee; Slater, Thomas A.; Monserrat, Lorenzo; Sengupta, Anshuman; Mestroni, Luisa; Taylor, Matthew R.G.; Sinagra, Gianfranco; Bilinska, Zofia; Solla-Ruiz, Itziar; Arana Achaga, Xabier; Barriales-Villa, Roberto; García-Pavia, Pablo; Gimeno, Juan R.; Dal Ferro, Matteo; Merlo, Marco; Wahbi, Karim; Fatkin, Diane; Mogensen, Jens; Rasmussen, Torsten B.; Elliott, Perry M. (American Heart Association, 2023-10)
      [Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine ...