• 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 ...
    • Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure 

      Martínez-Veira, Cristina; Cannie, Douglas E.; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-François; Ditaranto, Rafaello; Larrañaga-Moreira, José María; Medo, Kristen; Bermúdez-Jiménez, Francisco J.; Ben Yaou, Rabah; Leturcq, France; Robles-Mezcua, Ainhoa; Marini-Betolo, Chiara; Cabrera, Eva; Reuter, Chloe; Limeres-Freire, Javier; Rodríguez-Palomares, José Fernando; Mestroni, Luisa; Taylor, Matthew R. G.; Parikh, Victoria N.; Ashley, Euan A.; Barriales-Villa, Roberto; Jiménez-Jáimez, Juan; García-Pavía, Pablo; Charron, Philippe; Biagini, Elena; García-Pinilla, José Manuel; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M. (Oxford Academic, 2023-08-28)
      [Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart ...
    • Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers 

      Lorenzini, Massimiliano; Norrish, Gabrielle; Field, Ella; Ochoa, Juan Pablo; Cicerchia, Marcos; Akhtar, Mohammed M.; Syrris, Petros; Lopes, Luis; Kaski, Juan Pablo; Elliot, Perry (Elsevier, 2020-07-27)
      [Abstract] Background. Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on ...
    • 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 ...