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Journal of the American College of Cardiology|October 25, 2023
Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected RelativesSøren K Nielsen, Frederikke G Hansen, Torsten B Rasmussen, et al.Circulation. Cardiovascular Genetics|April 8, 2014
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermisTorsten B Rasmussen, Peter H Nissen, Johan Palmfeldt, et al.Human Mutation|February 6, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathyTorsten B Rasmussen, Johan Palmfeldt, Peter H Nissen, et al.European Journal of Heart Failure|June 27, 2018
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelopeRasha A Al-Saaidi, Torsten B Rasmussen, Rune I D Birkler, et al.Circulation Research|August 18, 2016
RBM20 Regulates Circular RNA Production From the Titin GeneMohsin A F Khan, Yolan J Reckman, Simona Aufiero, et al.Human Molecular Genetics|May 6, 2025
Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and functionYolan J Reckman, Jan Haas, Ingeborg van der Made, et al.Cardiovascular Research|August 7, 2016
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanismAbdelaziz Beqqali, Ilse A E Bollen, Torsten B Rasmussen, et al.Journal of the American Heart Association|November 4, 2024
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated CardiomyopathyFernando de Frutos, Juan Pablo Ochoa, Gregory Webster, et al.Circulation. Genomic and Precision Medicine|August 18, 2023
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 VariantsDouglas E Cannie, Alexandros Protonotarios, Athanasios Bakalakos, et al.Journal of the American College of Cardiology|July 11, 2020
Clinical Features and Natural History of PRKAG2 Variant Cardiac GlycogenosisAngela Lopez-Sainz, Fernando Dominguez, Luis Rocha Lopes, et al.Pageof 3