D
Damia Heine-Suñer
Publications - 8
Citations - 3332
Damia Heine-Suñer is an academic researcher. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 1, co-authored 1 publications receiving 3117 citations.
Papers
More filters
Journal ArticleDOI
Epigenetic differences arise during the lifetime of monozygotic twins
Mario F. Fraga,Esteban Ballestar,Maria F. Paz,Santiago Ropero,Fernando Setien,Maria Luisa Ballestar,Damia Heine-Suñer,Juan C. Cigudosa,Miguel Urioste,Javier Benitez,Manuel Boix-Chornet,Abel Sánchez-Aguilera,Charlotte Ling,Emma Carlsson,Pernille Poulsen,Allan Vaag,Zarko Stephan,Tim D. Spector,Yue Zhong Wu,Christoph Plass,Manel Esteller +20 more
TL;DR: Older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait, indicating how an appreciation of epigenetics is missing from the understanding of how different phenotypes can be originated from the same genotype.
Journal ArticleDOI
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy
F. Caimi-Martinez,G Antoniutti,Rocio Blanco,Bernardo García de la Villa,Nelson Alvarenga,Nancy Govea-Callizo,Laura Torres-Juan,Damia Heine-Suñer,Jordi Rosell-Andreo,David Crémer Luengos,Jorge Alvarez-Rubio,Tomás Ripoll-Vera +11 more
TL;DR: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease, emphasizing the value of knowing the phenotypic expression of each variant.
Journal ArticleDOI
Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
G Antoniutti,F. Caimi-Martinez,Jorge Alvarez-Rubio,Paula Morlanes-Gracia,J. Pons-Llinares,Blanca Rodríguez-Picón,E Fortuny-Frau,Laura Torres-Juan,Damia Heine-Suñer,Tomás Ripoll-Vera +9 more
TL;DR: This variant is defined as likely pathogenic and associated with the development of HCM, with evident segregation in patients with HCM from eight families and the location in an active site of the protein.
Journal ArticleDOI
Genotype-phenotype correlation and allele dating analysis of a novel variant in hypertrophic cardiomyopathy: p.Arg652Lys in MYH7
G Antoniutti,F. Caimi-Martinez,Jorge Alvarez-Rubio,Paula Morlanes-Gracia,J. Pons-Llinares,Blanca Rodríguez-Picón,E Fortuny-Frau,Laura Torres-Juan,J. Hernández-Rodríguez,Damia Heine-Suñer,Tomás Ripoll-Vera +10 more
TL;DR: The genotype-phenotype correlation of a novel variant found in patients with HCM is assessed and the possibility of a founder effect in the Balearic Islands, Spain is explored to better assess the proband's risk.
Journal ArticleDOI
NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported
Laura Torres-Juan,Yolanda Rico,Elena Fortuny,Jaume Pons,Fernando Santos-Simarro,Damia Heine-Suñer +5 more
TL;DR: In this article , the authors reported two cases in which there is clear evidence that alterations in the NOTCH1 gene are the cause of Thoracic aortic aneurysms (TAA) in the absence of BAV.