Damia Heine-Suñer

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.

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.

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.

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.

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.