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Author

J. Lores

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Open access Sep 2026

Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice

Background: Pathologic variants in TNNC1 are associated with the development of hypertrophic cardiomyopathy (HCM). Unlike other sarcomeric genes, TNNC1 variants tend to cause early onset disease, and the most common variant identified in the gene, TNNC1-A8V, may also lead to severe diastolic dysfunction and restrictive...

Paula F. Nieto Morales, Enya R. Dewars, Amanda M. Mascarenhas et al. · 0 citations
#software testing Open access Aug 2026

Clinical and functional evidence supporting pathogenicity of a novel APOA5 variant in familial chylomicronemia syndrome

Findings support reclassification of the novel apolipoprotein A5 (ApoA5) variant as likely pathogenic and enable differentiation from multifactorial chylomicronemia syndrome.

J. Gutiérrez, P. Castaño, Claudia Monsalve et al. · 0 citations
Review Open access Aug 2026

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature

To the authors' knowledge, this is the first HPO-based diagnostic algorithm for the clinical and molecular approach to RASopathies that provides a structured, accessible tool to improve early recognition and guide molecular testing, particularly for the RASopathy subtypes represented in the validation cohort.

Fernanda Meneses, C. Quintero, J. Lores et al. · 0 citations

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