Author

M. Isidoro-García

2 papers indexed here

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Open access Sep 2026

Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.

BACKGROUND Disruption of MYBPC3 precursor mRNA splicing is a frequent genetic cause of hypertrophic cardiomyopathy (HCM). Most often, it reflects changes at canonical sites or the creation of novel splice sites. Prediction tools usually prioritize splice variants with lower efficiency when they are distant from canonic...

M. Gallego-Delgado, S. L. Lorenzo Hernández, Soledad García Hernández et al. · Circulation · 0 citations

Open access Jul 2026

An integrated computational, clinical, and functional framework for assessing PTPN11 (SHP2) variant effects on ERK signaling and neural crest cell behavior in Noonan spectrum disorders

The findings provide a refined framework for PTPN11 variant classification, and reveal unexpected SHP2 functions in neural crest development, with lineage-specific sensitivity to SHP2 dosage.

M. Rodríguez-Martín, K. Cheriet, S. Adiba et al. · medRxiv · 0 citations