Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Stefania LenarduzziBeatrice SpedicatiBeatrice AlessandriniPaola TesolinAlessia PaldinoMarta GigliGianfranco SinagraPaolo GaspariniMatteo Dal FerroGiorgia GirottoPublished in: Molecular genetics & genomic medicine (2023)
This study highlights the importance of a multi-step approach (WES and MLPA) to characterize hereditary cardiovascular diseases, provides crucial information for clinical management and recurrence risk estimation, and lays the foundation for future personalized therapies.