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Author

Francesca Cappuccini

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Open access Jul 2026

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy

Two recurrent canonical splice-site variants identified in patients with HCM from the Emilia-Romagna region of Northern Italy represent novel founder alleles associated with HCM in Northern Italy, and identification improves molecular diagnosis, family screening, and supports the development of variant-targeted therape...

C. Cristalli, M. Schiavo, M. R. S. Foti et al. · 0 citations
Case report Open access Aug 2026

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies

A novel case of the PUS7-related disorder, which was diagnosed in a young girl referred to the authors' center following a misdiagnosis of Kleefstra Syndrome type 2, and its similarities with a main spliceosomopathy, ReNU syndrome are investigated, suggesting that disorders of pseudouridylation might possibly be includ...

Giulia Bruna Marchetti, Francesca Cappuccini, Lucrezia Goisis et al. · 0 citations

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