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Author

E. Grosso

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Open access Aug 2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

A streamlined minigene-based workflow for rapid functional evaluation of splicing variants and a robust and scalable framework for functional interpretation of splicing variants is developed, improving diagnostic resolution and supporting more informed clinical decision-making in hereditary cancer genetics.

Noemi Calandra, Elisabetta Mereu, P. Ogliara et al. · 0 citations
Open access Jul 2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios, and underscores that navigating the complexities of large NDD cohorts requires a detailed, expert-driven approach to enhance diagnostic yield.

Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova et al. · 0 citations

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