Author

G. Gambardella

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#protein folding Open access Oct 2026

ESMRank: learning-to-rank prediction of missense variant effects from deep mutational scanning data.

This work shows that redundancy among partially overlapping deep mutational scanning experiments, often treated as noise, yields a consensus landscape of mutational constraint, and introduces "variant soundness", an overlap-aware rank-fusion score that uses cross-experiment consistency to derive an assay-agnostic order...

Riccardo Arnese, G. Gambardella · Molecular Systems Biology · 0 citations

#gene editing Open access Sep 2026

Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosa.

Retinitis pigmentosa (RP) affects 1 in 3,000 individuals worldwide, with 30%-40% of cases inherited as autosomal dominant (AD). Mutations in RHO (RP4) are the most common cause of ADRP. Because most RHO mutations exert gain-of-function or dominant-negative effects, conventional gene supplementation is insufficient, req...

F. Esposito, Arjun Padmanabhan, M. Rhiel et al. · Cell Reports Medicine · 0 citations