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Author

G. Kudla

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Open access Sep 2026

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

Pathogenic ERCC2 variants cause xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or both, yet variant effect scores are usually interpreted only as measures of pathogenicity rather than of which disease mechanism is disrupted. XPD, the ERCC2-encoded TFIIH subunit, functions in both nucleotide excision repair and t...

Hasan Çubuk, Vahid Aslanzadeh, Yi-Fei Shang et al. · 0 citations
Open access Aug 2026

Evaluating the performance of splicing predictors on thousands of synthetic gene variants

Computational predictors of RNA splicing are increasingly used to interpret genetic variants and to design synthetic genes, yet they are almost always benchmarked on endogenous human sequences closely related to their training data. Whether their performance reflects genuine recognition of splicing signals, or instead...

Fernando Bellido Molías, G. Kudla · 0 citations

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