Marcin Plech

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

The paper uses deep mutational scanning to distinguish disease mechanisms in ERCC2 variants, finding that TTD variants have lower fitness than XP variants.

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

The paper develops a method to estimate enzymatic activities from genetic variants using fitness assays and combines allele effects to predict pathogenicity in recessive diseases.

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

The paper uses deep mutational scanning to quantify PAX6:DNA binding and predict clinical outcomes of variants, finding most pathogenic mutations affect DNA binding.