Vahid Aslanzadeh

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

The paper functionally characterizes PRKN variants using a pooled assay, reclassifies variants of uncertain significance, and predicts Parkinson's disease age at onset.

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.

The paper uses deep mutational scanning to assess the functional impact of INSR variants, identifying clinically relevant function scores and potential gain-of-function variants.

The paper examines how transcription elongation rate affects splicing efficiency and fidelity in ribosomal protein transcripts, finding that faster and slower elongation impact these processes differently.