Author
Institute of Genetics and CancerORCID 0000-0001-6203-4132Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Hasan Çubuk, Vahid Aslanzadeh, Yifei Shang…·Joseph A. Marsh
The paper uses deep mutational scanning to distinguish disease mechanisms in ERCC2 variants, finding that TTD variants have lower fitness than XP variants.
Hasan Çubuk, Marcin Plech, Vahid Aslanzadeh…·Grzegorz R. Kudla
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.
Vahid Aslanzadeh, Gemma V. Brierley, Rupa Kumar…·Robert K. Semple
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.