Melis A. Aksit

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This study identifies 504 plasma proteins influenced by HLA genetic variation in 45,330 Europeans, revealing their roles in immune function and disease.

The paper develops a cellular reporter assay to measure MutSβ activity and shows its modulation by MSH3 levels and HDAC3 inhibitors.

The paper investigates XIST repression on the future active X in human and bovine preimplantation embryos using single-cell RNA sequencing and qRT-PCR, identifying potential repressors and timing of XIST expression.

This paper introduces BayPR, a Bayesian method that assigns pathogenicity probabilities to genetic variants using population data, achieving high accuracy for Mendelian disorders.