Meltem Ece Kars

This study examines rare gain- and loss-of-function variants across 18,214 genes using whole-exome sequencing and electronic health records to identify ancestry-specific and shared gene-variant associations with various traits.

Adipocyte-specific deletion of Prdm16 ablates beige fat identity, derepresses the secreted enzyme Qsox1, and induces vascular fibrosis, angiotensin II hyperreactivity, and elevated blood pressure in mice.

This study investigates how the LRRK2-N2081D variant increases Crohn's disease risk by showing it causes more severe colitis and distinct RAB substrate phosphorylation compared to LRRK2-G2019S.

This study identifies a proteomic signature in humans following acute cold exposure that correlates with cardioprotective and anti-aging effects.

This paper identifies a founder mutation in G6PC3 causing congenital neutropenia and shows it leads to loss of protein function and altered glycolysis.

LoGoFunc predicts pathogenic gain- and loss-of-function variants using ensemble learning with diverse biological features, outperforming existing tools.

The paper compiles 820 host genetic variants associated with COVID-19 susceptibility, develops a machine learning classifier to predict severity variants, and creates a web-based resource for exploring these variants.