Vladimı́r Saudek

This study investigates how CIDEB loss-of-function mutations protect against fatty liver disease by enhancing β-oxidation through ATGL and PPARα activation.

This study identifies biallelic SREK1 variants causing a Prader-Willi-like syndrome with obesity and hypotonia in consanguineous children.

This study identifies fetal and maternal GDF15 as key factors in pregnancy-related nausea and vomiting, showing their roles in disease risk and severity.

This study identifies rare loss of function variants in four genes associated with beneficial changes in body fat distribution using genome-wide and exome-sequence data from UK Biobank.

This study identifies rare variant associations with fat distribution and cardio-metabolic risk, implicating intracellular lipolysis genes in these traits.