Pascal Schlosser

This study identifies mQTLs for serum and urine metabolites across ancestries, revealing ancestry-specific genetic effects and linking them to disease traits.

The paper investigates the transcriptional impact of loss of the Y chromosome (LOY) in clear cell renal cell carcinoma (ccRCC) and other cancers, finding minimal effects beyond gene dosage and pathway-level shifts.

The paper investigates sex-specific effects of Vhl and Vhl/Pbrm1 mutations in renal proximal tubule cells, revealing differences in lipid droplet accumulation and clonal expansion between males and females.

The paper develops a transcriptome-based method to match bulk RNA-seq data from kidney cell lines to single-cell reference datasets, identifying accurate cell type identities and evaluating method performance.

This study performs GWAS on the human urine proteome, identifying genetic associations with 20 proteins and linking them to disease risk and gene expression.

This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.

This study identifies SLC17A1 and SLC17A3 as key transporters for Lac-Phe excretion in urine, showing genetic and functional associations in mice and humans.

metaGWASmanager automates GWAS workflows for consortia, ensuring consistent phenotypes and quality control, improving efficiency and reliability of association results.

The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.

The paper identifies cis-pQTLs and develops models for proteome-wide association studies using plasma proteome data from European and African ancestry populations.

The paper identifies TTC30A/B as a key gene in ciliary chondrodysplasia and nephronophthisis-like disease using CRISPR/Cas9 in Xenopus tropicalis models.

This study identifies 424 new loci associated with kidney function using GWAS data from over 1.2 million individuals and prioritizes 34 genes for further functional investigation.