Cristian Pattaro

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

Distinct and shared genetics of kidney filtration function versus albuminuria revealed by multi-trait GWAS

This study performs a multi-trait GWAS on kidney filtration function and albuminuria, identifying distinct genetic signals and shared mechanisms.

Integrative kidney multi-omics traces genetic drivers of chronic kidney disease to targets within the renal epigenome, transcriptome and proteome

The paper identifies 508 CKD-associated genetic loci, prioritizes 651 kidney genes, and highlights novel CKD genes like CA12 with functional consequences.

Genome-Wide Association Study Meta-Analysis Uncovers Novel Genetic Variants Associated with Olfactory Dysfunction

This paper identifies a novel genetic locus associated with olfactory dysfunction through a genome-wide association study meta-analysis and shows causal links to various health outcomes.

Genomic and molecular evidence that the lncRNA DSP-AS1 modulates Desmoplakin expression

The paper identifies a variant in DSP associated with QRS interval and shows that DSP-AS1 regulates DSP expression through functional and Mendelian randomization analyses.

Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies

Haplomics is a Snakemake pipeline for haplotype-based association analysis in GWAS loci, identifying significant associations in a multi-omics study.

Phenotypic spectrum of FAM47E-SHROOM3 haplotype composition in a general population sample

The paper identifies haplotypes at the FAM47E-SHROOM3 locus associated with kidney function, electrolyte, and hematological traits in a population sample.

Genome-wide association study reveals loci with sex-specific effects on plasma bile acids

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals

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.

Kidney Function and Blood Pressure: A Bi-directional Mendelian Randomisation Study

This study uses Mendelian randomisation to show higher kidney function causally lowers blood pressure, but blood pressure does not significantly affect kidney function.

KCND3 is a novel susceptibility locus for early repolarization

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.