Santhi K. Ganesh

VGLL3-centered network connects placental, vascular, and immune defects in preeclampsia

This study identifies VGLL3 as a key driver of preeclampsia by linking it to placental, vascular, and immune defects, showing its therapeutic potential through genetic and pharmacological inhibition.

Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure

The paper identifies genes regulating blood pressure by analyzing enhancer variants and integrating epigenomic data with genotype-phenotype associations across multiple tissues.

Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure

The paper identifies tissue-specific regulatory variants influencing blood pressure heritability using GWAS and gene expression data.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

The paper describes a system for harmonizing phenotype data across multiple studies in the TOPMed program, enabling reproducible and shared phenotype data for over 80 studies.

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

Rare Loss-of-Function Mutations of PTGIR identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

The paper identifies rare loss-of-function mutations in PTGIR in FMD and SCAD patients, showing impaired prostacyclin receptor function and suggesting a role for prostacyclin signaling in these diseases.

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

The in vivo endothelial cell translatome is highly heterogeneous across vascular beds

The paper uses EC-TRAP to analyze endothelial cell translatomes across vascular beds, revealing heterogeneity in gene expression and improved detection of low-abundance transcripts.

Genetics of fasting indices of glucose homeostasis using GWIS unravels tight relationships with inflammatory markers

The paper uses GWIS to analyze genetic correlations between HOMA-B/-IR and inflammatory markers, identifying novel loci and strong genetic links with PAI-1 and C-reactive protein.