Goutham Atla

The paper identifies CAD risk variants that alter VSMC gene programs via ox-LDL-induced enhancer remodelling using multi-omics approaches.

This study compares eQTL discovery in African and European ancestry cohorts, finding more eQTLs in African samples and improved GWAS variant-to-gene mapping using African eQTLs.

This study identifies regulatory de novo mutations in fetal brain-specific enhancers as a significant contributor to intellectual disability.

The paper identifies splicing QTLs in human pancreatic islets that contribute to type 2 diabetes susceptibility by affecting gene splicing and revealing novel molecular mechanisms.

The paper identifies a microexon program in pancreatic islets regulated by SRRM3, which affects insulin secretion and is linked to type 2 diabetes risk.

The paper creates TIGER, a resource integrating RNA-seq and genotyping data from human pancreatic islets to identify eQTLs and their associations with type 2 diabetes.

The paper shows REST inhibits pancreatic endocrine differentiation in mice, zebrafish, and human organoids, identifying it as a key negative regulator.

The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.

The paper links diabetes-associated enhancers with their target genes using 3D chromatin architecture in human pancreatic islets, revealing genetic variants that impact insulin secretion heritability.

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.