Agnieszka D’Antonio‐Chronowska

The paper identifies genetic factors influencing iPSC growth rates, finding rare variants in WDR54 and a polygenic background explaining most variance.

This study uses single-cell and spatial profiling to identify cellular and molecular drivers of beta cell dysfunction in the pancreas of cystic fibrosis patients.

This study uses single-cell multi-omics to identify cell type-specific regulatory networks and novel therapeutic targets in MASLD.

The paper integrates single-cell multi-omics and 3D genome data from human hearts to identify gene regulatory changes and causal genetic contributors in heart failure.

The paper identifies multi-omic QTLs in early developmental tissues and shows that GWAS loci often involve complex regulatory variants not captured by eQTLs alone.

This study investigates how IFNγ affects cardiac vascular endothelium by analyzing RNA-seq and ATAC-seq data from iPSC-derived cells, revealing immune-like regulatory changes and GWAS variant overlaps.

The paper shows that phosphorylated CTCF binds the SIRT1 promoter under oxidative stress, activating a cardioprotective transcriptional program in cardiomyocytes.

The paper identifies regulatory network modules in human stem cells, showing epigenetic and genetic factors influence pluripotency state differences.

The paper maps eQTLs in fetal-like pancreatic progenitor cells, identifying regulatory variants that influence diabetes risk by affecting gene expression and splicing in early development.

This study identifies causal genetic variants for cardiac traits by integrating spatiotemporal eQTL analysis with GWAS data, showing stage- and tissue-specific effects.

The paper identifies ETS affinity-optimizing SNVs in heart enhancers that disrupt development and contribute to cardiac traits in Ciona and human iPSC-CMs.

The paper identifies reactivation of fetal-specific RNA-binding protein isoforms in heart failure, leading to a fetal transcriptome state.

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.

The paper deconvolutes GTEx tissues to estimate cell-type proportions and identifies cell-type-associated eQTLs, revealing novel regulatory variants linked to disease.

This study systematically analyzes the MHC region to uncover genetic associations between HLA types, gene expression, and disease, revealing novel insights into disease mechanisms.

The paper investigates how non-genetic variability in iPSC lines affects their response to WNT inhibition and cardiac differentiation, identifying 91 signature genes and X chromosome dosage differences as key factors.

The paper identifies allele-specific NKX2-5 binding variants associated with EKG traits by integrating iPSC-CM data and GWAS, showing their role in heart rate loci and cardiac enhancer activity.

The paper uses iPSC-derived retinal pigment epithelium to identify and functionally characterize causal variants at AMD risk loci, finding rs943080 as the probable causal variant at VEGFA.

The paper analyzes co-accessibility across chromosomes using ATAC-seq and identifies its regulatory effects on gene expression and disease-relevant genes.

The paper investigates how genetic and epigenetic factors influence chromatin looping strength across cell types and haplotypes, finding that loop strength changes correlate with significant gene expression differences.

This study analyzes the mutational burden in human iPSCs using whole genome sequencing and integrates transcriptome and epigenome data to identify mutation patterns and their impact on gene expression.