David U. Gorkin

This study identifies a female-specific role for Nab2 in regulating insulin signaling and fat storage through neuronal control of dilp2 and dilp5 mRNA levels in Drosophila.

The paper identifies BAF-dependent chromatin regulatory elements and shows that BAF complexes are required for transcriptional responses to stimuli.

The paper generates a mouse model with a deletion in an enhancer of EBF3, showing reduced Ebf3 expression and sex-specific behavioral and phenotypic differences.

The paper analyzes gene intolerance to loss-of-function variation in a rare disease cohort to identify patterns in gene expression, sequence features, and disease associations across FUSIL categories.

The paper maps chromatin interactions in mouse fetal tissues and links them to gene expression and disease risk variants in humans.

The paper introduces BNBC, a normalization and batch correction method for Hi-C data, improving cross-sample comparisons and analyses.

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

The paper identifies 491,818 candidate cis regulatory elements in adult mouse brain sub-types and links them to target genes and transcriptional regulators involved in various pathways.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

This study combines large-scale GWAS and single-cell epigenomics to identify cell type-specific mechanisms of type 1 diabetes risk.

The paper uses single-cell chromatin accessibility to identify cell type- and state-specific regulatory programs associated with type 2 diabetes risk.

This study shows that chromatin organization remains largely intact in mouse embryonic stem cells after acute CTCF depletion, despite reduced cell growth and changes in chromatin loop interactions and cohesin occupancy.

The paper uses snATAC-seq to map chromatin accessibility QTLs in immune cell types and fine-maps complex trait loci, identifying cell type-specific causal variants.

The paper maps DNA methylation changes across 12 mouse tissues at 8 developmental stages, identifying methylation variant regions and tissue-specific enhancers linked to human genetic diseases.

The paper systematically maps chromatin state landscapes during mouse development by profiling histone modifications across 72 tissue-stages, identifying dynamic enhancers and transcriptional regulators.

This study shows that CTCF depletion in mESCs weakens TAD boundaries and INs but only affects a small subset of enhancer-promoter contacts, highlighting CTCF's role in promoting long-range gene regulation.

This study identifies DNA sequence variants that influence 3D chromatin conformation and links them to gene expression and disease risk.

The paper identifies distal enhancer networks in pancreatic islets associated with type 2 diabetes risk by integrating chromatin accessibility, conformation, and genetic data.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

The paper uses single nucleus ATAC-seq to analyze chromatin accessibility in mouse forebrain development, identifying cell-type-specific regulatory sequences and transcriptional regulators.