Hyejung Won

This study identifies 38 expression-modulating variants associated with neurodevelopmental disorders and links them to neurodevelopmental transcriptional programs using MPRA and CROP-seq.

The paper assesses regulatory activity of cortical structure-associated variants using MPRA in human neural progenitor cells, identifying 918 variants with regulatory potential and showing condition-dependent effects.

The paper identifies polygenic hierarchies in macroscale brain structural organisation using genome-wide association studies of imaging-derived phenotypes.

The paper perturbs schizophrenia risk genes in mice to identify ciliary transcriptional programs as a potential downstream mechanism of disease.

This study shows that C9orf72 repeat expansions alter chromatin loops in neurons, linking RNA-DNA interactions to gene dysregulation in ALS.

The paper surveys pseudogene expression in human and macaque brains compared to 29 other tissues, finding elevated and consistent brain expression and associations with neuropsychiatric disorders.

The paper identifies 47 expression-modulating variants in AD-associated loci by analyzing their impact in immune cells under different inflammatory conditions.

The paper processes single-nuclei multi-omics data from 388 human brains to identify regulatory elements and build cell-type networks, revealing changes in aging and neuropsychiatric disorders.

The paper uses MPRA to identify functional regulatory variants associated with schizophrenia and shows they differ from eQTLs in genomic location and regulatory impact.

The paper identifies differential chromatin loops during megakaryocyte differentiation and shows their association with gene expression changes and histone modifications.

The paper examines HIV integration in the human brain using single nuclei transcriptomics, Hi-C, and IS-seq, finding 3D genomic reorganization and microglial activation linked to HIV infection.

The paper identifies trans-eQTLs in the human prefrontal cortex and links them to schizophrenia risk genes, showing their role in disease mechanisms.

The paper analyzes temporal changes in chromatin structure and gene expression during macrophage activation, finding a reciprocal relationship between loops and transcription.

GWAS of 2,347 neuroimaging phenotypes identifies genetic loci and structures related to cortical development, cellular processes, and neurodevelopmental disorders.

The paper assesses the transcriptional response of in vitro innate immune cell models to synthetic amyloid beta and finds no robust response, but identifies LPS and INFγ as better activators of microglia-like cells.

This study identifies tSNARE1 as a schizophrenia risk gene that regulates endolysosomal trafficking in cortical neurons through its isoforms' effects on endosomal cargo movement.

The paper uses Hi-C data to link genetic risk variants for smoking and alcohol use to specific genes and pathways in brain regions involved in addiction.

FIREcaller detects frequently interacting regions from Hi-C data and shows their association with gene regulation and GWAS variants in human tissues.

The paper identifies novel genetic loci associated with nicotine dependence and shows genetic correlations with other smoking traits and comorbidities using genome-wide association studies.

The paper identifies a convergent molecular subtype in ASD by integrating epigenomic and transcriptomic data, revealing shared dysregulation and links to immune processes and genetic risk variants.

The paper updates H-MAGMA to address statistical issues, showing reduced false positives and consistent results in psychiatric disorder GWAS.

The paper integrates chromatin architecture with transcriptomic data to explore cell-type-specific gene regulatory networks in brain disorders, identifying distinct cellular contributions to Alzheimer's and psychiatric diseases.

The paper develops H-MAGMA to link genetic variants to gene expression and cell-type specificity in brain disorders, identifying shared and distinct neurobiological mechanisms.

This study investigates whether social and non-social autism symptom domains are genetically distinct by analyzing genetic correlations between systemizing and autism traits.

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study identifies four novel genetic loci associated with multiple psychiatric disorders, implicating fetal neurodevelopment as a key mediator of shared genetic risk.

Cross-disorder meta-analysis of eight psychiatric GWAS (232,964 cases, 494,162 controls) reports 109 loci shared by two or more disorders and three groups of correlated disorders.

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

The paper identifies de novo mutations in fetal-brain active regulatory elements as a cause of 1-3% of neurodevelopmental disorders in patients without coding variants.