AN LABPublications논문
2026
- Clinical and Molecular HepatologyToward AI Virtual Cells for Hepatology: Representation, Generation, Dynamics, and Intervention in Single-Cell Models
- bioRxiv (Preprint프리프린트)AnnFlux: object-conditioned neural stochastic differential equations for single-cell perturbation dynamics
- bioRxiv (Preprint프리프린트)AI-driven framework modeling perturbation in brain organoids reveals candidate genes for autism
- bioRxiv (Preprint프리프린트)megaMine: a scalable, rule-based framework for mining gene-cancer-drug evidence from biomedical literature
- Molecules and CellsUSP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids
- Journal of Experimental & Clinical Cancer ResearchCancer therapy resistance converges on immune evasion: a unified framework from immunotherapy to targeted, endocrine, and DNA repair pathways
- ICML 2026 GenBio Workshop (Spotlight) (Workshop / conference학회 발표)annDNA: Learning Annotation-Aware Genomic Representations via Knowledge Distillation
- ICML 2026 GenBio Workshop (Workshop / conference학회 발표)Hepa-RAFT: Retrieval-Augmented Virtual Hepatocyte Responses for Hepatotoxicity Prediction
- ICML 2026 FM4LS Workshop (Workshop / conference학회 발표)Mode-Aware Phenotype Profiling from Korean Clinical Reports: An LLM-Derived Two-Layer Fingerprint for Autism Characterization
- Briefings in BioinformaticsAnnQ: reference-based quantification of cellular abnormality at single-cell resolutionSelected주요 논문
- BioinformaticsIDAP: An integrated literature- and knowledge-graph-driven evidence prioritization pipeline for precision oncology
- Communications BiologyRegion- and cell type-specific changes in gene expression in the cerebellum after classical fear conditioning
- Molecules and CellsTandem repeats in human brain evolution and disease susceptibility
- Current Opinion in Genetics and DevelopmentGenetic risk modeling approaches to resolve phenotypic and molecular heterogeneity in psychiatric disorders
- Selected주요 논문
- Alzheimer's & DementiaGenetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies
- EMBO Molecular MedicineBazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice
2025
- Genome MedicineEvaluation of familial phenotype deviation to measure the impact of de novo mutations in autismSelected주요 논문
- Nature CommunicationsWhole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer's disease and a cumulative effects model for risk liabilitySelected주요 논문
- bioRxiv (Preprint프리프린트)AGO1 in neural progenitor cells orchestrates brain development and sociability via LIN28A-REELIN axis
- bioRxiv (Preprint프리프린트)Characterization of Human Anterior Neural Organoids as a Model for Investigating Cohen Syndrome
- Journal of Proteome ResearchAssessing Long-Term Stored Tissues for Multi-Omics Data Quality and Proteogenomics Suitability
- Molecules and CellsAdvancing precision diagnosis in autism: Insights from large-scale genomic studies
- Molecular BrainPeripheral Substance P induces deficits in hippocampal synaptic plasticity and memory
- International Journal of Medical SciencesProteogenomic Analysis on RNA m6A Modification-Associated Genes Identifies a Distinct Subgroup with High IGF2BPs Expression Across Cancer Types
- Nature CommunicationsCD99-mediated immunological synapse formation potentiates CAR-T cell function
- Molecules and CellsDysregulated RNA Binding Proteins and Alternative Splicing: Emerging Roles in Autism Spectrum Disorder
- medRxiv (Preprint프리프린트)Establishment of in silico prediction of adjuvant chemotherapy response from active mitotic gene signature in non-small cell lung cancer
- Journal of Clinical InvestigationAberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models
- Advances in Clinical ChemistryMultiomics in cancer biomarker discovery and cancer subtyping
2024
- Genome MedicineWhole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.Selected주요 논문
- Nature CommunicationsProteogenomic analysis reveals non-small cell lung cancer subtypes predicting chromosome instability, and tumor microenvironment.Selected주요 논문
- Briefings in BioinformaticsEstimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.Selected주요 논문
- Cell ReportsFive autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.Selected주요 논문
- Advanced ScienceRNA N6-methyladenosine-binding protein YTHDFs redundantly attenuate cancer immunity by downregulating IFN-γ signaling in gastric cancer
- Clinical and Translational MedicinePan-cancer proteogenomic landscape of whole-genome doubling reveals putative therapeutic targets in various cancer types
- Experimental & Molecular MedicineAn integrative single-cell atlas to explore the cellular and temporal specificity of neurological disorder genes during human brain development.
- Psychiatry and Clinical NeurosciencesShort tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.
- Experimental & Molecular MedicineChronic ultraviolet irradiation induces memory deficits via dysregulation of the dopamine pathway
- Biological Psychiatry Global Open ScienceSex-differential gene expression in developing human cortex and its intersection with autism risk pathways
2023
- Communications BiologyA Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo
- The American Journal of Human GeneticsSystematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
- Cancer ResearchAngiopoietin-2-dependent spatial vascular destabilization promotes T-cell exclusion and limits immunotherapy in melanoma
- Experimental & Molecular MedicineDysregulation of the Wnt/β-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder
- Molecular PsychiatryCntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.
- International Journal of Molecular SciencesCharacterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays
2022
- Molecular BrainChronic skin ultraviolet irradiation induces transcriptomic changes associated with microglial dysfunction in the hippocampus.
- Nature GeneticsRare coding variation provides insight into the genetic architecture and phenotypic context of autism
- Molecular PsychiatryNon-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.
- Ophthalmic GeneticsInfantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.
- Journal of Autism and Developmental DisordersRisk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities.
- Experimental & Molecular MedicineAugmentation of the RNA m6A reader signature is associated with poor survival by enhancing cell proliferation and EMT across cancer types.
2021
- Neuroscience and Biobehavioral ReviewsGenetic architecture of autism spectrum disorder - Lessons from large-scale genomic studies.
- Genome MedicineDevelopmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.
- Molecules and CellsIntegrative Multi-Omics Approaches in Cancer Research - From Biological Networks to Clinical Subtypes.
- Molecular BrainKdm3b haploinsufficiency impairs the consolidation of cerebellum-dependent motor memory in mice.
- OncogeneANO1 regulates the maintenance of stemness in glioblastoma stem cells by stabilizing EGFRvIII.
- GenesIdentification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.
2020
- Educational and Psychological MeasurementExtensions of Multiple-Group Item Response Theory Alignment: Application to Psychiatric Phenotypes in an International Genomics Consortium.
2019
2018
- ScienceIntegrative functional genomic analysis of human brain development and neuropsychiatric risks.
- ScienceTranscriptome and epigenome landscape of human cortical development modeled in brain organoids.
- Nature GeneticsAn analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
2017
- Nature NeuroscienceWhole genome sequencing in psychiatric disorders: the WGSPD consortium
- Biological PsychiatryOpposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
- Biological PsychiatryAppreciating the Population-wide Impact of Copy Number Variants on Cognition.
- Genome BiologyDefining the spectrum of large inversions, complex structural variation, and chromothripsis in the morbid genome.
- Epidemiology and HealthNational human genome projects - an update and an agenda.
2016
- Neuroscience and Biobehavioral ReviewsGenetic heterogeneity in autism - From single gene to a pathway perspective.