Joon‐Yong An

AnnFlux models single-cell perturbation dynamics using object-conditioned neural SDEs, predicting responses to unseen perturbations and combinations.

The paper uses an AI-driven framework to model perturbations in brain organoids and identifies candidate genes for autism using genomic and clinical data.

megaMine extracts gene-cancer-drug evidence from biomedical literature using a rule-based framework, achieving high accuracy in distinguishing efficacy from non-efficacy evidence.

This study identifies AGO1's role in neural progenitor cells in brain development and sociability through the LIN28A-REELIN axis, showing its impact on ASD-related phenotypes.

This study evaluates the quality and suitability of long-term stored tissues for multi-omics analyses, showing that while transcriptomic data show some changes, core gene expression and proteomic measurements remain reliable.

This study develops a method to generate human anterior neural organoids (hANOs) and uses them to model microcephaly in Cohen syndrome by analyzing gene expression and cellular phenotypes.

The paper constructs a single-cell atlas of developing human brains to analyze the temporal and cellular specificity of neurological disorder genes across 393,060 cells.

CWAS-Plus identifies noncoding variant associations in whole-genome sequencing data using cell-type-specific functional data, finding links to autism and Alzheimer's disease.

The paper develops a method to assess the functional effects of non-coding elements in specific cell types in vivo using a Cre-dependent MPRA approach.

The paper identifies shared regulatory targets of autism-associated transcriptional regulators in brain-expressed genes and shows their functional convergence in neurodevelopmental outcomes.

The paper quantifies developmental changes in voltage-gated sodium channel exon expression in human and mouse neocortex, identifying key splicing transitions associated with neurological disorders.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

The paper identifies common phenotypic modifiers that interact with autism-related genes, leading to a failure of presynaptic homeostatic plasticity.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

The paper discusses the role of whole genome sequencing in psychiatric disorders through the WGSPD consortium, aiming to assess its utility compared to other genotyping methods.