Worrawat Engchuan

Characterizing Features of the Genetic Architecture Underlying Autism from a Multi-Ancestry Perspective

The paper identifies ancestry-specific genetic loci associated with autism spectrum disorder using admixture mapping across diverse populations.

Integrative analysis reveals regulatory effects of tandem repeat expansions in tetralogy of Fallot.

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

AI-driven framework modeling perturbation in brain organoids reveals candidate genes for autism

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

Determinants of functional burden pleiotropy and gene dosage responses across human traits

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorder

The paper curates 222 genes associated with autism spectrum disorder (ASD) using the EAGLE framework, identifying 78 with definitive evidence and highlighting differential expression patterns between ASD and broader neurodevelopmental disorders.

Genome-Wide Significance Reconsidered: Low-Frequency Variants and Regulatory Networks in Autism

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

EAGLE-AI: A large language model workflow for automated extraction and scoring of literature evidence linking genes to autism spectrum disorder

EAGLE-AI automates gene-autism linkage evidence extraction and scoring with high accuracy, though challenges remain in handling unscreened papers and supplementary materials.

Advancing Human Population Genomics with DNA Foundation Models

This study introduces a DNA foundation model to assess functional genetic variation across diverse populations, demonstrating its utility in understanding Alzheimer's disease risk and ancestry-specific gene expression.

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

Genomic deletion and duplication effects on cognitive ability lie at the opposing ends of the cortical sensorimotor-association hierarchy

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease relevant pathologies

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

Gene copy number variation in pediatric mental illness in a general population

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

Genome-wide tandem repeat expansions contribute to schizophrenia risk

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.