Stephen W. Scherer

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

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.

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

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.

This study shows that SCN2A loss in human forebrain organoids impairs excitatory and inhibitory neurogenesis, leading to developmental imbalances and reversible through Sonic hedgehog inhibition.

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.

The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

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

The paper evaluates codon usage bias in humans, showing its association with biological processes, protein structure, and tRNA abundance, while disentangling mutational pressure from translational selection.

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.

The paper presents the genome sequence of the hemlock woolly adelgid, including chromosome assembly, gene annotation, and mitogenome data.

This paper introduces RoP, a method to analyze phase effects in genetic association studies using long-read sequencing data, showing improved detection of cis and trans effects in cystic fibrosis loci.

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

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.

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

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.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

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

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

This study examines how different SCN2A de novo variants affect human neuron development and function using patient-derived iPSCs.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

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

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

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

This study identifies dynamic enhancer activity in the mouse cerebellum during development, discovers novel regulators, and links enhancers to autism-related variants.

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

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

GeneTerpret streamlines genomic variant interpretation by integrating multiple data sources and ACMG criteria to prioritize potentially causal variants for a given genome and phenotype.