Michael S. Breen

The paper uses long-read transcriptomics to analyze human cortical cell types, revealing extensive isoform diversity in glial cells and identifying novel transcripts with disease-relevant splice variants.

This study identifies ADARB1 overexpression in T21 fetal brain due to trisomy 21, leading to increased A-to-I RNA editing and altered GRIA gene recoding.

The paper identifies 38,731 edQTLs in 3,554 genes through a meta-analysis of A-to-I RNA editing in the human brain and links 24 GWAS loci for neurological disorders to edQTLs.

The paper analyzes RNA editing in myeloid cells under inflammatory stimulation, finding that C-to-U editing has a larger effect on proteome recoding compared to A-to-I editing.

This study examines the transient blood transcriptomic changes in children with ADNP syndrome following ketamine treatment, revealing acute immune-related gene expression alterations that revert to baseline within a week.

This study compares A-to-I RNA editing in postmortem and living human brain tissues, revealing significant differences in editing levels and their association with cellular processes and neurological conditions.

The paper shows acetate supplementation improves social deficits and changes gene expression in the prefrontal cortex of Shank3-deficient mice.

The paper examines RNA editing changes during human cortical development, identifying expansion of editing sites and their genetic regulation linked to neurological disorders.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

The paper quantifies RNA editing in human brain cell types, identifies cell-specific editing sites, and discovers cis-editing quantitative trait loci linked to genetic regulation.

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

The paper uses hiPSC-derived neural cells from PMS patients and siblings to identify transcriptional changes, finding altered Wnt signaling and shared ASD-related genes.

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

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.

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.

The paper investigates how glucocorticoid receptor activation affects neuronal development in fetal human brain organoids using single-cell transcriptomics, finding cell-type specific impacts on differentiation and behavior-related gene expression.

The paper identifies 579 proteins associated with cognitive trajectory in aging using proteomic analysis of human prefrontal cortex, highlighting mitochondrial and synaptic processes linked to cognitive stability.

The paper identifies SNRNP35 as a trauma type-specific PTSD gene through analysis of genetically regulated gene expression in PTSD cases and controls.

This study shows that deleting the KH1 domain of Fmr1 in rats causes attention deficits and transcriptional changes in the medial prefrontal cortex, similar to FXS, and identifies potential therapeutic targets.

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.

This study profiles proteomic changes across postnatal human cortical development, identifies age-related protein modules, and links them to RNA expression and genetic risk loci for intellectual disability.

The paper examines RNA editing changes in schizophrenia by analyzing postmortem brain samples and identifies genetic regulators and associations with schizophrenia GWAS loci.

The paper identifies gene expression signatures in cord blood linked to maternal psychological distress and adverse childhood outcomes, revealing molecular pathways associated with neurodevelopmental disorders.

This study identifies shared and sex-specific inflammatory pathways in PTSD through a meta-analysis of blood transcriptomes across different trauma types and biological sexes.