Michael S. Breen

Long-read transcriptomics of purified human cortical cell types exposes glial isoform complexity and disease-relevant transcript architecture

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.

Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain

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.

Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease

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.

Cytosine-to-uracil RNA editing is upregulated by pro-inflammatory stimulation of myeloid cells

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.

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

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.

Divergent landscapes of A-to-I editing in postmortem and living human brain

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.

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice

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

Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development

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

Population-level variation of enhancer expression identifies novel disease mechanisms in the human brain

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

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

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

Cellular and genetic drivers of RNA editing variation in the human brain

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.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

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.

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan McDermid syndrome and autism

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.

Functional annotation of rare structural variation in the human brain

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.

Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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.

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

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

Cell-type specific impact of glucocorticoid receptor activation on the developing brain

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.

Large-scale proteomic analysis of human prefrontal cortex identifies proteins associated with cognitive trajectory in advanced age

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.

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

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

Disruption of the KH1 domain of Fmr1 leads to transcriptional alterations and attentional deficits in rats

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.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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.

Temporal proteomic profiling of postnatal human cortical development

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.

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

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

Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

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.

PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex And Modes Of Trauma

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.