Jessica Johnson

This study identifies pathway-level polygenicity in anorexia nervosa by constructing pathway-based polygenic risk scores and finding 497 associated pathways.

This study compares gene expression in living and postmortem human brain tissue, finding significant differences that challenge the assumption that postmortem data accurately represents living brain gene expression.

The paper identifies BMI-dynamic gene expression loci in the brain and gut, showing how BMI interacts with genetic variants to influence gene expression and disease-related pathways.

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 uses evolutionary constraint scores to identify functional genomic regions and finds they are enriched for variants associated with common diseases.

The paper shows that non-additive effects of schizophrenia risk genes are due to convergent downstream transcriptomic effects and sub-additive changes, suggesting functional redundancy as a mechanism for non-additivity.

The paper uses transcriptomic imputation to identify gene expression changes in brain tissues and blood linked to chronic pain and finds associations with clinical traits.

This study examines the genetic and clinical associations of adult weight trajectories using EHR data, identifying disease links and genetic risk factors for weight patterns.

This study uses transcriptomic imputation to translate AN GWAS findings into gene expression associations, revealing 47 genes linked to AN and their clinical consequences in a biobank cohort.

This study shows that schizophrenia risk genes have convergent and non-additive transcriptomic effects when perturbed together in human neurons, suggesting functional redundancy and complex interactions.

The paper identifies acetylated chromatin domains associated with dysfunction in schizophrenia and bipolar disorder by analyzing histone modifications in prefrontal cortex samples.

The paper investigates the conservation of rare schizophrenia risk variants across diverse populations and finds consistent burden in constrained genes.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

The paper examines polygenic risk scores for PTSD severity and chronicity in World Trade Center responders, finding significant genetic contributions and associations with brain imaging phenotypes.

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 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 investigates the role of single-gene copy number variants in schizophrenia risk using exome-sequencing data from a Swedish cohort, identifying significant deletions in voltage-gated calcium channels.

This study identifies 30 genome-wide significant loci associated with bipolar disorder, including novel genes involved in ion channels, neurotransmitters, and synaptic components.

The paper analyzes allelic expression bias in schizophrenia using RNA-seq data to assess imprinted gene expression and its relationship with age, ancestry, and disease.