Eli A. Stahl

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis.

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease

Co-expression-based models improve eQTL predictions and highlightnovel transcriptome-wide genes associated with schizophrenia

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

Distinct genetic liability profiles define clinically relevant patient strata across common diseases

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

Non-additive effects of schizophrenia risk genes reflect convergent downstream function

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.

Rare coding variants in CHRNB2 reduce the likelihood of smoking

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

Convergent and non-additive impact of schizophrenia risk genes in human neurons

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.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

Rare schizophrenia risk variant burden is conserved in diverse human populations

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

Rare protein coding variants implicate genes involved in risk of suicide death

The paper identifies five rare SNPs associated with suicide death using genetic data from the USGRS and controls, highlighting their potential role in suicide risk and related biological processes.

Identifying Nootropic Drug Targets via Large-Scale Cognitive GWAS and Transcriptomics

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

The paper reports exome sequencing findings in bipolar disorder, identifying AKAP11 as a shared risk gene with schizophrenia through ultra-rare protein-truncating variants.

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

The paper examines sex-differentiated genetic effects across neuropsychiatric and behavioral traits using GWAS summary statistics and finds small, polygenic sex differences with enriched neuron-related genes.

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.

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.

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.

This paper identifies 15 novel serum urate loci and links them to 44 genes, revealing new molecular mechanisms of urate control through genomic and eQTL analysis.

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.

The genetics of the mood disorder spectrum: genome-wide association analyses of over 185,000 cases and 439,000 controls

This study identifies 73 genome-wide significant loci for mood disorders, revealing shared and distinct genetic factors between major depressive disorder and bipolar disorder.

Characterization of single gene copy number variants in schizophrenia

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.

Penetrance and pleiotropy of polygenic risk scores for schizophrenia in 106,160 patients across four healthcare systems

This study evaluates polygenic risk scores for schizophrenia in electronic health records, finding strong associations with schizophrenia and pleiotropic effects on other psychiatric and medical conditions.

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

Genomewide association study identifies 30 loci associated with bipolar disorder

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

Conditional GWAS analysis identifies putative disorder-specific SNPs for psychiatric disorders

This study uses conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders, finding some variants with reduced pleiotropy effects.

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders.

Cross-disorder meta-analysis of eight psychiatric GWAS (232,964 cases, 494,162 controls) reports 109 loci shared by two or more disorders and three groups of correlated disorders.

Genome-wide association study implicates CHRNA2 in cannabis use disorder

This paper identifies a genome-wide significant risk locus for cannabis use disorder, implicating CHRNA2 and linking it to cognitive performance.

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

The study finds that rare copy number variants (CNVs) contribute to bipolar disorder risk primarily in schizoaffective disorder bipolar type cases, with differences in CNV burden and schizophrenia polygenic risk scores between subtypes.

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.

Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

The paper introduces a Bayesian framework to prioritize risk genes for complex diseases by integrating gene-set information with variant counts, identifying novel epilepsy risk genes and linking them to immune pathways and drug targets.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.