Pamela B. Sklar

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.

This study identifies correlates of risk for disinhibited behaviors in veterans using polygenic scores and electronic health records, finding strong associations with substance use disorders and related health outcomes.

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.

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

This study identifies schizophrenia genetic associations in East Asian and European populations, finding similar genetic effects across ancestries but highlighting challenges in polygenic risk prediction across groups.

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.

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

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.

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

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

This study identifies splicing variations in aging brains linked to Alzheimer’s Disease, finds genetic regulation of splicing, and highlights shared pathways with other neurodegenerative diseases.

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.

This paper validates EHR-based BD phenotyping algorithms by showing their genetic correlation with traditional BD cases, suggesting they identify genetically similar cases.

The paper identifies concordant transcriptional signatures of schizophrenia in hiPSC-derived neurons and post mortem brains, suggesting neurons better model genetic risk and recommends increasing cohort size in hiPSC studies.

The paper uses Bayesian modeling to analyze rare exonic variants in schizophrenia and neurodevelopmental disorders, identifying 1,551 risk genes for schizophrenia and 98 new risk genes for developmental disorders.

The paper uses transcriptomic imputation to identify schizophrenia risk genes across multiple brain regions, finding 71 associated genes and 36 enriched pathways.

This study uses transcriptomic imputation to identify 29 novel genes associated with bipolar disorder and its subtypes, revealing biological pathways related to oxidative stress and circadian rhythms.

The paper evaluates chromatin accessibility in prefrontal cortex samples from schizophrenia cases and controls, finding high heritability enrichment in open chromatin regions but no differential accessibility between groups.

The paper integrates GWAS and conditional eQTL data to identify schizophrenia risk loci with co-localization, finding 40 loci and six with conditional eQTL co-localization.