Michael C. O’Donovan

The paper shows rare genetic variants influence participation in cognitive tests of the UK Biobank, affecting the representativeness of the cohort and power of association studies.

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

This study identifies genetic variants differentially associated with schizophrenia and bipolar disorder using CC-GWAS, finding 19 loci with divergent effects and biological themes related to neuronal function.

This paper applies FINEMAP and SuSiE to fine-map schizophrenia risk loci, identifying new genes with high concordance between methods and validating them using LoFI and rare variant enrichment.

The paper investigates the effect of rare coding variants in schizophrenia-associated genes on generalised cognition in the UK Biobank using exome-sequencing data.

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

This study quantifies pharmacogenomic effect sizes for psychiatric drugs, finding larger effects for proximal outcomes like bioavailability than distal outcomes like efficacy and toxicity.

The paper examines how genetic risk for physical health conditions affects comorbidities in individuals with severe mental illness, finding stronger genetic associations than psychiatric risk factors.

This paper investigates how genetic liabilities shared and differentiating between schizophrenia and bipolar disorder relate to cognition and educational attainment using UK Biobank data.

This study identifies rare coding variants in STAG1 and ZNF136 associated with schizophrenia using exome sequencing data from 28,898 cases and 103,041 controls.

This paper introduces SuSiEx, a cross-population fine-mapping method that improves resolution and power by integrating data across ancestries, leading to more accurate identification of causal variants in complex traits and diseases.

The paper investigates genetic risk for schizophrenia by analyzing gene expression and regulatory elements in developing ganglionic eminence neurons.

This study identifies rare genetic variants in pharmacogenes that influence clozapine metabolism in schizophrenia patients, with CYP1A2 variants showing the strongest effect.

This paper introduces FLAMES, a framework that improves gene prioritization in GWAS loci by integrating SNP-based and convergence-based evidence, outperforming single-modality approaches.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

This study identifies aberrant CPEB4 splicing and downstream mis-expression of SCZ-risk genes as a novel etiological mechanism in schizophrenia.

The paper analyzes Alzheimer's disease polygenic risk scores using RNA-sequencing to identify novel biological pathways and common mechanisms between case/control classification and PRS associations.

This study identifies neurogenic transcriptional programs linked to neuropsychiatric disorders and cognition using DLG2 knockout models and transcriptomic data.

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

The paper identifies shared disruptive coding mutations between schizophrenia, autism spectrum disorders, and other developmental disorders, suggesting overlapping molecular aetiology.

This study identifies genetic variants shared between schizophrenia and alcohol use disorder, finding both convergent and divergent effects and evidence of brain tissue expression.

The paper examines the developmental expression of genes related to voltage-gated cation channels and their association with psychiatric disorders, finding that gene expression patterns vary with age and disorder type.

This paper uses Mendelian randomisation to examine the causal effect of antihypertensive drugs on psychiatric disorders, finding an increased schizophrenia risk with lower ACE gene expression.

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

The paper shows that activating neurotrophin receptors with BDNF mimetics can rescue cognitive and synaptic deficits caused by Cacna1c mutations in rats.

The paper examines the genetic association of FMRP targets with schizophrenia, major depressive disorder, and bipolar disorder, finding enrichment for risk alleles and variants in these disorders.

This study identifies de novo copy number variants in children with ADHD, finding a higher mutation rate compared to controls and associations with known neurodevelopmental disorder loci.

The paper investigates the relationship between jumping to conclusions bias, IQ, psychosis, and polygenic risk scores in a case-control study, finding that IQ significantly predicts JTC bias while schizophrenia PRS does not.

This study identifies DNA methylation changes in blood samples from psychosis patients, including treatment-resistant schizophrenia, and links them to biological age, smoking, and cellular composition.