Michael John Owen

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.

The paper investigates whether common genetic variants contribute to neurodevelopmental risks in children with cleft lip/palate, finding no strong genetic correlation with psychiatric traits but noting independent clinical relevance of polygenic risk scores.

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.

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.

The paper investigates the association between neurodevelopmental copy number variants (ND-CNVs) and increased risk of internalising and cardiometabolic multimorbidity using UK Biobank data.

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 study examines irritability in young people with neurodevelopmental copy number variants (ND-CNVs) and finds it is more common than in controls, independent of psychiatric diagnoses or IQ.

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

This study shows that CYFIP1 regulates cortical neurogenesis through oxysterol-liver X receptor signaling, with implications for genetic disorders linked to 15q11.2 CNVs.

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

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

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.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

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.

This study shows that complement components C3 and C3aR differentially affect innate anxiety and conditioned fear in mice, linking complement pathways to psychiatric disorder risk.

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

This study investigates the effects of 1q21.1 deletion and duplication on neuronal development using induced pluripotent stem cells and shows reciprocal phenotypes and potential therapeutic targets.

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.

The paper shows that reduced EHMT1 activity decreases NRSF/REST protein, leading to abnormal neuronal gene expression and neurodevelopmental issues in human iPSCs.

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.