George Kirov

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.

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

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 links reduced reproductive success to selective constraint on human genes, showing that damaging variants are associated with increased childlessness, particularly in males.

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

The paper analyzes diffusion tensor imaging data from UK Biobank to show that 15q11.2 copy-number variation affects white matter and is associated with cognitive performance.

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.

The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.

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 estimates the rate of de novo CNVs in healthy individuals using UK Biobank data and compares it to previous studies.

The paper examines the effects of pathogenic CNVs on biochemical and haematology markers using UK Biobank data, finding significant associations and unexpected lipid level reductions in CNV carriers.

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 conducts the largest genetic association analysis of psychotic experiences in the UK Biobank, identifying four genome-wide significant loci and showing shared genetic risk with schizophrenia, depression, bipolar disorder, and neurodevelopmental disorders.

The paper analyzes rare and common alleles in schizophrenia trios, identifying rare missense variants in SLC6A1 and confirming the role of neurodevelopmental disorder genes.

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.

The paper examines subcortical brain volume differences between schizophrenia-associated CNV carriers and non-carriers in UK Biobank, finding reduced volumes in some structures and partial mediation by cognitive impairment.

The paper investigates the effects of pathogenic CNVs on physical traits in UK Biobank adults, finding 214 significant associations with traits like weight and body fat.

This study examines the medical consequences of pathogenic CNVs in adults using UK Biobank data, finding significant associations between CNVs and various health outcomes.

The paper investigates the role of rare copy number variants (CNVs) in depression, finding that neurodevelopmental CNVs are associated with increased depression risk.

The paper identifies an excess of rare loss-of-function and missense mutations in voltage-gated sodium channels and synaptic genes associated with schizophrenia using large-scale sequencing and meta-analysis.

The paper confirms a polygenic effect on negative symptoms in schizophrenia using GWAS, identifies novel loci, and highlights the need for larger samples.

This study identifies 50 novel schizophrenia GWAS loci and shows common risk variants are enriched in mutation-intolerant genes maintained by background selection.