Elliott Rees

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 the effect of rare coding variants in schizophrenia-associated genes on generalised cognition in the UK Biobank using exome-sequencing 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 identifies rare genetic variants in pharmacogenes that influence clozapine metabolism in schizophrenia patients, with CYP1A2 variants showing the strongest effect.

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 identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

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

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

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.

This study performs a meta-analysis of Scandinavian schizophrenia exomes, identifying three genes associated with the disorder and highlighting shared genetic architecture with high-functioning autism.

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.

This study performs a transcriptome-wide association study to link schizophrenia risk variants to gene expression in the dorsolateral prefrontal cortex, identifying 89 genes associated with pre- and post-synaptic abnormalities.

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.

The paper investigates how genetic risk for schizophrenia and developmental delay relates to structural brain abnormalities in midline white matter.

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.

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