Andrew J. Pocklington

Rapid and reproducible in vitro generation of human parvalbumin-expressing cortical interneurons

This paper describes a method to generate human parvalbumin-expressing cortical interneurons in vitro within 50 days without gene forcing or co-culture, validated by single-cell transcriptomics.

Oxysterol-liver X receptor signaling mediates CYFIP1 regulation of cortical neurogenesis

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

Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

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

DLG2 knockout reveals neurogenic transcriptional programs underlying neuropsychiatric disorders and cognition

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

Genetic association of FMRP targets with psychiatric disorders

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.

A Transcriptome Wide Association Study implicates specific pre- and post-synaptic abnormalities in Schizophrenia

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.

Novel Insight into the Aetiology of Autism Spectrum Disorder Gained by Integrating Expression Data with Genome-wide Association Statistics

This study integrates ASD GWAS summary statistics with gene expression data to identify differentially expressed genes in ASD and estimate heritability explained by predicted expression.

Cortical patterning of abnormal morphometric similarity in psychosis is associated with brain expression of schizophrenia related genes

The paper links reduced cortical morphometric similarity in psychosis to the expression of schizophrenia-related genes in specific brain regions.

Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in SLC6A1 in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes.

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

Dynamic expression of risk genes for schizophrenia and bipolar disorder across development

The paper examines the dynamic expression of risk genes for schizophrenia and bipolar disorder across developmental stages in brain regions, finding distinct expression patterns between the two disorders.

Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channels

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.