Michael R. Johnson

Transcription factor binding and individual genetic risk for valproate teratogenicity

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

TP53 and RB1 are predictive genetic biomarkers for sensitivity to cytarabine in gliomas

The paper identifies TP53 and RB1 wild-type status as predictors of cytarabine sensitivity in gliomas using CRISPRi screening and machine learning analysis.

Single-cell Mendelian randomisation identifies cell-type specific genetic effects on human brain disease and behaviour

The paper uses single-cell Mendelian randomisation to identify cell-type specific genetic effects on brain disease and behaviour, revealing 118 genes with causal associations to 16 brain phenotypes.

Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy Body diseases

This study uses transcriptomic profiling to identify common and distinct molecular features across Lewy Body diseases, highlighting RNA splicing dysregulation and potential therapeutic targets.

Signatures Of TSPAN8 Variants Associated With Human Metabolic Regulation And Diseases

The paper identifies TSPAN8 variants associated with metabolomic regulation and metabolic diseases using CNV analysis and functional characterization in human induced pluripotent stem cells.

Re-evaluation of SNP heritability in complex human traits

The paper re-evaluates SNP heritability estimates for 19 human traits using an improved model, finding higher heritability estimates compared to existing methods and lower contribution from DNaseI hypersensitivity sites.

A Systems-Level Framework For Drug Discovery Identifies Csf1R As A Novel Anti-Epileptic Drug Target

This paper introduces CRAFT, a computational framework for drug target identification, and validates Csf1R as a novel anti-epileptic target using pre-clinical models.