Michael A. Simpson

Huntingtin CAG repeat is a continuous modifier of brain structure and health vulnerability

This study shows that HTT CAG repeat length within the normal and intermediate range is associated with brain structure and neuropsychiatric risk, challenging the view of CAG repeats as purely categorical.

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

Investigating the Interplay Between Prematurity and Genetic Variation in the Context of Rare Developmental Disorders

The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

A genome-wide meta-analysis of palmoplantar pustulosis implicates Th2 responses and cigarette smoking in disease pathogenesis.

This paper conducts a genome-wide meta-analysis of palmoplantar pustulosis, identifying genetic associations with Th2 responses and cigarette smoking.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

Genetic variation within genes associated with mitochondrial function is significantly associated with later age at onset of Parkinson disease and contributes to disease risk

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

The paper identifies a rare variant in the NLRP7 gene associated with increased risk of ulcerative colitis through exome sequencing and genotyping in IBD families and cohorts.

De Novo Mutations Implicate Novel Genes With Burden Of Rare Variants In Systemic Lupus Erythematosus

This study identifies de novo mutations and rare variant burdens in SLE candidate genes, supporting their role in disease pathogenesis.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.