Benjamin M. Jacobs

The paper integrates positive selection signatures with genetic data to identify metabolically relevant loci in South Asians, finding the MAPT locus associated with insulin resistance.

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.

This study assesses the association between APOE genetic variants and dementia risk in British South Asians using healthcare records and genotyping data.

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.

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

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.

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

This study investigates gene-environment interactions in Multiple Sclerosis using UK Biobank data, finding significant interaction between childhood obesity and genetic risk.

This study compares vitamin D levels between people with multiple sclerosis and controls in the UK using remote sampling, finding higher levels in MS patients due to supplementation.

The paper investigates environmental and genetic risk factors for Parkinson's disease using UK Biobank data, showing gene-environment interactions and improved prediction with polygenic risk scores.

This paper uses summary-data-based Mendelian randomisation to identify druggable genetic targets for multiple sclerosis, finding 15 genes with causal links between methylation, expression, and disease susceptibility.