Richard C. Trembath

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 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.

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.

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

The paper identifies a gene co-expression module, the pink module, associated with PAH severity, genetic risk, vascular cell types, and therapeutic targets through multiomics integration.

This study assesses the transferability of genetic loci and polygenic scores for cardiometabolic traits from European-ancestry samples to British Pakistanis and Bangladeshis, finding high transferability for most loci but variable performance for polygenic scores.

This paper constructs a type 2 diabetes polygenic risk score for British Pakistanis and Bangladeshis, integrates it with a clinical tool to improve risk prediction, and identifies genetic differences between disease subgroups.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.

The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.

ELGH is a population genomics study of British-Bangladeshi and British-Pakistani people in east London, combining health records with genetic data to study disease and genetic influences.

This paper identifies shared genetic risk factors between schizophrenia and 19 immune diseases, including three variants with pleiotropic effects and significant genetic correlations for several immune diseases.

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

The paper investigates genetic correlations between psychiatric and immune-related phenotypes using GWAS summary data, finding significant shared genetic variants.

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.