Publications — Radcliffe Department of Medicine

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Protein-truncating variants in BSN are associated with severe adult-onset 2 obesity, type 2 diabetes and fatty liver disease

EMBERSON J., (2024), Nature Genetics

Rare coding variants in CHRNB2 reduce the likelihood of smoking.

Rajagopal VM. et al, (2023), Nat Genet

Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells.

Torres JM. et al, (2023), Wellcome Open Res, 8

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.

Akbari P. et al, (2021), Science, 373

Abdominal and gluteo-femoral markers of adiposity and risk of vascular-metabolic mortality in a prospective study of 150,000 Mexican adults

GNATIUC L. et al, (2021), European Journal of Preventive Cardiology

Low-intensity daily smoking and cause-specific mortality in Mexico: prospective study of 150 000 adults

LACEY BEN. et al, (2021), International Journal of Epidemiology

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.

Wesolowska-Andersen A. et al, (2020), Elife, 9

A multi-tissue transcriptome analysis of human metabolites guides interpretability of associations based on multi-SNP models for gene expression

NDUNGU A. et al, (2020), American Journal of Human Genetics

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J. et al, (2019), Nature, 570, 71 - 76

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data.

Fernández-Tajes J. et al, (2019), Genome Med, 11

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Mahajan A. et al, (2018), Nat Genet, 50, 1505 - 1513

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

Barbeira AN. et al, (2018), Nat Commun, 9

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.

Thurner M. et al, (2018), Elife, 7

Mechanistic studies of the yeast polyamine oxidase Fms1: kinetic mechanism, substrate specificity, and pH dependence.

Adachi MS. et al, (2010), Biochemistry, 49, 10440 - 10448

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