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Author Details

Amy J Swift
2004
68
46
PMIDPaper TitleJournal TitlePublished Year
37386251Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.Nat Genet2023
37603758Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.Proc Natl Acad Sci U S A2023
37858332Functional interrogation of twenty type 2 diabetes-associated genes using isogenic human embryonic stem cell-derived β-like cells.Cell Metab2023
37214922Functional interrogation of twenty type 2 diabetes-associated genes using isogenic hESC-derived β-like cells.bioRxiv2023
37333221Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 hours.bioRxiv2023
36757889Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis.Proc Natl Acad Sci U S A2023
32818918Cannabinoid use in psychotic patients impacts inflammatory levels and their association with psychosis severity.Psychiatry Res2020
31984226Single-cell transcriptomics from human pancreatic islets: sample preparation matters.Biol Methods Protoc2020
31064750Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.Blood2019
31076557Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle.Proc Natl Acad Sci U S A2019
31160809Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2019
29273807Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29549330Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29549329Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29360107Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2018
29257133Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2017
28341696A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Diabetes2017
28681861A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Nat Commun2017
28448500Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.PLoS Genet2017
28443625Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.Nat Commun2017
28832619Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.PLoS Genet2017
27618452The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.Nat Genet2016
27355579Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2016
27398621The genetic architecture of type 2 diabetes.Nature2016
27618447Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.Nat Genet2016
27876822A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.Nat Commun2016
26426971The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.PLoS Genet2015
25673413Genetic studies of body mass index yield new insights for obesity biology.Nature2015
25673412New genetic loci link adipose and insulin biology to body fat distribution.Nature2015
24497850Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.PLoS Genet2014
24296717Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.Diabetes2014
23555291Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.PLoS Genet2013
23903355Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.Diabetes2013
23754948Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.PLoS Genet2013
24097068Discovery and refinement of loci associated with lipid levels.Nat Genet2013
24097064Common variants associated with plasma triglycerides and risk for coronary artery disease.Nat Genet2013
23563607Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.Nat Genet2013
23314155Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene.Nucleic Acids Res2013
22182842Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.J Clin Invest2012
22479202Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.PLoS Genet2012
22581228A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.Nat Genet2012
22340368Human longevity and common variations in the LMNA gene: a meta-analysis.Aging Cell2012
22238593A genome-wide association search for type 2 diabetes genes in African Americans.PLoS One2012
21873549Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.Diabetes2011
20878384A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.Diabetologia2011
21909115Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.Nature2011
20185807Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.Diabetes2010
20935630Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.Nat Genet2010
20935629Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.Nat Genet2010
20858683Common variants at 10 genomic loci influence hemoglobin A⿁(C) levels via glycemic and nonglycemic pathways.Diabetes2010
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Stanford University School of Medicine
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William Harvey Research Institute, Queen Mary University of London
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King's College London
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University of Oxford
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Center for Precision Health Research, National Human Genome Research Institute
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