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List of works by Inês Barroso

A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits

scientific article

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

scientific article

A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample

scientific article

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

scientific article published on June 2016

A linear mixed-model approach to study multivariate gene–environment interactions

article

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

scholarly article

A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits

scientific article published on 21 December 2016

ADCY3, neuronal primary cilia and obesity.

scientific article published on 26 January 2018

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations

scientific article published on 10 January 2007

An activating mutation of AKT2 and human hypoglycemia.

scientific article

Analysis of TBC1D4 in patients with severe insulin resistance.

scientific article published on 27 March 2010

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes

scientific article published on March 2007

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

scientific article published on October 2016

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis

scientific article published in 2022

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

scientific article published in Nature Communications

Author Correction: Genomics of disease risk in globally diverse populations

scientific article published on 01 September 2019

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations

scientific article

Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action

scientific article

Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

scientific article

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

scientific article published on January 2007

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

scientific article published in Nature Communications

Comment on "A common genetic variant is associated with adult and childhood obesity"

scientific article published on January 2007

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

scientific article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants in WFS1 confer risk of type 2 diabetes

scientific article published on July 2007

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Complex disease: pleiotropic gene effects in obesity and type 2 diabetes

scientific article published on 01 December 2005

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

scientific article (publication date: 27 July 2001)

Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study

scientific article

Correction: Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action

scientific article

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

scientific article published on 25 April 2013

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study

scientific article

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk

scientific article

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

scientific article

Differentiating campomelic dysplasia from Cumming syndrome

scientific article published on 01 May 2005

Digenic inheritance of severe insulin resistance in a human pedigree

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Disentangling the genetics of lean mass

article

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

scientific article

Distinct genetic architectures and environmental factors associate with host response to the γ2-herpesvirus infections

scientific article published on 31 July 2020

Do Genetic Factors Modify the Relationship Between Obesity and Hypertriglyceridemia? Findings From the GLACIER and the MDC Studies

scientific article

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

scientific article

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

scientific article published in 2011

Editorial overview: Molecular and genetic basis of [metabolic] disease: Genes, glucose, glycerol and girth: metabolism in our DNA

scientific article published on 01 June 2018

Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function

scientific article

Erratum to: Making sense of big data in health research: towards an EU action plan

scientific article

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Established BMI-associated genetic variants and their prospective associations with BMI and other cardiometabolic traits: the GLACIER Study

scientific article

Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population

scientific article

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

scientific article published on 30 June 2008

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

scientific article published on 01 April 2004

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

scientific article

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

scientific article

Gene-Lifestyle Interactions in Complex Diseases: Design and Description of the GLACIER and VIKING Studies

scientific article

Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study

scientific article

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

scientific article

Genetic aetiology of glycaemic traits: approaches and insights

scientific article published in October 2017

Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study

scientific article

Genetic evidence of assortative mating in humans

article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.

scientific article published on March 2004

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.

scientific article published in October 2002

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation in LIN28B is associated with the timing of puberty

scientific article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genetics of Type 2 diabetes.

scientific article

Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals

scientific article published on 01 July 2019

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

scientific journal article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study

scientific article published on 13 November 2020

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

scientific article

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association studies and type 2 diabetes ⬇️

scientific article published on March 1, 2011

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

Genome-wide association study identifies five loci associated with lung function

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

scientific article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

scientific article published on February 2016

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

article

Genome-wide sequence analysis of Kaposi's Sarcoma-associated Herpesvirus shows diversification driven by recombination

scientific article published on 01 October 2018

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomics of disease risk in globally diverse populations

scientific article published on 24 June 2019

Genomics: ENCODE explained

scientific article

Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure

scientific article published on 31 January 2008

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

scientific article

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

scientific article

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

scientific article published on 2 January 2013

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

scientific article

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

scientific article

IRS2 variants and syndromes of severe insulin resistance

scientific article published on 18 April 2009

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity

scientific article

Innate biology versus lifestyle behaviour in the aetiology of obesity and type 2 diabetes: the GLACIER Study

scientific article published on December 2015

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

scientific article published on 20 October 2016

Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

scientific article published on 13 June 2009

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

scientific article

LDL-cholesterol concentrations: a genome-wide association study

scientific article

Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies

scientific article published on March 2007

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies

scientific article (publication date: 2014)

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

scientific article published on 03 June 2010

Lyplal1 is dispensable for normal fat deposition in mice

scientific article published on 26 October 2017

Making sense of big data in health research: Towards an EU action plan

scientific article

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

scientific article

Mendelian Randomization Analysis of Hemoglobin A1c as a Risk Factor for Coronary Artery Disease

scientific article published on 18 January 2019

Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies

scientific article (publication date: October 2011)

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

scientific article published in April 2009

Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes

scientific article published on 25 January 2006

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

scientific article

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

scientific article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels

scientific article published on 13 March 2012

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

scientific article published on October 2006

Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

scientific article published on 17 November 2016

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

scientific article published on 12 October 2020

PARL Leu262Val is not associated with fasting insulin levels in UK populations

scientific article

PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.

scientific article published in December 2003

PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge.

scientific article published on 10 January 2007

PPARGC1A genotype (Gly482Ser) predicts exceptional endurance capacity in European men

scientific article published on 10 February 2005

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

scientific article

Perilipin deficiency and autosomal dominant partial lipodystrophy

scientific article published on February 2011

Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes

scientific article published on 20 September 2006

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

scientific article published on 26 August 2008

Prospective functional classification of all possible missense variants in PPARG.

scientific article published on 17 October 2016

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

scientific article published on 29 January 2012

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

scientific article published on 29 June 2017

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

scientific article published on 17 June 2013

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

scientific article published in August 2013

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden

scientific article

Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

scientific article published on 12 April 2019

Sugar-sweetened beverage consumption and genetic predisposition to obesity in 2 Swedish cohorts

scientific article published on 27 July 2016

TCF7L2 polymorphisms modulate proinsulin levels and beta-cell function in a British Europid population

scientific article published on 06 April 2007

Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program

scientific article published on 4 December 2007

The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals

scientific article published on 08 May 2008

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish

scientific article published in December 2015

The UK10K project identifies rare variants in health and disease

scientific article

The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals

scientific article published on 13 March 2007

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

scientific article

The emerging use of zebrafish to model metabolic disease

scientific article

The flashfm approach for fine-mapping multiple quantitative traits

scientific article published in 2021

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The genetics of obesity: FTO leads the way.

scientific article

The importance of increasing population diversity in genetic studies of type 2 diabetes and related glycaemic traits

scientific article published in 2021

The influence of rare variants in circulating metabolic biomarkers

scientific article published on 09 March 2020

The link between family history and risk of type 2 diabetes is not explained by anthropometric, lifestyle or genetic risk factors: the EPIC-InterAct study

scientific article

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

scientific article published on 14 December 2017

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

scientific article

The trans-ancestral genomic architecture of glycemic traits

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

Truncation of POC1A associated with short stature and extreme insulin resistance

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Underlying genetic models of inheritance in established type 2 diabetes associations

scientific article published on 14 July 2009

Variants in MTNR1B influence fasting glucose levels

scientific article

Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot.

scientific article published on 27 November 2017

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