Lista de obras -

A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets

artículo científico publicado en 2007

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

artículo científico publicado en 2018

A Long Non-coding RNA, LOC157273, Is an Effector Transcript at the Chromosome 8p23.1-PPP1R3B Metabolic Traits and Type 2 Diabetes Risk Locus

scientific article published on 10 July 2020

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study

artículo científico publicado en 2017

A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study

artículo científico publicado en 2007

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

artículo científico publicado en 2021

A method of moments estimator for random effect multivariate meta-analysis

artículo científico publicado en 2012

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study

article

Age-related clonal hematopoiesis associated with adverse outcomes

artículo científico publicado en 2014

An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group

artículo científico publicado en 2016

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

artículo científico publicado en 2017

Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study

artículo científico publicado en 2009

BMI modifies associations of IL-6 genotypes with insulin resistance: the Framingham Study

artículo científico publicado en 2006

Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study

artículo científico publicado en 2008

Deriving stratified effects from joint models investigating gene-environment interactions

scientific article published on 18 June 2020

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

artículo científico publicado en 2020

Distribution and medical impact of loss-of-function variants in the Finnish founder population

artículo científico publicado en 2014

Efficient gene-environment interaction tests for large biobank-scale sequencing studies

scientific article published on 30 August 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

artículo científico publicado en 2017

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

article by Jason Flannick et al published 22 May 2019 in Nature

Exome-wide association study of plasma lipids in >300,000 individuals

artículo científico publicado en 2017

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genetic Loci and Physiologic Pathways Involved in Gestational Diabetes Implicated Through Clustering

artículo científico publicado en 2020

Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms. ⬇️

artículo científico publicado en 2010

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

scientific journal article

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Genome-wide association with diabetes-related traits in the Framingham Heart Study

artículo científico publicado en 2007

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

artículo científico publicado en 2012

Genotype score in addition to common risk factors for prediction of type 2 diabetes

artículo científico publicado en 2008

Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study

artículo científico publicado en 2008

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

artículo científico publicado en 2015

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

artículo científico publicado en 2019

Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.

artículo científico publicado en 2009

Independent test assessment using the extreme value distribution theory

artículo científico publicado en 2016

Mapping quantitative traits in unselected families: algorithms and examples

artículo científico publicado en 2009

Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients

artículo científico publicado en 2011

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol

artículo científico publicado en 2011

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

artículo científico publicado en 2019

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

artículo científico publicado en 2019

Multiple testing in the genomics era: findings from Genetic Analysis Workshop 15, Group 15.

scientific article published on January 2007

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

artículo científico publicado en 2016

Opportunities and challenges for the use of common controls in sequencing studies

artículo científico publicado en 2022

Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits

artículo científico publicado en 2008

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Pathway analysis following association study

artículo científico publicado en 2011

Prosaposin is a regulator of progranulin levels and oligomerization

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

artículo científico publicado en 2019

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

artículo científico publicado en 2012

TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH).

artículo científico publicado en 2018

TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study

artículo científico publicado en 2009

Testing the role of predicted gene knockouts in human anthropometric trait variation

artículo científico publicado en 2016

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

artículo científico publicado en 2016

The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

artículo científico publicado en 2007

The challenge of detecting epistasis (G x G interactions): Genetic Analysis Workshop 16

artículo científico publicado en 2009

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes

artículo científico publicado en 2015

The type 2 deiodinase (DIO2) A/G polymorphism is not associated with glycemic traits: the Framingham Heart Study

artículo científico publicado en 2007

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

artículo científico publicado en 2016

Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis

artículo científico publicado en 2023

Variants at the endocannabinoid receptor CB1 gene (CNR1) and insulin sensitivity, type 2 diabetes, and coronary heart disease

artículo científico publicado en 2011

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

Variants in the CNR1 and the FAAH genes and adiposity traits in the community

artículo científico publicado en 2009

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention

artículo científico publicado en 2017

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

artículo científico publicado en 2017

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

artículo científico publicado en 2014

Lista de obras de

A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

A Long Non-coding RNA, LOC157273, Is an Effector Transcript at the Chromosome 8p23.1-PPP1R3B Metabolic Traits and Type 2 Diabetes Risk Locus

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study

A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

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

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

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A method of moments estimator for random effect multivariate meta-analysis

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study

Age-related clonal hematopoiesis associated with adverse outcomes

An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

Association of variants in RETN with plasma resistin levels and diabetes-related traits in the Framingham Offspring Study

BMI modifies associations of IL-6 genotypes with insulin resistance: the Framingham Study

Common variants in the adiponectin gene (ADIPOQ) associated with plasma adiponectin levels, type 2 diabetes, and diabetes-related quantitative traits: the Framingham Offspring Study

Deriving stratified effects from joint models investigating gene-environment interactions

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Efficient gene-environment interaction tests for large biobank-scale sequencing studies

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

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

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

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

Exome-wide association study of plasma lipids in >300,000 individuals

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

Genetic Loci and Physiologic Pathways Involved in Gestational Diabetes Implicated Through Clustering

Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms. ⬇️

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

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

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

Genome-wide association with diabetes-related traits in the Framingham Heart Study

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

Genotype score in addition to common risk factors for prediction of type 2 diabetes

Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.

Independent test assessment using the extreme value distribution theory

Mapping quantitative traits in unselected families: algorithms and examples

Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

Multiple testing in the genomics era: findings from Genetic Analysis Workshop 15, Group 15.

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

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

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

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

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

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

Opportunities and challenges for the use of common controls in sequencing studies

Ordered stratification to reduce heterogeneity in linkage to diabetes-related quantitative traits

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

Pathway analysis following association study

Prosaposin is a regulator of progranulin levels and oligomerization

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

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

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

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

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

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Rare and low-frequency coding variants alter human adult height

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

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

TCF7L2 Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH).

TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study

Testing the role of predicted gene knockouts in human anthropometric trait variation

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

The challenge of detecting epistasis (G x G interactions): Genetic Analysis Workshop 16

The genetic architecture of type 2 diabetes

The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes