Lista de obras -

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 meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

artículo científico publicado en 2015

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

artículo científico publicado en 2020

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

artículo científico publicado en 2014

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

artículo científico publicado en 2014

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

artículo científico publicado en 2016

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

artículo científico publicado en 2020

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

artículo científico publicado en 2016

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

artículo científico publicado en 2017

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

artículo científico publicado en 2016

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

artículo científico publicado en 2013

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

artículo científico publicado en 2014

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

artículo científico publicado en 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

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

artículo científico publicado en 2017

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies

artículo científico publicado en 2016

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

artículo científico publicado en 2021

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

artículo científico publicado en 2016

Identification of nine new susceptibility loci for endometrial cancer

artículo científico publicado en 2018

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

artículo científico publicado en 2020

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

artículo científico publicado en 2016

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

artículo científico publicado en 2014

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

artículo científico publicado en 2020

Mendelian randomization analysis with survival outcomes

scientific article published on 12 September 2020

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

artículo científico publicado en 2016

Meta-analysis of gene-level tests for rare variant association

artículo científico publicado en 2013

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

article

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

artículo científico publicado en 2016

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

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 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

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

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

artículo científico publicado en 2015

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

artículo científico publicado en 2019

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

artículo científico publicado en 2019

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

artículo científico publicado en 2016

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

artículo científico publicado en 2015

Lista de obras de

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

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Association analysis identifies 65 new breast cancer risk loci.

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Genome-wide association study of germline variants and breast cancer-specific mortality

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

Identification of nine new susceptibility loci for endometrial cancer

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

Mendelian randomization analysis with survival outcomes

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

Meta-analysis of gene-level tests for rare variant association

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

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

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 and low-frequency coding variants alter human adult height

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

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

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

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

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture