Lista de obras - Jennifer E Huffman - Dominio Público Uruguay

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

artículo científico publicado en 2011

A general approach for haplotype phasing across the full spectrum of relatedness

artículo científico publicado en 2014

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

artículo científico publicado en 2015

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

Alternative splicing of alters the risk for severe COVID-19

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

Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

artículo científico publicado en 2011

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

Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

artículo científico publicado en 2014

Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels

artículo científico publicado en 2013

Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates

artículo científico publicado en 2011

Comparative performance of four methods for high-throughput glycosylation analysis of immunoglobulin G in genetic and epidemiological research

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

artículo científico publicado en 2020

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

artículo científico publicado en 2020

Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome

artículo científico publicado en 2012

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

artículo científico publicado en 2017

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.

artículo científico publicado en 2017

Examining the current standards for genetic discovery and replication in the era of mega-biobanks

artículo científico publicado en 2018

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

artículo científico publicado en 2017

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

artículo científico publicado en 2015

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

artículo científico publicado en 2015

Genetic evidence of assortative mating in humans

scholarly article

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

artículo científico publicado en 2013

Genetic predictors of fibrin D-dimer levels in healthy adults

artículo científico publicado en 2011

Genetic variants in RBFOX3 are associated with sleep latency

artículo científico publicado en 2016

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

artículo científico publicado en 2018

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

artículo científico publicado en 2015

Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin

artículo científico publicado en 2014

Genome-wide analysis of epistasis in body mass index using multiple human populations

artículo científico publicado en 2012

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

artículo científico publicado en 2013

Genome-wide association analysis identifies six new loci associated with forced vital capacity

artículo científico publicado en 2014

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease

scientific article published on 01 November 2019

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

artículo científico publicado en 2011

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Genome-wide association study identifies 74 loci associated with educational attainment

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

artículo científico publicado en 2012

Genome-wide association study of anthropometric traits in Korcula Island, Croatia

artículo científico publicado en 2009

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

artículo científico publicado en 2012

Genome-wide association uncovers shared genetic effects among personality traits and mood states

artículo científico publicado en 2012

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

scientific journal article

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation

artículo científico publicado en 2010

Glycomics meets lipidomics—associations of N-glycans with classical lipids, glycerophospholipids, and sphingolipids in three European populations

artículo científico publicado en 2011

Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

artículo científico publicado en 2014

Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigrees

artículo científico publicado en 2009

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

artículo científico publicado en 2013

Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.

artículo científico publicado en 2013

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

artículo científico publicado en 2015

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

scientific article published in Nature Communications

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

artículo científico publicado en 2016

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

artículo científico publicado en 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

artículo científico publicado en 2015

Meta-analysis of exome array data identifies six novel genetic loci for lung function

scientific article published on 12 January 2018

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

artículo científico publicado en 2011

Modulation of genetic associations with serum urate levels by body-mass-index in humans

artículo científico publicado en 2015

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

Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

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

article

Multi-ethnic genome-wide association study for atrial fibrillation

article

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

artículo científico publicado en 2013

Mutations in HNF1A result in marked alterations of plasma glycan profile

artículo científico publicado en 2012

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

artículo científico publicado en 2010

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

artículo científico publicado en 2014

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

artículo científico publicado en 2017

Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults

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

artículo científico publicado en 2017

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

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 variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

artículo científico publicado en 2015

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

artículo científico publicado en 2016

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

artículo científico publicado en 2015

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

artículo científico publicado en 2015

The TCF7L2 diabetes risk variant is associated with HbA₁(C) levels: a genome-wide association meta-analysis

artículo científico publicado en 2010

The association between galactosylation of immunoglobulin G and body mass index.

artículo científico publicado en 2013

The choline transporter Slc44a2 controls platelet activation and thrombosis by regulating mitochondrial function

scientific article published on 13 July 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Lista de obras de Jennifer E Huffman

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

A general approach for haplotype phasing across the full spectrum of relatedness

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

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Alternative splicing of alters the risk for severe COVID-19

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

Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies

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

Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels

Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolates

Comparative performance of four methods for high-throughput glycosylation analysis of immunoglobulin G in genetic and epidemiological research

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

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

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Directional dominance on stature and cognition in diverse human populations

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

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

Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.

Examining the current standards for genetic discovery and replication in the era of mega-biobanks

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

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

FTO genotype is associated with phenotypic variability of body mass index

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

Genetic evidence of assortative mating in humans

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Genetic predictors of fibrin D-dimer levels in healthy adults

Genetic variants in RBFOX3 are associated with sleep latency

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin

Genome-wide analysis of epistasis in body mass index using multiple human populations

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Genome-wide association analysis identifies six new loci associated with forced vital capacity

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease

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

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.

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

Genome-wide association study identifies 74 loci associated with educational attainment

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

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

Genome-wide association study of anthropometric traits in Korcula Island, Croatia

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

Genome-wide association uncovers shared genetic effects among personality traits and mood states

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

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

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

Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation

Glycomics meets lipidomics—associations of N-glycans with classical lipids, glycerophospholipids, and sphingolipids in three European populations

Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigrees

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies

Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

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

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

Modulation of genetic associations with serum urate levels by body-mass-index in humans

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

Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

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

Multi-ethnic genome-wide association study for atrial fibrillation

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

Mutations in HNF1A result in marked alterations of plasma glycan profile

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.