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Lista de obras de Nicole Soranzo

A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

artículo científico publicado en 2012

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

article

A bird's-eye view of Italian genomic variation through whole-genome sequencing

scientific article published on 29 November 2019

A brief history of human disease genetics

artículo científico publicado en 2020

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

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

artículo científico publicado en 2011

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

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

artículo científico publicado en 2014

A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation

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 confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose

artículo científico publicado en 2009

A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length.

scientific article published on 08 April 2009

A genome-wide association study identifies three loci associated with mean platelet volume

artículo científico publicado en 2008

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

artículo científico publicado en 2009

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium.

artículo científico publicado en 2009

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A genome-wide perspective of genetic variation in human metabolism

artículo científico publicado en 2009

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

artículo científico publicado en 2011

A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study

artículo científico publicado en 2010

A loss of function screen of identified genome-wide association study Loci reveals new genes controlling hematopoiesis

artículo científico publicado en 2014

A map of transcriptional heterogeneity and regulatory variation in human microglia

scientific article published on 03 June 2021

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

artículo científico publicado en 2013

A multiple-phenotype imputation method for genetic studies

artículo científico publicado en 2016

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

artículo científico publicado en 2009

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A single-nucleotide polymorphism tagging set for human drug metabolism and transport

artículo científico publicado en 2004

ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach

article

An atlas of genetic influences on human blood metabolites

artículo científico publicado en 2014

An atlas of genetic scores to predict multi-omic traits

scientific article published on 29 March 2023

An atlas of genetic scores to predict multi-omic traits

An example of microsatellite length variation in the mitochondrial genome of conifers

artículo científico publicado en 1999

An interactive genome browser of association results from the UK10K cohorts project

artículo científico publicado en 2015

Ancient and recent positive selection transformed opioid cis-regulation in humans

artículo científico publicado en 2005

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

artículo científico publicado en 2010

Association of genetic loci: replication or not, that is the question.

artículo científico publicado en 2005

Association of the 9p21.3 locus with risk of first-ever myocardial infarction in Pakistanis: case-control study in South Asia and updated meta-analysis of Europeans

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

artículo científico publicado en 2018

BLUEPRINT to decode the epigenetic signature written in blood.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach

artículo científico publicado en 2013

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

artículo científico publicado en 2008

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

artículo científico publicado en 2009

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

artículo científico publicado en 2009

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

artículo científico publicado en 2010

Common genetic variants do not associate with CAD in familial hypercholesterolemia

artículo científico publicado en 2013

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Common variants near TERC are associated with mean telomere length

artículo científico publicado en 2010

Comparative analysis of neutrophil and monocyte epigenomes

Comparing association network algorithms for reverse engineering of large-scale gene regulatory networks: synthetic versus real data

artículo científico publicado en 2007

Consequences Of Natural Perturbations In The Human Plasma Proteome

article

Copy number variation of the APC gene is associated with regulation of bone mineral density

artículo científico publicado en 2012

Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

artículo científico publicado en 2019

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

artículo científico publicado en 2009

Correction: Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study

artículo científico publicado en 2009

Correction: Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Corrigendum: Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming

artículo científico publicado en 2017

Decompositions of large-scale biological systems based on dynamical properties.

artículo científico publicado en 2011

Determining the distance to monotonicity of a biological network: a graph-theoretical approach

artículo científico publicado en 2010

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discerning static and causal interactions in genome-wide reverse engineering problems.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Disentangling the genetics of lean mass

article

ERNEST: a toolbox for chemical reaction network theory

scientific article published in 2009

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms

artículo científico publicado en 2011

Elucidating the chromatin architecture of loci associated with blood traits and coronary artery disease

scholarly article by D.S. Paul et al published April 2010 in New Biotechnology

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

artículo científico

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2015

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scholarly article published in Nature Genetics

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Erratum: Whole-genome sequence-based analysis of thyroid function

artículo científico publicado en 2015

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

artículo científico publicado en 2022

Following the dogma: molecular evolutionists move from genes to messages and proteins

article

From knockouts to networks: establishing direct cause-effect relationships through graph analysis.

artículo científico publicado en 2010

Functional interpretation of non-coding sequence variation: concepts and challenges

artículo científico publicado en 2013

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

artículo científico publicado en 2017

GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction

article

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

artículo científico publicado en 2019

Gene-pool variation in caledonian and European Scots pine (Pinus sylvestris L.) revealed by chloroplast simple-sequence repeats

article

Genes contributing to pain sensitivity in the normal population: an exome sequencing study.

artículo científico publicado en 2012

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

artículo científico publicado en 2016

Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms

artículo científico publicado en 2016

Genetic architecture: the shape of the genetic contribution to human traits and disease

artículo científico publicado en 2017

Genetic association studies: web-based resources for effective screening and assessment of candidate genes and pathways.

artículo científico publicado en 2004

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

artículo científico publicado en 2014

Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

artículo científico publicado en 2010

Genetic determinants of variability in glycated hemoglobin (HbA(1c)) in humans: review of recent progress and prospects for use in diabetes care

artículo científico publicado en 2011

Genetic evidence of assortative mating in humans

article

Genetic loci influencing kidney function and chronic kidney disease

artículo científico publicado en 2010

Genetic predictors of fibrin D-dimer levels in healthy adults

artículo científico publicado en 2011

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

artículo científico publicado en 2005

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

artículo científico publicado en 2018

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

artículo científico publicado en 2015

Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans

artículo científico publicado en 2013

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide Analysis of Differential Transcriptional and Epigenetic Variability Across Human Immune Cell Types

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

artículo científico publicado en 2018

Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits

scientific journal article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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 five loci associated with lung function

artículo científico publicado en 2010

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.

artículo científico publicado en 2010

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

artículo científico publicado en 2009

Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension

artículo científico publicado en 2010

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 common variant differences between men and women

artículo científico publicado en 2012

Genomic atlas of the human plasma proteome

artículo científico publicado en 2018

Height-reducing variants and selection for short stature in Sardinia

artículo científico publicado en 2015

Heritable contributions versus genetic architecture

artículo científico publicado en 2018

Human metabolic individuality in biomedical and pharmaceutical research

artículo científico publicado en 2011

Human serum metabolic profiles are age dependent

artículo científico publicado en 2012

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

artículo científico publicado en 2010

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

artículo científico publicado en 2010

Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study

artículo científico publicado en 2008

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

artículo científico publicado en 2011

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

artículo científico publicado en 2014

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

artículo científico publicado en 2017

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

artículo científico publicado en 2018

Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene

artículo científico publicado en 2004

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.

artículo científico publicado en 2017

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

artículo científico publicado en 2015

Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

artículo científico publicado en 2016

Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo

artículo científico publicado en 2005

Integrating common and rare genetic variation in diverse human populations

artículo científico publicado en 2010

Interpreting Association Signals

Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

artículo científico publicado en 2013

JAK2V617F leads to intrinsic changes in platelet formation and reactivity in a knock-in mouse model of essential thrombocythemia

artículo científico publicado en 2013

Lack of association of the pregnane X receptor (PXR/NR1I2) gene with inflammatory bowel disease: parallel allelic association study and gene wide haplotype analysis.

artículo científico publicado en 2006

Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy.

artículo científico publicado en 2007

Large genome-wide association study identifies three novel risk variants for restless legs syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Large scale association analysis of novel genetic loci for coronary artery disease

artículo científico publicado en 2009

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

artículo científico publicado en 2011

Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming

artículo científico publicado en 2016

List of Contributors

Loci at chromosomes 13, 19 and 20 influence age at natural menopause

artículo científico publicado en 2009

Loci influencing blood pressure identified using a cardiovascular gene-centric array

artículo científico publicado en 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

artículo científico publicado en 2013

Long term conservation of human metabolic phenotypes and link to heritability

artículo científico publicado en 2014

Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease

artículo científico publicado en 2022

Male-pattern baldness susceptibility locus at 20p11.

artículo científico publicado en 2008

Mapping cis- and trans-regulatory effects across multiple tissues in twins

artículo científico publicado en 2012

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

artículo científico publicado en 2011

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

artículo científico publicado en 2013

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

artículo científico publicado en 2010

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

artículo científico publicado en 2009

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Metabolomic identification of a novel pathway of blood pressure regulation involving hexadecanedioate

artículo científico publicado en 2015

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

artículo científico publicado en 2015

MultiMeta: an R package for meta-analysing multi-phenotype genome-wide association studies

Multicohort analysis of the maternal age effect on recombination

artículo científico publicado en 2015

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

Multiple loci are associated with white blood cell phenotypes

artículo científico publicado en 2011

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

artículo científico publicado en 2009

Network-based metabolite ratios for an improved functional characterization of genome-wide association study results

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

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

artículo científico publicado en 2010

No Evidence of Persistence or Inheritance of Mitochondrial DNA Copy Number in Holocaust Survivors and Their Descendants

artículo científico publicado en 2020

Nonadditive Effects of Genes in Human Metabolomics

artículo científico publicado en 2015

Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium

artículo científico publicado en 2010

Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses

artículo científico publicado en 2014

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

Organisation and structural evolution of the rice glutathione S-transferase gene family

artículo científico publicado en 2004

Origin of co-expression patterns in E. coli and S. cerevisiae emerging from reverse engineering algorithms

artículo científico publicado en 2008

Orione, a web-based framework for NGS analysis in microbiology

artículo científico publicado en 2014

Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells

scientific article published on 09 November 2020

Personalized and graph genomes reveal missing signal in epigenomic data

scientific article published on 25 May 2020

Platelet Genomics

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

artículo científico publicado en 2017

Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans

artículo científico publicado en 2004

Positive Selection on a Human-Specific Transcription Factor Binding Site Regulating IL4 Expression

artículo científico publicado en 2003

Positive selection on MMP3 regulation has shaped heart disease risk

artículo científico publicado en 2004

Positive selection on a high-sensitivity allele of the human bitter-taste receptor TAS2R16.

artículo científico publicado en 2005

Promoter polymorphisms and allelic imbalance in ABCB1 expression

artículo científico publicado en 2007

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

article

Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control

artículo científico publicado en 2009

Reactome - a curated knowledgebase of biological pathways: megakaryocytes and platelets

artículo científico publicado en 2012

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.

artículo científico publicado en 2018

Resolving variant-to-function relationships in hematopoiesis

artículo científico publicado en 2019

Response to Comment on: Soranzo et al. Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways. Diabetes 2010;59:3229–3239.

artículo científico publicado en 2011

SMIM1 underlies the Vel blood group and influences red blood cell traits

artículo científico publicado en 2013

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

artículo científico publicado en 2010

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Significant impact of miRNA-target gene networks on genetics of human complex traits

artículo científico publicado en 2016

Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake

artículo científico publicado en 2011

Simulating systems genetics data with SysGenSIM

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Small effective population size and genetic homogeneity in the Val Borbera isolate.

artículo científico publicado en 2012

Strategies and Resources for Marker Selection and Genotyping in Genetic Association Studies

Synthetic associations are unlikely to account for many common disease genome-wide association signals

artículo científico publicado en 2011

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

artículo científico publicado en 2016

The Polygenic and Monogenic Basis of Blood Traits and Diseases

artículo científico publicado en 2020

The UK10K project identifies rare variants in health and disease

artículo científico publicado en 2015

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

artículo científico publicado en 2011

The end of the start for population sequencing

scientific article published in Nature

The impact of rare and low-frequency genetic variants in common disease

artículo científico publicado en 2017

The influence of rare variants in circulating metabolic biomarkers

artículo científico publicado en 2020

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

artículo científico publicado en 2012

The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue

artículo científico publicado en 2013

The role of common variation in drug transporter genes in refractory epilepsy

artículo científico publicado en 2005

The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

artículo científico publicado en 2020

Transcriptional diversity during lineage commitment of human blood progenitors

artículo científico publicado en 2014

Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits

artículo científico publicado en 2022

Transcriptomic profiles of aging in purified human immune cells

artículo científico publicado en 2015

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

artículo científico publicado en 2009

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

scientific article published on 01 October 2019

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

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

article

Whole-genome sequence-based analysis of thyroid function.

artículo científico publicado en 2015

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

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

artículo científico publicado en 2015

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

artículo científico publicado en 2021

mRNA stability and the unfolding of gene expression in the long-period yeast metabolic cycle

artículo científico publicado en 2009

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