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

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

(2016) Linda M. Polfus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

The role of TRIB1 in lipid metabolism; from genetics to pathways

(2015) S. Iwamoto et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation

(2015) T. Moroy et al.   BLOOD

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

The impact of low-frequency and rare variants on lipid levels

(2015) Ida Surakka et al.   NATURE GENETICS

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

(2015) Fabrice Danjou et al.   NATURE GENETICS

Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo

(2015) Matthew T Maurano et al.   NATURE GENETICS

A method to predict the impact of regulatory variants from DNA sequence

(2015) Dongwon Lee et al.   NATURE GENETICS

dbSUPER: a database of super-enhancers in mouse and human genome

(2015) Aziz Khan et al.   NUCLEIC ACIDS RESEARCH

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

A genome-wide association study of marginal zone lymphoma shows association to the HLA region

(2015) Joseph Vijai et al.   Nature Communications

Whole-genome sequence-based analysis of thyroid function

(2015) Peter N. Taylor et al.   Nature Communications

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

(2015) Jie Huang et al.   Nature Communications

Sphingosine 1-Phosphate Receptor 2 and 3 Mediate Bone Marrow-Derived Monocyte/Macrophage Motility in Cholestatic Liver Injury in Mice

(2015) Le Yang et al.   Scientific Reports

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

Trans-ethnic meta-analysis of white blood cell phenotypes

(2014) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis

(2014) Madhav C. Menon et al.   JOURNAL OF CLINICAL INVESTIGATION

Sphingosine-1-phosphate/S1P Receptors Signaling Modulates Cell Migration in Human Bone Marrow-Derived Mesenchymal Stem Cells

(2014) Yaxian Kong et al.   MEDIATORS OF INFLAMMATION

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

(2014) Krzysztof Kiryluk et al.   NATURE GENETICS

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

(2014) Paul L Auer et al.   NATURE GENETICS

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

(2014) Nicholas J. Timpson et al.   Nature Communications

Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci

(2014) Susan K. Service et al.   PLoS Genetics

Functional Analysis of the TRIB 1 Associated Locus Linked to Plasma Triglycerides and Coronary Artery Disease

(2014) Adrianna Douvris et al.   Journal of the American Heart Association

A comprehensive SNP and indel imputability database

(2013) Q. Duan et al.   BIOINFORMATICS

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

(2013) M. J. Dasouki et al.   BLOOD

Super-Enhancers in the Control of Cell Identity and Disease

(2013) Denes Hnisz et al.   CELL

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

(2013) D. A. Baerenwald et al.   DIABETOLOGIA

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

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

(2013) Ron Do et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

The Pathogenesis of the Antiphospholipid Syndrome

(2013) Bill Giannakopoulos et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

PKCα negatively regulatesin vitroproplatelet formation andin vivoplatelet production in mice

(2013) Christopher M. Williams et al.   PLATELETS

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Induction of functional platelets from mouse and human fibroblasts by p45NF-E2/Maf

(2012) Y. Ono et al.   BLOOD

Combinatorial Assembly of Developmental Stage-Specific Enhancers Controls Gene Expression Programs during Human Erythropoiesis

(2012) Jian Xu et al.   DEVELOPMENTAL CELL

Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number

(2012) V. G. Sankaran et al.   GENES & DEVELOPMENT

Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children

(2012) Andy Boyd et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Recent developments in our understanding of the antiphospholipid syndrome

(2012) P. G. De GROOT et al.   International Journal of Laboratory Hematology

Effects of age on genetic influence on bone loss over 17 years in women: The Healthy Ageing Twin Study (HATS)

(2012) Alireza Moayyeri et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1–CoREST complex through the dimethylation of its SNAG domain

(2012) Benoît Laurent et al.   JOURNAL OF CELL SCIENCE

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

BLUEPRINT to decode the epigenetic signature written in blood

(2012) David Adams et al.   NATURE BIOTECHNOLOGY

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

(2012) Yukinori Okada et al.   NATURE GENETICS

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

(2012) Anna Köttgen et al.   NATURE GENETICS

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

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

(2012)   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

New gene functions in megakaryopoiesis and platelet formation

(2011) Christian Gieger et al.   NATURE

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

GWAMA: software for genome-wide association meta-analysis

(2010) Reedik Mägi et al.   BMC BIOINFORMATICS

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

(2010) Tanya M. Teslovich et al.   NATURE

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Identification of a Common Gene Expression Signature Associated with Immature Clonal Mesenchymal Cell Populations Derived from Bone Marrow and Dental Tissues

(2010) Danijela Menicanin et al.   STEM CELLS AND DEVELOPMENT

Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels

(2010) Tamra E. Meyer et al.   PLoS Genetics

Bayes factors for genome-wide association studies: comparison withP-values

(2008) Jon Wakefield   GENETIC EPIDEMIOLOGY

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

(2008) K. Liu et al.   HAEMATOLOGICA

SLC2A9 Is a High-Capacity Urate Transporter in Humans

(2008) Mark J Caulfield et al.   PLOS MEDICINE