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

Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors

(2015) Samuel Lessard et al.   Genome Medicine

Reprogramming Committed Murine Blood Cells to Induced Hematopoietic Stem Cells with Defined Factors

(2014) Jonah Riddell et al.   CELL

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

(2014) Giorgio Pistis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genetic score for the prediction of beta-thalassemia severity

(2014) F. Danjou et al.   HAEMATOLOGICA

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

(2014) Ralph Stadhouders et al.   JOURNAL OF CLINICAL INVESTIGATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Reappraisal of known malaria resistance loci in a large multicenter study

(2014) Kirk A Rockett et al.   NATURE GENETICS

Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

(2014) B. P. Fairfax et al.   SCIENCE

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

(2013) Elin Grundberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nfix is a novel regulator of murine hematopoietic stem and progenitor cell survival

(2013) P. Holmfeldt et al.   BLOOD

Complexity of the alpha-globin genotypes identified with thalassemia screening in Sardinia

(2013) Raffaella Origa et al.   BLOOD CELLS MOLECULES AND DISEASES

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

(2013) A. Battle et al.   GENOME RESEARCH

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

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

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

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

zCall: a rare variant caller for array-based genotyping

(2012) Jacqueline I. Goldstein et al.   BIOINFORMATICS

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans

(2012) H. T. Bae et al.   BLOOD

HbA2levels in normal adults are influenced by two distinct genetic mechanisms

(2012) Stephan Menzel et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

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

Genetic modifiers of  -thalassemia and clinical severity as assessed by age at first transfusion

(2012) F. Danjou et al.   HAEMATOLOGICA

Cohort Profile: TwinsUK and Healthy Ageing Twin Study

(2012) A. Moayyeri et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

DNase I sensitivity QTLs are a major determinant of human expression variation

(2012) Jacob F. Degner et al.   NATURE

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

(2012) Bryan Howie et al.   NATURE GENETICS

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

(2012) Johannes Kettunen et al.   NATURE GENETICS

ENCODE Data in the UCSC Genome Browser: year 5 update

(2012) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Computational tools for discovery and interpretation of expression quantitative trait loci

(2012) Fred A Wright et al.   PHARMACOGENOMICS

A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation

(2012) Silvia Naitza et al.   PLoS Genetics

Dissecting the regulatory architecture of gene expression QTLs

(2012) Daniel J Gaffney et al.   GENOME BIOLOGY

The multifunctional role of EKLF/KLF1 during erythropoiesis

(2011) M. Siatecka et al.   BLOOD

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

KLF1 gene mutations cause borderline HbA2

(2011) L. Perseu et al.   BLOOD

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

(2011) S. Satta et al.   HAEMATOLOGICA

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients

(2011) Pallav Bhatnagar et al.   JOURNAL OF HUMAN GENETICS

Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis

(2011) S. Porcu et al.   MOLECULAR AND CELLULAR BIOLOGY

Androglobin: A Chimeric Globin in Metazoans That Is Preferentially Expressed in Mammalian Testes

(2011) D. Hoogewijs et al.   MOLECULAR BIOLOGY AND EVOLUTION

Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

(2011) Stephen B. Montgomery et al.   PLoS Genetics

Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue

(2011) Federico Innocenti et al.   PLoS Genetics

Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project

(2011) Guillaume Lettre et al.   PLoS Genetics

Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA

(2011) Rudolf S. N. Fehrmann et al.   PLoS Genetics

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Advances in the understanding of haemoglobin switching

(2010) Vijay G. Sankaran et al.   BRITISH JOURNAL OF HAEMATOLOGY

Update on fetal hemoglobin gene regulation in hemoglobinopathies

(2010) Daniel E Bauer et al.   CURRENT OPINION IN PEDIATRICS

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility

(2010) Tanja Zeller et al.   PLoS One

Genetic and nongenetic sources of variation in phospholipid transfer protein activity

(2009) Gail P. Jarvik et al.   JOURNAL OF LIPID RESEARCH

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

(2009) Nicole Soranzo et al.   NATURE GENETICS

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

(2009) Soumya Raychaudhuri et al.   PLoS Genetics

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Human phosphorylated CTD-interacting protein, PCIF1, negatively modulates gene expression by RNA polymerase II

(2008) Yutaka Hirose et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

(2008) Jean-Baptiste Veyrieras et al.   PLoS Genetics