Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes

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

(2013) C. M. Hobbs et al.   BLOOD

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

(2013) D. S. Paul et al.   GENOME RESEARCH

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

(2013) Khader Shameer et al.   HUMAN GENETICS

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

(2013) Zhao Chen et al.   HUMAN MOLECULAR GENETICS

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

(2013) Keri L Monda et al.   NATURE GENETICS

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

(2013) Ron Do et al.   NATURE GENETICS

GWAS to Therapy by Genome Edits?

(2013) R. C. Hardison et al.   SCIENCE

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

(2013) D. E. Bauer et al.   SCIENCE

The Search for Genetic Modifiers of Disease Severity in the  -Hemoglobinopathies

(2013) G. Lettre   Cold Spring Harbor Perspectives in Medicine

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

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

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

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

(2012) Jin Li et al.   HUMAN MOLECULAR GENETICS

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

(2012) Benjamin F Voight et al.   LANCET

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

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

A Meta-Analysis and Genome-Wide Association Study of Platelet Count and Mean Platelet Volume in African Americans

(2012) Rehan Qayyum et al.   PLoS Genetics

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

(2011) David R. Crosslin et al.   HUMAN GENETICS

Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus

(2011) Yukinori Okada et al.   HUMAN MOLECULAR GENETICS

Ischaemic stroke: a thrombo-inflammatory disease?

(2011) Bernhard Nieswandt et al.   JOURNAL OF PHYSIOLOGY-LONDON

A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

New gene functions in megakaryopoiesis and platelet formation

(2011) Christian Gieger et al.   NATURE

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

Multiple Loci Are Associated with White Blood Cell Phenotypes

(2011) Michael A. Nalls et al.   PLoS Genetics

Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry

(2011) Amidou N'Diaye et al.   PLoS Genetics

Identification of Nine Novel Loci Associated with White Blood Cell Subtypes in a Japanese Population

(2011) Yukinori Okada et al.   PLoS Genetics

Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT)

(2011) Alexander P. Reiner et al.   PLoS Genetics

Modifier genes in Mendelian disorders: the example of hemoglobin disorders

(2010) Vijay G. Sankaran et al.   Annals of the New York Academy of Sciences

Advances in the understanding of haemoglobin switching

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

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans

(2010) Ken Sin Lo et al.   HUMAN GENETICS

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

(2010) Geneviève Galarneau et al.   NATURE GENETICS

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

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

JAK2V617F and beyond: role of genetics and aberrant signaling in the pathogenesis of myeloproliferative neoplasms

(2010) Stephen T Oh et al.   Expert Review of Hematology

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

(2009) N. Soranzo et al.   BLOOD

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

(2009) Manit Nuinoon et al.   HUMAN GENETICS

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

(2009) John C Chambers et al.   NATURE GENETICS

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

(2009) Daniel F Gudbjartsson et al.   NATURE GENETICS

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

(2009) Nicole Soranzo et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

(2009) David Reich et al.   PLoS Genetics

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume

(2008) Christa Meisinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hematopoiesis: An Evolving Paradigm for Stem Cell Biology

(2008) Stuart H. Orkin et al.   CELL

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

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE