Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

Association of Sickle Cell Trait With Hemoglobin A1c in African Americans

(2017) Mary E. Lacy et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Sickle Cell Trait and the Risk of ESRD in Blacks

(2017) Rakhi P. Naik et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Sickle Cell Disease

(2017) Frédéric B. Piel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

(2017) Sachith Mettananda et al.   Nature Communications

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos

(2017) Chani J. Hodonsky et al.   PLoS Genetics

gkmSVM: an R package for gapped-kmer SVM

(2016) Mahmoud Ghandi et al.   BIOINFORMATICS

A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia

(2016) Man-Yu Wu et al.   BRITISH JOURNAL OF HAEMATOLOGY

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

(2016) Jacob C. Ulirsch et al.   CELL

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

Genetic dissection of the α-globin super-enhancer in vivo

(2016) Deborah Hay et al.   NATURE GENETICS

Identification of context-dependent expression quantitative trait loci in whole blood

(2016) Daria V Zhernakova et al.   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Insight into GATA1 transcriptional activity through interrogation ofciselements disrupted in human erythroid disorders

(2016) Aoi Wakabayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

(2016) Michael H. Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effects of Serum Creatinine Calibration on Estimated Renal Function in African Americans: The Jackson Heart Study

(2015) Wei Wang et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

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

(2015) Matthew T Maurano et al.   NATURE GENETICS

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Multiplexed analysis of chromosome conformation at vastly improved sensitivity

(2015) James O J Davies et al.   NATURE METHODS

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

HOCOMOCO: expansion and enhancement of the collection of transcription factor binding sites models

(2015) Ivan V. Kulakovskiy et al.   NUCLEIC ACIDS RESEARCH

Global transcriptome analyses of human and murine terminal erythroid differentiation

(2014) X. An et al.   BLOOD

Association of Sickle Cell Trait With Chronic Kidney Disease and Albuminuria in African Americans

(2014) Rakhi P. Naik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Analysis of chromatin-state plasticity identifies cell-type-specific regulators of H3K27me3 patterns

(2014) L. Pinello et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A New Equation to Estimate Glomerular Filtration Rate

(2013) Andrew S. Levey et al.   ANNALS OF INTERNAL MEDICINE

Glucose-Independent, Black–White Differences in Hemoglobin A1cLevels

(2013) David C. Ziemer   ANNALS OF INTERNAL MEDICINE

Evaluation and Management of Chronic Kidney Disease: Synopsis of the Kidney Disease: Improving Global Outcomes 2012 Clinical Practice Guideline

(2013) Paul E. Stevens   ANNALS OF INTERNAL MEDICINE

BLUEPRINT: mapping human blood cell epigenomes

(2013) J. H. A. Martens et al.   HAEMATOLOGICA

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

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

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

(2013) D. E. Bauer et al.   SCIENCE

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

Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis

(2012) Steve M Taylor et al.   LANCET INFECTIOUS DISEASES

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

Heterogeneity of Hemoglobin H Disease in Childhood

(2011) Ashutosh Lal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease

(2010) M. C. Sollaino et al.   BLOOD

α-thalassaemia

(2010) Cornelis L Harteveld et al.   Orphanet Journal of Rare Diseases

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster

(2009) N. Solovieff et al.   BLOOD

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

Long-range regulation of ?? globin gene expression during erythropoiesis

(2008) Douglas R Higgs et al.   CURRENT OPINION IN HEMATOLOGY