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

Transcript expression-aware annotation improves rare variant interpretation

(2020) Beryl B. Cummings et al.   NATURE

A common polymorphism in the mechanosensitive ion channel PIEZO1 is associated with protection from severe malaria in humans

(2020) Christian N. Nguetse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants

(2020) Russell T. Walton et al.   SCIENCE

Glucose-6-Phosphate Dehydrogenase Deficiency

(2020) Lucio Luzzatto et al.   BLOOD

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

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

(2020) Amal H. Aljohani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies

(2019) Han Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A simple and accurate method to determine genomewide significance for association tests in sequencing studies

(2019) Dan-Yu Lin   GENETIC EPIDEMIOLOGY

A fully adjusted two-stage procedure for rank-normalization in genetic association studies

(2019) Tamar Sofer et al.   GENETIC EPIDEMIOLOGY

Highly efficient therapeutic gene editing of human hematopoietic stem cells

(2019) Yuxuan Wu et al.   NATURE MEDICINE

Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits

(2019) Segun Fatumo et al.   Frontiers in Genetics

Genetic association testing using the GENESIS R/Bioconductor package

(2019) Stephanie M Gogarten et al.   BIOINFORMATICS

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Mild erythrocytosis as a presenting manifestation of PIEZO1 associated erythrocyte volume disorders

(2019) Tristan Knight et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders

(2019) Giuseppe Lippi et al.   ACTA HAEMATOLOGICA

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program

(2019) Chloé Sarnowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2019) Deepti Gurdasani et al.   CELL

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

(2019) Madeline H. Kowalski et al.   PLoS Genetics

Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection

(2018) Shang Ma et al.   CELL

Structure and mechanogating mechanism of the Piezo1 channel

(2018) Qiancheng Zhao et al.   NATURE

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression

(2018) Mina Ali et al.   Nature Communications

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

(2018) Laura M. Raffield et al.   PLoS Genetics

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transferrin receptor 1 controls systemic iron homeostasis by fine-tuning hepcidin expression to hepatocellular iron load

(2018) Carine Fillebeen et al.   BLOOD

Clinico-Hematological Profile of Hb Q India: An Uncommon Hemoglobin Variant

(2017) Aradhana Harrison et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia

(2017) Kazumichi Furuyama et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant

(2017) Edson Ramírez-Nava et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A protein interaction mechanism for suppressing the mechanosensitive Piezo channels

(2017) Tingxin Zhang et al.   Nature Communications

Clinico-Hematological Profile of Hb Q India: An Uncommon Hemoglobin Variant

(2017) Aradhana Harrison et al.   Indian Journal of Hematology and Blood Transfusion

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

Rare coding variants pinpoint genes that control human hematological traits

(2017) Abdou Mousas et al.   PLoS Genetics

Model-free Estimation of Recent Genetic Relatedness

(2016) Matthew P. Conomos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

(2016) Nathalie Chami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos

(2016) Matthew P. Conomos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CHiCP: a web-based tool for the integrative and interactive visualization of promoter capture Hi-C datasets

(2016) E. C. Schofield et al.   BIOINFORMATICS

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

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

(2016) William J. Astle et al.   CELL

Testing the role of predicted gene knockouts in human anthropometric trait variation

(2016) Samuel Lessard et al.   HUMAN MOLECULAR GENETICS

Laboratory parameters provided by Advia 2120 analyser identify structural haemoglobinopathy carriers and discriminate between Hb S trait and Hb C trait

(2016) Diego Velasco-Rodríguez et al.   JOURNAL OF CLINICAL PATHOLOGY

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

(2016) Nathan Pankratz et al.   NATURE GENETICS

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

(2016) Valentina Iotchkova et al.   NATURE GENETICS

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Robust Inference of Population Structure for Ancestry Prediction and Correction of Stratification in the Presence of Relatedness

(2015) Matthew P. Conomos et al.   GENETIC EPIDEMIOLOGY

Glutathionylation of the Active Site Cysteines of Peroxiredoxin 2 and Recycling by Glutaredoxin

(2015) Alexander V. Peskin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

(2015) Bhairavi Swaminathan et al.   Nature Communications

Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes

(2014) Wuelton M Monteiro et al.   MALARIA JOURNAL

Easy quantitative assessment of genome editing by sequence trace decomposition

(2014) Eva K. Brinkman et al.   NUCLEIC ACIDS RESEARCH

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

(2014) Beben Benyamin et al.   Nature Communications

The role of TMPRSS6/matriptase-2 in iron regulation and anemia

(2014) Chia-Yu Wang et al.   Frontiers in Pharmacology

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

(2013) M. A. Spinner et al.   BLOOD

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

Iron refractory iron deficiency anemia

(2013) L. De Falco et al.   HAEMATOLOGICA

Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser;HBA1: c.358C>T] Variant

(2013) Philippe Joly et al.   HEMOGLOBIN

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

(2013) Zhao Chen et al.   HUMAN MOLECULAR GENETICS

Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells

(2013) Ryo Kurita et al.   PLoS One

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

(2012) Ikbel Benmansour et al.   BLOOD CELLS MOLECULES AND DISEASES

Pontin is essential for murine hematopoietic stem cell survival

(2012) O. Bereshchenko et al.   HAEMATOLOGICA

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proof of principle for transfusion of in vitro-generated red blood cells

(2011) M.-C. Giarratana et al.   BLOOD

K-Cl Cotransporter Gene Expression during Human and Murine Erythroid Differentiation

(2011) Dao Pan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

Plasmodium falciparum malaria and the immunogenetics of ABO, HLA, and CD36 (platelet glycoprotein IV)

(2010) C. M. Cserti-Gazdewich et al.   VOX SANGUINIS

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

(2009) L. Silvestri et al.   BLOOD

Analysis of human   globin gene mutations that impair binding to the   hemoglobin stabilizing protein

(2009) X. Yu et al.   BLOOD

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh 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

Variability and heritability of hemoglobin concentration: an opportunity to improve understanding of anemia in older adults

(2008) K. V. Patel   HAEMATOLOGICA

Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PDPlymouth and G6PDMahidol: Evidence for defective protein folding as the basis of disease

(2007) Yuxiang Huang et al.   MOLECULAR GENETICS AND METABOLISM