Published in Blood on September 10, 2013
Global transcriptome analyses of human and murine terminal erythroid differentiation. Blood (2014) 2.24
Global transcriptome analysis and enhancer landscape of human primary T follicular helper and T effector lymphocytes. Blood (2014) 0.95
Erythro-megakaryocytic transcription factors associated with hereditary anemia. Blood (2014) 0.95
Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation. PLoS Genet (2014) 0.90
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A (2016) 0.84
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest (2015) 0.82
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views. BMC Med Genomics (2016) 0.81
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet (2016) 0.80
Human and murine erythropoiesis. Curr Opin Hematol (2015) 0.78
Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production. Pediatr Res (2015) 0.75
From helix to hematology: introduction to a collection of reviews on the emerging role of next-generation sequencing in hematology. Blood (2013) 0.75
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud (2016) 0.75
Diagnostic approaches for inherited hemolytic anemia in the genetic era. Blood Res (2017) 0.75
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
Sickle cell anemia a molecular disease. Science (1949) 21.90
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet (2007) 13.78
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell (2012) 12.32
Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet (2008) 11.80
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med (2011) 9.03
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature (1956) 6.51
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med (2003) 6.47
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet (2008) 4.02
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science (2013) 3.86
Structure of haemoglobin: a three-dimensional Fourier synthesis at 5.5-A. resolution, obtained by X-ray analysis. Nature (1960) 3.80
Piezo proteins are pore-forming subunits of mechanically activated channels. Nature (2012) 3.54
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet (2011) 3.41
Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature (2013) 3.40
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet (2012) 3.30
Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet (2013) 3.30
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
Points to consider in the clinical application of genomic sequencing. Genet Med (2012) 3.03
Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A (2011) 2.93
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res (2012) 2.76
Point-counterpoint. Ethics and genomic incidental findings. Science (2013) 2.73
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet (2010) 2.63
The expanding scope of DNA sequencing. Nat Biotechnol (2012) 2.57
Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol (2013) 2.51
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol (2011) 2.32
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest (2012) 2.15
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet (2013) 2.10
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03
Next-generation sequencing in the clinic: are we ready? Nat Rev Genet (2012) 1.95
Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med (2013) 1.89
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood (2012) 1.84
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest (2012) 1.79
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood (2012) 1.76
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet (2013) 1.71
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet (2012) 1.70
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun (2013) 1.60
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet (2002) 1.56
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood (2013) 1.55
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet (2013) 1.52
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med (2011) 1.52
Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood (2013) 1.44
Genomics in clinical practice: lessons from the front lines. Sci Transl Med (2013) 1.38
Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol (2010) 1.34
Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet (2009) 1.28
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. J Hum Genet (2011) 1.24
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet (2012) 1.13
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet (2012) 1.05
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. PLoS One (2012) 1.04
A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genet Epidemiol (2012) 1.04
Thalassemia: an overview of 50 years of clinical research. Hematol Oncol Clin North Am (2010) 1.03
Disorders of red cell volume regulation. Curr Opin Hematol (2013) 1.02
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat (2012) 1.01
What's in a name? J Clin Invest (2012) 0.98
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet (2012) 0.94
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet (1998) 0.94
Genetic influences on peripheral blood cell counts: a study in baboons. Blood (2005) 0.94
The value of DNA analysis for antigens of the Kell and Kx blood group systems. Transfusion (2007) 0.94
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica (2011) 0.93
A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med (2013) 0.92
Rare variants in ischemic stroke: an exome pilot study. PLoS One (2012) 0.92
Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. PLoS One (2012) 0.92
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br J Haematol (2013) 0.91
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov Disord (2011) 0.90
Quantitative trait loci for baseline erythroid traits. Mamm Genome (2006) 0.88
Analysis of disease-causing GATA1 mutations in murine gene complementation systems. Blood (2013) 0.87
Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1. Am J Hematol (2011) 0.85
Targeted genome-wide enrichment of functional regions. PLoS One (2010) 0.81
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics (2013) 0.80
Quantitative trait loci analysis for peripheral blood parameters in a (BALB/cW × C57BL/6J-Mpl (hlb219)/J) F(2) mice. Exp Anim (2011) 0.78
Red cell membrane: past, present, and future. Blood (2008) 3.11
Hereditary spherocytosis. Lancet (2008) 2.37
Seventy-five years of neonatal sepsis at Yale: 1928-2003. Pediatrics (2005) 2.22
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site. Blood (2008) 2.12
Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell (2009) 1.93
Changing patterns in neonatal Escherichia coli sepsis and ampicillin resistance in the era of intrapartum antibiotic prophylaxis. Pediatrics (2008) 1.91
Single-lineage transcriptome analysis reveals key regulatory pathways in primitive erythroid progenitors in the mouse embryo. Blood (2011) 1.79
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood (2012) 1.76
Novel role for EKLF in megakaryocyte lineage commitment. Blood (2007) 1.53
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation. Blood (2011) 1.50
Altered subcellular localization of transcription factor TEAD4 regulates first mammalian cell lineage commitment. Proc Natl Acad Sci U S A (2012) 1.44
The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. Blood (2013) 1.43
Failure of terminal erythroid differentiation in EKLF-deficient mice is associated with cell cycle perturbation and reduced expression of E2F2. Mol Cell Biol (2008) 1.42
Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid Kruppel-like factor-deficient mice. Mol Cell Biol (2006) 1.26
Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol (2006) 1.23
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. Blood (2006) 1.22
Chromatin boundaries require functional collaboration between the hSET1 and NURF complexes. Blood (2011) 1.17
Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes. Blood (2009) 1.12
Chromatin architecture and transcription factor binding regulate expression of erythrocyte membrane protein genes. Mol Cell Biol (2009) 1.06
Antibiotic-resistant organisms in the neonatal intensive care unit. Semin Perinatol (2007) 1.05
Identification of biologically relevant enhancers in human erythroid cells. J Biol Chem (2013) 1.03
USF1 and hSET1A mediated epigenetic modifications regulate lineage differentiation and HoxB4 transcription. PLoS Genet (2013) 1.03
An 11-amino acid beta-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes. Proc Natl Acad Sci U S A (2007) 1.02
Multiple isoforms of the KC1 cotransporter are expressed in sickle and normal erythroid cells. Exp Hematol (2005) 0.99
A decline in the frequency of neonatal exchange transfusions and its effect on exchange-related morbidity and mortality. Pediatrics (2007) 0.99
Erythrocyte peripheral type benzodiazepine receptor/voltage-dependent anion channels are upregulated by Plasmodium falciparum. Blood (2011) 0.95
A comprehensive model of the spectrin divalent tetramer binding region deduced using homology modeling and chemical cross-linking of a mini-spectrin. J Biol Chem (2010) 0.95
Teleost growth factor independence (gfi) genes differentially regulate successive waves of hematopoiesis. Dev Biol (2012) 0.94
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood (2005) 0.91
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov Disord (2011) 0.90
Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin gene. J Biol Chem (2004) 0.89
Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function. Am J Hematol (2008) 0.88
Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteins. J Biol Chem (2002) 0.88
A fused alpha-beta "mini-spectrin" mimics the intact erythrocyte spectrin head-to-head tetramer. J Biol Chem (2010) 0.88
Matched case-control analysis of polymicrobial bloodstream infection in a neonatal intensive care unit. Infect Control Hosp Epidemiol (2008) 0.88
The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes. Am J Physiol Cell Physiol (2009) 0.87
Conjunctival colonization of infants hospitalized in a neonatal intensive care unit: a longitudinal analysis. Infect Control Hosp Epidemiol (2004) 0.87
Methicillin-resistant Staphylococcus aureus in the neonatal intensive care unit. Semin Perinatol (2012) 0.87
Clinical and laboratory factors that predict death in very low birth weight infants presenting with late-onset sepsis. Pediatr Infect Dis J (2014) 0.86
Granulicatella adiacens and early-onset sepsis in neonate. Emerg Infect Dis (2011) 0.86
Erythrocyte disorders in the perinatal period. Semin Perinatol (2007) 0.86
Probing large conformational rearrangements in wild-type and mutant spectrin using structural mass spectrometry. Proc Natl Acad Sci U S A (2014) 0.84
Determinants of erythrocyte hydration. Curr Opin Hematol (2010) 0.83
Patterns of histone H3 lysine 27 monomethylation and erythroid cell type-specific gene expression. J Biol Chem (2011) 0.82
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. Am J Physiol Cell Physiol (2011) 0.81
Aplastic crisis revealing the diagnosis of Hb Evans [alpha62(E11)Val-->Met, GTG-->ATG (alpha2)] in a Hispanic kindred: case report and review. Hemoglobin (2007) 0.81
Case-control analysis of endemic Serratia marcescens bacteremia in a neonatal intensive care unit. Arch Dis Child Fetal Neonatal Ed (2006) 0.80
A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter. Blood (2012) 0.80
A de novo band 3 mutation in hereditary spherocytosis. Pediatr Blood Cancer (2011) 0.79
Genome-wide detection of a TFIID localization element from an initial human disease mutation. Nucleic Acids Res (2010) 0.79
Perinatal onset mevalonate kinase deficiency. Pediatr Dev Pathol (2011) 0.79
Ankyrin-linked hereditary spherocytosis in an African-American kindred. Am J Hematol (2008) 0.78
Human and murine erythropoiesis. Curr Opin Hematol (2015) 0.78
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood (2007) 0.78
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica (2008) 0.77
Vancomycin-resistant enterococcal bacteremia and necrotizing enterocolitis in a preterm neonate. Pediatr Infect Dis J (2005) 0.76
Bi-allelic deletions within 13q14 and transient trisomy 21 with absence of GATA1s in pediatric acute megakaryoblastic leukemia. Pediatr Blood Cancer (2011) 0.76
Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element. Blood (2004) 0.76
Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter. Mol Cell Biol (2010) 0.76
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. Br J Haematol (2004) 0.75
Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol (2008) 0.75
Partial exchange transfusion for polycythemia hyperviscosity syndrome. Am J Perinatol (2011) 0.75
Picture of the month. Blueberry muffin baby (extramedullary hematopoiesis) due to congenital cytomegalovirus infection. Arch Pediatr Adolesc Med (2007) 0.75