Published in Am J Hematol on November 01, 2007
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet (2010) 0.95
DNase I hypersensitive site II of the human growth hormone locus control region mediates an essential and distinct long-range enhancer function. J Biol Chem (2012) 0.89
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. Ann Hematol (2008) 0.78
Sequence composition similarities with the 7SL RNA are highly predictive of functional genomic features. Nucleic Acids Res (2010) 0.75
Gata-3 is an essential regulator of mammary-gland morphogenesis and luminal-cell differentiation. Nat Cell Biol (2006) 7.11
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators. Cell Stem Cell (2010) 5.05
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
The 3D structure of the immunoglobulin heavy-chain locus: implications for long-range genomic interactions. Cell (2008) 3.92
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat (2002) 3.65
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91
Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells. Proc Natl Acad Sci U S A (2013) 2.71
The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm Genome (2012) 2.65
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet (2011) 2.56
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet (2011) 2.51
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet (2010) 2.50
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat (2007) 2.22
Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. Genes Dev (2004) 2.17
Human placenta is a potent hematopoietic niche containing hematopoietic stem and progenitor cells throughout development. Cell Stem Cell (2009) 1.85
PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat (2007) 1.75
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Directed migration of cortical interneurons depends on the cell-autonomous action of Sip1. Neuron (2013) 1.67
Immunoglobulin genes in multiple myeloma: expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases. Haematologica (2006) 1.67
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat (2009) 1.64
Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res (2012) 1.58
GRIMP: a web- and grid-based tool for high-speed analysis of large-scale genome-wide association using imputed data. Bioinformatics (2009) 1.53
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat (2007) 1.41
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
Transcriptome and phenotypic analysis reveals Gata3-dependent signalling pathways in murine hair follicles. Development (2006) 1.32
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Gata2 is required for HSC generation and survival. J Exp Med (2013) 1.26
Personalized pharmacogenomics profiling using whole-genome sequencing. Pharmacogenomics (2014) 1.26
Detection and species identification of Old World Leishmania in clinical samples using a PCR-based method. Trans R Soc Trop Med Hyg (2007) 1.25
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res (2013) 1.23
Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors. J Cell Biol (2009) 1.22
Clinical implications for vascular endothelial growth factor in the lung: friend or foe? Respir Res (2006) 1.22
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest (2014) 1.14
In vivo live imaging of RNA polymerase II transcription factories in primary cells. Genes Dev (2013) 1.12
r3Cseq: an R/Bioconductor package for the discovery of long-range genomic interactions from chromosome conformation capture and next-generation sequencing data. Nucleic Acids Res (2013) 1.11
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med (2009) 1.10
Realities and expectations of pharmacogenomics and personalized medicine: impact of translating genetic knowledge into clinical practice. Pharmacogenomics (2010) 1.09
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Hum Mutat (2010) 1.08
The cypriot and Iranian National Mutation Frequency Databases. Hum Mutat (2006) 1.08
DNA hypermethylation: when tumour suppressor genes go silent. Hum Genet (2002) 1.07
Enhancers and silencers: an integrated and simple model for their function. Epigenetics Chromatin (2012) 1.05
EZH2-dependent chromatin looping controls INK4a and INK4b, but not ARF, during human progenitor cell differentiation and cellular senescence. Epigenetics Chromatin (2009) 1.05
Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function. Cell Rep (2013) 1.03
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. Bone (2012) 1.03
Optimal use of tandem biotin and V5 tags in ChIP assays. BMC Mol Biol (2009) 1.02
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res (2013) 1.02
A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F. Mol Cell Biol (2008) 1.01
RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet (2012) 1.01
FINDbase: a worldwide database for genetic variation allele frequencies updated. Nucleic Acids Res (2010) 1.00
Isolation and characterization of hematopoietic transcription factor complexes by in vivo biotinylation tagging and mass spectrometry. Ann N Y Acad Sci (2005) 1.00
Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis (2004) 1.00
Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs. EMBO Rep (2014) 0.99
Erythroid phenotypes associated with KLF1 mutations. Haematologica (2011) 0.99
Hypermethylation-associated transcriptional silencing of E-cadherin in primary sporadic colorectal carcinomas. J Pathol (2002) 0.98
Super-resolution imaging reveals three-dimensional folding dynamics of the β-globin locus upon gene activation. J Cell Sci (2012) 0.97
Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation. Mol Cell Proteomics (2012) 0.97
A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software. Hum Mutat (2009) 0.97
Direct-access genetic testing: the view from Europe. Nat Rev Genet (2011) 0.96
Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder. Pharmacogenomics (2011) 0.96
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country. Am J Hematol (2007) 0.95
VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics (2012) 0.95
The Gata3 transcription factor is required for the survival of embryonic and adult sympathetic neurons. J Neurosci (2010) 0.95
Fetal globin expression is regulated by Friend of Prmt1. Blood (2010) 0.94
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol (2008) 0.93
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat (2005) 0.92
Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase. Pharmacogenomics (2011) 0.92
Cytokine serum levels in patients with chronic HCV infection. J Clin Lab Anal (2002) 0.92
Relevance of pharmacogenomics for developing countries in Europe. Drug Metabol Drug Interact (2011) 0.89
The Israeli National Genetic Database. Isr Med Assoc J (2009) 0.88
Fine-structured multi-scaling long-range correlations in completely sequenced genomes--features, origin, and classification. Eur Biophys J (2009) 0.88
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem (2009) 0.88
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur J Hum Genet (2013) 0.87
Stakeholder analysis in pharmacogenomics and genomic medicine in Greece. Public Health Genomics (2014) 0.87
Identification of multiple subsets of ventral interneurons and differential distribution along the rostrocaudal axis of the developing spinal cord. PLoS One (2013) 0.87
Combined GSTP1 and NQO1 germline polymorphisms in the susceptibility to Multiple Sclerosis. Int J Neurosci (2014) 0.86
Bone morphogenetic proteins (BMPs) expression in the femoral heads of patients with avascular necrosis. Mol Biol Rep (2013) 0.86
An overview of current microarray-based human globin gene mutation detection methods. Hemoglobin (2007) 0.86
Genetic databases and their potential in pharmacogenomics. Curr Pharm Des (2010) 0.86
Economic evaluation of pharmacogenomics: a value-based approach to pragmatic decision making in the face of complexity. Public Health Genomics (2014) 0.85
Pharmacogenomics and public health: implementing 'populationalized' medicine. Pharmacogenomics (2012) 0.85
Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece. Hemoglobin (2010) 0.85
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. Hemoglobin (2009) 0.85
A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. J Mol Med (Berl) (2001) 0.84
cAMP response element-binding protein 1 is required for hydroxyurea-mediated induction of γ-globin expression in K562 cells. Clin Exp Pharmacol Physiol (2012) 0.84
Visualization, analysis, and design of COMBO-FISH probes in the grid-based GLOBE 3D genome platform. Stud Health Technol Inform (2010) 0.84
Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics (2010) 0.84
DruGeVar: an online resource triangulating drugs with genes and genomic biomarkers for clinical pharmacogenomics. Public Health Genomics (2014) 0.84