Published in Hum Mutat on October 01, 2007
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
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.41
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res (2013) 1.02
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat (2011) 0.99
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. Hum Genet (2010) 0.96
Genetics and genomic medicine in Israel. Mol Genet Genomic Med (2014) 0.89
A database for inborn errors of metabolism in the Indian state of Andhra Pradesh. Bioinformation (2010) 0.86
Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine. Pharmacogenomics (2012) 0.82
A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med J (2014) 0.81
Indian genetic disease database. Nucleic Acids Res (2010) 0.78
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing. BMC Med Genomics (2016) 0.75
The Israeli National Genetic database: a 10-year experience. Hum Genomics (2017) 0.75
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
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
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
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat (2007) 2.22
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
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
CoPub Mapper: mining MEDLINE based on search term co-publication. BMC Bioinformatics (2005) 1.71
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
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Personalized pharmacogenomics profiling using whole-genome sequencing. Pharmacogenomics (2014) 1.26
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res (2013) 1.23
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. Hum Mutat (2005) 1.21
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics (2010) 1.15
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
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
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
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
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
Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder. Pharmacogenomics (2011) 0.96
Direct-access genetic testing: the view from Europe. Nat Rev Genet (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
SET-CAN, the product of the t(9;9) in acute undifferentiated leukemia, causes expansion of early hematopoietic progenitors and hyperproliferation of stomach mucosa in transgenic mice. Am J Pathol (2007) 0.95
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol (2008) 0.93
Cytokine serum levels in patients with chronic HCV infection. J Clin Lab Anal (2002) 0.92
Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase. Pharmacogenomics (2011) 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
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem (2009) 0.88
Stakeholder analysis in pharmacogenomics and genomic medicine in Greece. Public Health Genomics (2014) 0.87
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
Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece. Hemoglobin (2010) 0.85
Pharmacogenomics and public health: implementing 'populationalized' medicine. Pharmacogenomics (2012) 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
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
A pharmacokinetic binding model for bevacizumab and VEGF165 in colorectal cancer patients. Cancer Chemother Pharmacol (2015) 0.84
Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience. Public Health Genomics (2015) 0.84
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease. Hum Mutat (2010) 0.83
Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1. Am J Hematol (2007) 0.83
Assessment of the pharmacogenomics educational environment in Southeast Europe. Public Health Genomics (2014) 0.83
Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine. Pharmacogenomics (2012) 0.82
Clinical applicability of sequence variations in genes related to drug metabolism. Curr Drug Metab (2011) 0.81
Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection. Hum Genomics (2013) 0.81
Identical mutations in the paralogous human γ-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. Hemoglobin (2011) 0.81
KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients. Pharmacogenomics (2012) 0.81
A call for pharmacogenovigilance and rapid falsification in the age of big data: why not first road test your biomarker? OMICS (2014) 0.80
Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey. Genomics (2012) 0.80
6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics (2012) 0.80
Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine. Pharmacogenomics (2012) 0.79
Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion. Pharmacogenomics (2011) 0.79
Transcriptional regulation and pharmacogenomics. Pharmacogenomics (2011) 0.79
Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int (2013) 0.79
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
Compound heterozygosity for the Cretan type of non-deletional hereditary persistence of fetal hemoglobin and beta-thalassemia or Hb Sabine confirms the functional role of the Agamma -158 C>T mutation in gamma-globin gene transcription. Blood Cells Mol Dis (2008) 0.78
A dual reporter mouse model of the human β-globin locus: applications and limitations. PLoS One (2012) 0.78
Genomics into Healthcare: the 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium. Hum Mutat (2014) 0.77
Genetics of myasthenia gravis: a case-control association study in the Hellenic population. Clin Dev Immunol (2012) 0.77
Clinical application of pharmacogenomics: the example of HLA-based drug-induced toxicity. Public Health Genomics (2014) 0.77
Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imaging. J Hum Genet (2009) 0.77
Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women. Calcif Tissue Int (2012) 0.77
The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot. Hemoglobin (2008) 0.77
Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis. Am J Hematol (2006) 0.77
Economic evaluation of pharmacogenomic-guided warfarin treatment for elderly Croatian atrial fibrillation patients with ischemic stroke. Pharmacogenomics (2015) 0.76
A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype. Hemoglobin (2012) 0.76
Personal genomics in Greece: an overview of available direct-to-consumer genomic services and the relevant legal framework. Public Health Genomics (2014) 0.76
Genetic databases in pharmacogenomics: the Frequency of Inherited Disorders Database (FINDbase). Methods Mol Biol (2013) 0.76
Association study of human VN1R1 pheromone receptor gene alleles and gender. Genet Test (2007) 0.76
Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene. J Clin Lab Anal (2003) 0.76
Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting. Hum Mutat (2013) 0.76
Clarity and claims in variation/mutation databasing. Nat Biotechnol (2011) 0.75
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One (2017) 0.75
Association of genome variations in the renin-angiotensin system with physical performance. Hum Genomics (2012) 0.75
Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients. Pharmacogenomics (2014) 0.75
General considerations for integrating pharmacogenomics into mainstream medical practice. Hum Genomics (2010) 0.75
Towards a hybrid model for the cryopreservation of umbilical cord blood stem cells. Nat Rev Cancer (2008) 0.75
6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy. Hum Genomics (2012) 0.75
First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population. Hemoglobin (2011) 0.75
The Rise and Rise of Exome Sequencing. Public Health Genomics (2016) 0.75