PubRank

George P Patrinos

Author PubWeight™ 95.27‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet 2007 4.62
2 HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002 3.65
3 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013 2.91
4 Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 2011 2.51
5 Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet 2010 2.50
6 Planning the human variome project: the Spain report. Hum Mutat 2009 2.22
7 HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat 2007 2.22
8 PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat 2007 1.75
9 Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol 2010 1.72
10 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
11 FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res 2006 1.43
12 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
13 Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 2010 1.33
14 RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med 2014 1.30
15 Personalized pharmacogenomics profiling using whole-genome sequencing. Pharmacogenomics 2014 1.26
16 Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 2013 1.23
17 ETHNOS : A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics 2010 1.15
18 Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 2009 1.10
19 Realities and expectations of pharmacogenomics and personalized medicine: impact of translating genetic knowledge into clinical practice. Pharmacogenomics 2010 1.09
20 Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Hum Mutat 2010 1.08
21 The cypriot and Iranian National Mutation Frequency Databases. Hum Mutat 2006 1.08
22 DNA hypermethylation: when tumour suppressor genes go silent. Hum Genet 2002 1.07
23 Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res 2013 1.02
24 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
25 FINDbase: a worldwide database for genetic variation allele frequencies updated. Nucleic Acids Res 2010 1.00
26 Isolation and characterization of hematopoietic transcription factor complexes by in vivo biotinylation tagging and mass spectrometry. Ann N Y Acad Sci 2005 1.00
27 Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs. EMBO Rep 2014 0.99
28 Erythroid phenotypes associated with KLF1 mutations. Haematologica 2011 0.99
29 Hypermethylation-associated transcriptional silencing of E-cadherin in primary sporadic colorectal carcinomas. J Pathol 2002 0.98
30 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
31 Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder. Pharmacogenomics 2011 0.96
32 Direct-access genetic testing: the view from Europe. Nat Rev Genet 2011 0.96
33 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
34 VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics 2012 0.95
35 Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol 2008 0.93
36 Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase. Pharmacogenomics 2011 0.92
37 Cytokine serum levels in patients with chronic HCV infection. J Clin Lab Anal 2002 0.92
38 Relevance of pharmacogenomics for developing countries in Europe. Drug Metabol Drug Interact 2011 0.89
39 The Israeli National Genetic Database. Isr Med Assoc J 2009 0.88
40 Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem 2009 0.88
41 Stakeholder analysis in pharmacogenomics and genomic medicine in Greece. Public Health Genomics 2014 0.87
42 An overview of current microarray-based human globin gene mutation detection methods. Hemoglobin 2007 0.86
43 Genetic databases and their potential in pharmacogenomics. Curr Pharm Des 2010 0.86
44 Pharmacogenomics and public health: implementing 'populationalized' medicine. Pharmacogenomics 2012 0.85
45 Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece. Hemoglobin 2010 0.85
46 Economic evaluation of pharmacogenomics: a value-based approach to pragmatic decision making in the face of complexity. Public Health Genomics 2014 0.85
47 An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. Hemoglobin 2009 0.85
48 A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes. J Mol Med (Berl) 2001 0.84
49 Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics 2010 0.84
50 DruGeVar: an online resource triangulating drugs with genes and genomic biomarkers for clinical pharmacogenomics. Public Health Genomics 2014 0.84
51 A pharmacokinetic binding model for bevacizumab and VEGF165 in colorectal cancer patients. Cancer Chemother Pharmacol 2015 0.84
52 Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience. Public Health Genomics 2015 0.84
53 Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1. Am J Hematol 2007 0.83
54 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
55 Assessment of the pharmacogenomics educational environment in Southeast Europe. Public Health Genomics 2014 0.83
56 Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine. Pharmacogenomics 2012 0.82
57 Identical mutations in the paralogous human γ-globin genes leading to hemoglobin variants and nondeletional hereditary persistence of fetal hemoglobin. Hemoglobin 2011 0.81
58 Clinical applicability of sequence variations in genes related to drug metabolism. Curr Drug Metab 2011 0.81
59 KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients. Pharmacogenomics 2012 0.81
60 Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection. Hum Genomics 2013 0.81
61 A call for pharmacogenovigilance and rapid falsification in the age of big data: why not first road test your biomarker? OMICS 2014 0.80
62 6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics 2012 0.80
63 Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey. Genomics 2012 0.80
64 Transcriptional regulation and pharmacogenomics. Pharmacogenomics 2011 0.79
65 Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine. Pharmacogenomics 2012 0.79
66 Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion. Pharmacogenomics 2011 0.79
67 Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int 2013 0.79
68 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
69 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
70 A dual reporter mouse model of the human β-globin locus: applications and limitations. PLoS One 2012 0.78
71 Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imaging. J Hum Genet 2009 0.77
72 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
73 Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysis. Am J Hematol 2006 0.77
74 Clinical application of pharmacogenomics: the example of HLA-based drug-induced toxicity. Public Health Genomics 2014 0.77
75 The 5' regulatory region of the human fetal globin genes is a gene conversion hotspot. Hemoglobin 2008 0.77
76 Genetics of myasthenia gravis: a case-control association study in the Hellenic population. Clin Dev Immunol 2012 0.77
77 Genomics into Healthcare: the 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium. Hum Mutat 2014 0.77
78 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
79 Genetic databases in pharmacogenomics: the Frequency of Inherited Disorders Database (FINDbase). Methods Mol Biol 2013 0.76
80 Association study of human VN1R1 pheromone receptor gene alleles and gender. Genet Test 2007 0.76
81 Personal genomics in Greece: an overview of available direct-to-consumer genomic services and the relevant legal framework. Public Health Genomics 2014 0.76
82 Economic evaluation of pharmacogenomic-guided warfarin treatment for elderly Croatian atrial fibrillation patients with ischemic stroke. Pharmacogenomics 2015 0.76
83 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
84 Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting. Hum Mutat 2013 0.76
85 Clarity and claims in variation/mutation databasing. Nat Biotechnol 2011 0.75
86 Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One 2017 0.75
87 6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy. Hum Genomics 2012 0.75
88 Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients. Pharmacogenomics 2014 0.75
89 Towards a hybrid model for the cryopreservation of umbilical cord blood stem cells. Nat Rev Cancer 2008 0.75
90 Association of genome variations in the renin-angiotensin system with physical performance. Hum Genomics 2012 0.75
91 General considerations for integrating pharmacogenomics into mainstream medical practice. Hum Genomics 2010 0.75
92 Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemia. Am J Hematol 2008 0.75
93 High frequency of concomitant nm23-H1 and E-cadherin transcriptional inactivation in primary non-inheriting colorectal carcinomas. J Mol Med (Berl) 2003 0.75
94 Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy. Pharmacogenomics 2013 0.75
95 Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin. Ann Hematol 2012 0.75
96 Exosomes: A Cancer Theranostics Road Map. Public Health Genomics 2017 0.75
97 The Rise and Rise of Exome Sequencing. Public Health Genomics 2016 0.75
98 First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population. Hemoglobin 2011 0.75
99 Application of the DruGeVar Database in Cancer Genomics and Pharmacogenomics. Public Health Genomics 2017 0.75
100 A versatile denaturing HPLC approach for human beta-globin gene mutation screening. Am J Hematol 2007 0.75
101 Cancer Genomics and Public Health. Public Health Genomics 2017 0.75
102 Individualizing clozapine and risperidone treatment for schizophrenia patients. Pharmacogenomics 2014 0.75
103 Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro]. Hemoglobin 2004 0.75
104 Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics 2016 0.75