Search Results - "George P. Patrinos"
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Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity
Published in Human genomics (22-10-2020)“…The emergence of the novel coronavirus in Wuhan, Hubei Province, China, in December 2019 marked the synchronization of the world to a peculiar clock that is…”
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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Published in Nucleic acids research (01-01-2014)“…HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to…”
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Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living
Published in Human genomics (08-12-2023)“…The unique physiological and genetic characteristics of individuals influence their reactions to different dietary constituents and nutrients. This notion is…”
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Discovery of new drug indications for COVID-19: A drug repurposing approach
Published in PloS one (24-05-2022)“…The outbreak of coronavirus health issues caused by COVID-19(SARS-CoV-2) creates a global threat to public health. Therefore, there is a need for effective…”
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Published in Nature genetics (01-10-2013)“…Garry Cutting and colleagues report a comprehensive functional and clinical analysis of CFTR variants reported in cystic fibrosis. They determine that 128 of…”
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Computational approaches in target identification and drug discovery
Published in Computational and structural biotechnology journal (01-01-2016)“…In the big data era, voluminous datasets are routinely acquired, stored and analyzed with the aim to inform biomedical discoveries and validate hypotheses. No…”
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Medical education in pharmacogenomics—results from a survey on pharmacogenetic knowledge in healthcare professionals within the European pharmacogenomics clinical implementation project Ubiquitous Pharmacogenomics (U-PGx)
Published in European journal of clinical pharmacology (01-10-2017)“…Purpose Due to the diversity within Europe, the implementation of pharmacogenomic testing in clinical practice faces specific challenges. In the context of the…”
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Gene conversion: mechanisms, evolution and human disease
Published in Nature reviews. Genetics (01-10-2007)“…Gene conversion, one of the two mechanisms of homologous recombination, involves the unidirectional transfer of genetic material from a 'donor' sequence to a…”
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Cost-utility analysis and cross-country comparison of pharmacogenomics-guided treatment in colorectal cancer patients participating in the U-PGx PREPARE study
Published in Pharmacological research (01-11-2023)“…OBJECTIVESA cost-utility analysis was conducted to evaluate pharmacogenomic (PGx)-guided treatment compared to the standard-of-care intervention among patients…”
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Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Published in Blood (14-04-2016)“…Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with…”
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Exploring public genomics data for population pharmacogenomics
Published in PloS one (03-08-2017)“…Racial and ethnic differences in drug responses are now well studied and documented. Pharmacogenomics research seeks to unravel the genetic underpinnings of…”
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A qualitative approach to assess the opinion of physicians about the challenges and prospects of pharmacogenomic testing implementation in clinical practice in Greece
Published in Human genomics (19-07-2024)“…Pharmacogenomics (PGx) constitutes an important part of personalized medicine and has several clinical applications. PGx role in clinical practice is known,…”
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PARC report: health outcomes and value of personalized medicine interventions: impact on patient care
Published in Pharmacogenomics (01-07-2020)“…The incorporation of personalized medicine interventions into routine healthcare constitutes an opportunity to improve patients' quality of life, as it…”
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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Published in Nature genetics (01-09-2010)“…Hereditary persistence of fetal hemoglobin (HPFH) is characterized by persistent high levels of fetal hemoglobin (HbF) in adults. Several contributory factors,…”
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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Published in Journal of general internal medicine : JGIM (01-08-2014)“…ABSTRACT Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not…”
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Editorial: Brief research reports in pharmacogenetics and pharmacogenomics: 2022
Published in Frontiers in pharmacology (03-03-2023)Get full text
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VEGF-A and ICAM-1 Gene Polymorphisms as Predictors of Clinical Outcome to First-Line Bevacizumab-Based Treatment in Metastatic Colorectal Cancer
Published in International journal of molecular sciences (18-11-2019)“…Bevacizumab is used to treat metastatic colorectal cancer (mCRC). However, there are still no available predictors of clinical outcomes. We investigated…”
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