Search Results - "McCarthy, Jeanette"
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Genomic medicine: a decade of successes, challenges, and opportunities
Published in Science translational medicine (12-06-2013)“…Genomic medicine--an aspirational term 10 years ago--is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to…”
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Replicated Association Between an IL28B Gene Variant and a Sustained Response to Pegylated Interferon and Ribavirin
Published in Gastroenterology (New York, N.Y. 1943) (01-06-2010)“…Background & Aims Patients with chronic hepatitis C virus (HCV) infections are treated with pegylated interferon and ribavirin (PEG-IFN/RBV), which is…”
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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Published in Genome medicine (14-10-2021)“…Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for…”
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Interferon‐lambda genotype and low serum low‐density lipoprotein cholesterol levels in patients with chronic hepatitis C infection
Published in Hepatology (Baltimore, Md.) (01-06-2010)“…Recently, genetic polymorphisms occurring in the interferon (IFN)‐lambda gene region were associated with response to IFN‐based treatment of hepatitis C…”
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The use of single-nucleotide polymorphism maps in pharmacogenomics
Published in Nature biotechnology (01-05-2000)“…Single-nucleotide polymorphisms (SNPs), common variations among the DNA of individuals, are being uncovered and assembled into large SNP databases that promise…”
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Characterization of the poly-T variant in the TOMM40 gene in diverse populations
Published in PloS one (16-02-2012)“…We previously discovered that a polymorphic, deoxythymidine-homopolymer (poly-T, rs10524523) in intron 6 of the TOMM40 gene is associated with age-of-onset of…”
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Genome-Wide Association Study of Lp-PLA2 Activity and Mass in the Framingham Heart Study
Published in PLoS genetics (29-04-2010)“…Lipoprotein-associated phospholipase A 2 (Lp-PLA 2 ) is an emerging risk factor and therapeutic target for cardiovascular disease. The activity and mass of…”
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8
Clinical application of pharmacogenetics: focusing on practical issues
Published in Pharmacogenomics (01-10-2015)“…Recent large-scale genetic-based studies have transformed the field of pharmacogenetics to identify, characterize and leverage genetic information to inform…”
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Beneficial IL28B genotype associated with lower frequency of hepatic steatosis in patients with chronic hepatitis C
Published in Journal of hepatology (01-12-2011)“…Background & Aims IL28B polymorphisms have been associated with both treatment induced and spontaneous clearance of hepatitis C virus (HCV). We previously…”
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Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study
Published in PLoS genetics (29-04-2010)“…Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is an emerging risk factor and therapeutic target for cardiovascular disease. The activity and mass of…”
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Personalized medicine: revolutionizing drug discovery and patient care
Published in Trends in biotechnology (Regular ed.) (01-12-2001)“…Advances in human genome research are opening the door to a new paradigm for practising medicine that promises to transform healthcare. Personalized medicine,…”
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Toward clinical genomics in everyday medicine: perspectives and recommendations
Published in Expert review of molecular diagnostics (03-05-2016)“…Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare…”
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Reply to: “Favorable association between genetic polymorphisms near the IL28B gene and hepatic steatosis: Direct or indirect?”
Published in Journal of hepatology (01-03-2012)Get full text
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High predictive accuracy of an unbiased proteomic profile for sustained virologic response in chronic hepatitis C patients
Published in Hepatology (Baltimore, Md.) (01-06-2011)“…Chronic hepatitis C (CHC) infection is a leading cause of endstage liver disease. Current standard‐of‐care (SOC) interferon‐based therapy results in sustained…”
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Gene by sex interaction in the etiology of coronary heart disease and the preceding metabolic syndrome
Published in Nutrition, metabolism, and cardiovascular diseases (01-02-2007)“…Abstract Background Despite decades of research, the genetic basis of coronary heart disease and its metabolic risk factors is poorly understood. Few studies…”
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Characterization of serum proteins associated with IL28B genotype among patients with chronic hepatitis C
Published in PloS one (05-07-2011)“…Polymorphisms near the IL28B gene (e.g. rs12979860) encoding interferon λ3 have recently been associated with both spontaneous clearance and treatment response…”
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Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels
Published in Thrombosis and haemostasis (01-12-2011)“…Few studies are available in human populations investigating involvement of vascular inflammation and oxidative stress-related dysfunctional transformation of…”
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A note from the editors
Published in Personalized medicine (01-07-2018)Get more information
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Driving personalized medicine forward: the who, what, when, and how of educating the health‐care workforce
Published in Molecular genetics & genomic medicine (01-11-2014)“…First I will address the Who question. According to the American Board of Genetic Counselors, there are currently ~3500 certified genetic counselors in the US…”
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The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant
Published in Neurogenetics (01-02-2011)“…Genetic variability at the 3′ region of SNCA locus has been repeatedly associated with susceptibility to sporadic Parkinson’s disease (PD). Accumulated…”
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