Search Results - "Van Driest, S L"

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    Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing by Van Driest, SL, Shi, Y, Bowton, EA, Schildcrout, JS, Peterson, JF, Pulley, J, Denny, JC, Roden, DM

    Published in Clinical pharmacology and therapeutics (01-04-2014)
    “…Since September 2010, more than 10,000 patients have undergone preemptive, panel‐based pharmacogenomic testing through the Vanderbilt Pharmacogenomic Resource…”
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    Attitudes of clinicians following large-scale pharmacogenomics implementation by Peterson, J F, Field, J R, Shi, Y, Schildcrout, J S, Denny, J C, McGregor, T L, Van Driest, S L, Pulley, J M, Lubin, I M, Laposata, M, Roden, D M, Clayton, E W

    Published in The pharmacogenomics journal (01-08-2016)
    “…Clinician attitudes toward multiplexed genomic testing may be vital to the success of translational programs. We surveyed clinicians at an academic medical…”
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    Inclusion of Pediatric Samples in an Opt-Out Biorepository Linking DNA to De-Identified Medical Records: Pediatric BioVU by McGregor, T L, Van Driest, S L, Brothers, K B, Bowton, E A, Muglia, L J, Roden, D M

    Published in Clinical pharmacology and therapeutics (01-02-2013)
    “…The Vanderbilt DNA repository, BioVU, links DNA from leftover clinical blood samples to de‐identified electronic medical records (EMRs). After initiating adult…”
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    From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy by Van Driest, S L, Maron, B J, Ackerman, M J

    Published in Heart (British Cardiac Society) (01-01-2004)
    “…The genetic causes of hypertrophic cardiomyopathy are diverse and thus present challenges in the development of genetic tests to identify patients at risk…”
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    Association Between Early Postoperative Acetaminophen Exposure and Acute Kidney Injury in Pediatric Patients Undergoing Cardiac Surgery by Van Driest, Sara L, Jooste, Edmund H, Shi, Yaping, Choi, Leena, Darghosian, Leon, Hill, Kevin D, Smith, Andrew H, Kannankeril, Prince J, Roden, Dan M, Ware, Lorraine B

    Published in JAMA pediatrics (01-07-2018)
    “…Acute kidney injury (AKI) is a common and serious complication for pediatric cardiac surgery patients associated with increased morbidity, mortality, and…”
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    Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy by Van Driest, Sara L., Vasile, Vlad C., Ommen, Steve R., Will, Melissa L., Tajik, A.Jamil, Gersh, Bernard J., Ackerman, Michael J.

    “…We sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic…”
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    Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations by Binder, Josepha, Ommen, Steve R, Gersh, Bernard J, Van Driest, Sara L, Tajik, A Jamil, Nishimura, Rick A, Ackerman, Michael J

    Published in Mayo Clinic proceedings (01-04-2006)
    “…To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations…”
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    Yield of genetic testing in hypertrophic cardiomyopathy by Van Driest, Sara L, Ommen, Steve R, Tajik, A Jamil, Gersh, Bernard J, Ackerman, Michael J

    Published in Mayo Clinic proceedings (01-06-2005)
    “…To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric…”
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    Comprehensive Analysis of the Beta-Myosin Heavy Chain Gene in 389 Unrelated Patients With Hypertrophic Cardiomyopathy by Van Driest, Sara L., Jaeger, Michele A., Ommen, Steve R., Will, Melissa L., Gersh, Bernard J., Tajik, A. Jamil, Ackerman, Michael J.

    “…We sought to determine the prevalence and phenotype of beta-myosin heavy chain gene MYH7mutations in a large cohort of unrelated patients with hypertrophic…”
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    Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy by Van Driest, Sara L, Ellsworth, Erik G, Ommen, Steve R, Tajik, A Jamil, Gersh, Bernard J, Ackerman, Michael J

    Published in Circulation (New York, N.Y.) (29-07-2003)
    “…Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific…”
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    Sarcomeric genotyping in hypertrophic cardiomyopathy by Van Driest, Sara L, Ommen, Steve R, Tajik, A Jamil, Gersh, Bernard J, Ackerman, Michael J

    Published in Mayo Clinic proceedings (01-04-2005)
    “…To pool results from studies of patients with hypertrophic cardiomyopathy (HCM) to elucidate important phenotypic differences among genotypes. Data published…”
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    Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing by Westbrook, Matthew J., Wright, M. Frances, Van Driest, Sara L., McGregor, Tracy L., Denny, Joshua C., Zuvich, Rebecca L., Clayton, Ellen Wright, Brothers, Kyle B.

    Published in Genetics in medicine (01-05-2013)
    “…Purpose: Greater clinical validity and economic feasibility are driving the more widespread use of multiplex genetic technologies in routine clinical care,…”
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    Prevalence and severity of benign mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy by VAN DRIEST, Sara L, ACKERMAN, Michael J, OMMEN, Steve R, SHAKUR, Rameen, WILL, Melissa L, NISHIMURA, Rick A, TAJIK, A. Jamil, GERSH, Bernard J

    Published in Circulation (New York, N.Y.) (10-12-2002)
    “…Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with…”
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    Gene-specific modifying effects of pro-LVH polymorphisms involving the renin–angiotensin–aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy by Perkins, Meghan J., Van Driest, Sara L., Ellsworth, Erik G., Will, Melissa L., Gersh, Bernard J., Ommen, Steve R., Ackerman, Michael J.

    Published in European heart journal (01-11-2005)
    “…Aims The purpose of this study was to determine whether the deletion/insertion (D/I) polymorphism in the ACE-encoded angiotensin-converting enzyme or the…”
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    A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood by Van Driest, Sara L, Will, Melissa L, Atkins, Dianne L, Ackerman, Michael J

    Published in The American journal of cardiology (15-11-2002)
    “…We sought to define the pathogenic mutation in a family with hypertrophic cardiomyopathy (HC) and a markedly arrhythmogenic phenotype. The proband was an…”
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    Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy by Van Driest, Sara L., Gakh, Oleksandr, Ommen, Steve R., Isaya, Grazia, Ackerman, Michael J.

    Published in Molecular genetics and metabolism (01-08-2005)
    “…Hypertrophic cardiomyopathy is associated with marked genetic and phenotypic heterogeneity. Pathogenic mutations in the 10 hypertrophic…”
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