Search Results - "Van Driest, S L"
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Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing
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
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
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
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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Response to "Clinically Actionable Genotypes Among Brazilians"
Published in Clinical pharmacology and therapeutics (01-07-2014)Get full text
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A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough
Published in The pharmacogenomics journal (01-06-2016)“…The most common side effect of angiotensin-converting enzyme inhibitor (ACEi) drugs is cough. We conducted a genome-wide association study (GWAS) of…”
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Association Between Early Postoperative Acetaminophen Exposure and Acute Kidney Injury in Pediatric Patients Undergoing Cardiac Surgery
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
Published in Journal of the American College of Cardiology (02-11-2004)“…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
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
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
Published in Journal of the American College of Cardiology (04-08-2004)“…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
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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Serious Adverse Events Associated with Off-Label Use of Azithromycin or Fentanyl in Children in Intensive Care Units: A Retrospective Chart Review
Published in Paediatric drugs (01-02-2019)“…Objectives Half of prescription drugs commonly given to children lack product labeling on pediatric safety, efficacy, and dosing. Two drugs most widely used…”
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Sarcomeric genotyping in hypertrophic cardiomyopathy
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
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
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
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
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
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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