A5087026299- Pharmacogenetics and Drug Metabolism
- Pharmaceutical studies and practices
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Cardiac, Anesthesia and Surgical Outcomes
- Health Systems, Economic Evaluations, Quality of Life
- Acute Kidney Injury Research
- BRCA gene mutations in cancer
- Antibiotics Pharmacokinetics and Efficacy
- Cardiovascular Function and Risk Factors
- Cardiac electrophysiology and arrhythmias
- Ethics in Clinical Research
- Statistical Methods in Clinical Trials
- Congenital Heart Disease Studies
- Cardiac Valve Diseases and Treatments
- Congenital heart defects research
- Pharmacological Effects and Toxicity Studies
- Anesthesia and Sedative Agents
- Cardiovascular Effects of Exercise
- Renal Transplantation Outcomes and Treatments
- Cardiac Arrest and Resuscitation
- Childhood Cancer Survivors' Quality of Life
- Cancer Genomics and Diagnostics
- Antimicrobial Resistance in Staphylococcus
Vanderbilt University Medical Center
2016-2025
National Institutes of Health
2023-2025
Monroe Carell Jr. Children's Hospital
2012-2024
Office of the Director
2024
Northwestern University
2016-2022
PharmacoGenetics (China)
2022
Cincinnati Children's Hospital Medical Center
2022
Children's Hospital of Philadelphia
2022
Children's Hospital & Medical Center
2022
Boston Children's Hospital
2022
Opioids are mainly used to treat both acute and chronic pain. Several opioids metabolized some extent by CYP2D6 (codeine, tramadol, hydrocodone, oxycodone, methadone). Polymorphisms in have been studied for an association with the clinical effect safety of these drugs. Other genes that their opioid or adverse events include OPRM1 (mu receptor) COMT (catechol‐O‐methyltransferase). This guideline updates expands 2014 Clinical Pharmacogenetics Implementation Consortium (CPIC) genotype codeine...
Proton pump inhibitors (PPIs) are widely used for acid suppression in the treatment and prevention of many conditions, including gastroesophageal reflux disease, gastric duodenal ulcers, erosive esophagitis, Helicobacter pylori infection, pathological hypersecretory conditions. Most PPIs metabolized primarily by cytochrome P450 2C19 (CYP2C19) into inactive metabolites, CYP2C19 genotype has been linked to PPI exposure, efficacy, adverse effects. We summarize evidence from literature provide...
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach aggregates on the basis of patterns described by Mendelian diseases. mapped clinical 1204 diseases into captured from electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In initial validation, PheRS distinguished cases controls five Applying to 21,701 genotyped individuals...
Thin filament mutations are reported to cause approximately 20% of cases hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes. However, the frequency these their phenotype(s) from a large tertiary referral center population unknown.DNA was obtained 389 unrelated patients HCM. A mutational analysis all protein coding exons cardiac troponin T, I, alpha-tropomyosin, actin performed using polymerase chain reaction, denaturing high-performance liquid...
Background— Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as “benign defects,” associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of β-myosin heavy chain ( MYH7 ); S179F troponin T TNNT2 D175N α-tropomyosin TPM1 ). Routine genetic screening HCM patients for specific is anticipated to provide important diagnostic prognostic information. The frequency phenotype these in a large,...
<h3>Importance</h3> Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess relevance variants. <h3>Objective</h3> To determine EMRs for individuals with designated as pathogenic by expert review arrhythmia susceptibility genes. <h3>Design, Setting, and...
Linking of data from electronic medical records to biological specimens enables cost-effective and rapid genomic analyses.
The increased availability of clinical pharmacogenetic (PGx) guidelines and decreasing costs for genetic testing have slowly led to utilization PGx in practice. Pre-emptive testing, where is performed advance drug prescribing, one means ensure results are available at the time prescribing decisions. However, most efficient effective methods clinically implement this strategy remain unclear.In report, we compare contrast implementation strategies pre-emptive by 15 early-adopter institutions....
The value of utilizing a multigene pharmacogenetic panel to tailor pharmacotherapy is contingent on the prevalence prescribed medications with an actionable association. Clinical Pharmacogenetics Implementation Consortium (CPIC) has categorized over 35 gene-drug pairs as "level A," for which there sufficiently strong evidence recommend that genetic information be used guide drug prescribing. opportunity use among adult patients was determined by elucidating exposure CPIC level A drugs 11...