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Author Details

Amy C Sturm
Genomic Medicine Institute, USA Heart and Vascular Institute
2004
102
24
PMIDPaper TitleJournal TitlePublished Year
37787745Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.Anesthesiology2024
36470719Sex-related differences in premature cardiovascular disease in familial hypercholesterolemia.J Clin Lipidol2023
37872640Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.Genome Med2023
37060538Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.Curr Atheroscler Rep2023
37322181International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.Nat Rev Cardiol2023
37188259Designing implementation strategies to improve identification, cascade testing, and management of families with familial hypercholesterolemia: An intervention mapping approach.Front Health Serv2023
37020233Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia.BMC Health Serv Res2023
37214500Facilitating family communication of familial hypercholesterolemia genetic risk: Assessing engagement with innovative chatbot technology from the IMPACT-FH study.PEC Innov2023
37382153Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.J Am Heart Assoc2023
37071725Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.Circ Genom Precis Med2023
36970980Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circ Genom Precis Med2023
37066275Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.medRxiv2023
34788414Population genomic screening of young adults for familial hypercholesterolaemia: a cost-effectiveness analysis.Eur Heart J2022
35616645Use of a chatbot to increase uptake of cascade genetic testing.J Genet Couns2022
35803232Digital health-enabled genomics: Opportunities and challenges.Am J Hum Genet2022
35699965Loss-of-Function <i>FLNC</i> Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.Circ Genom Precis Med2022
35668420Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.BMC Med2022
35429393Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication.Transl Behav Med2022
35692820A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Front Genet2022
35455722Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol.J Pers Med2022
35862023Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.Circ Genom Precis Med2022
35779062Translating guidelines into practice via implementation science: an update in lipidology.Curr Opin Lipidol2022
35517872Patient experiences align with the familial hypercholesterolemia global call to action.Am J Prev Cardiol2022
36556164Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program.J Pers Med2022
36143296Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative.J Pers Med2022
34557911Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.Eur Heart J2022
32782180Uncertainty management for individuals with Lynch Syndrome: Identifying and responding to healthcare barriers.Patient Educ Couns2021
33684294Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.Circ Genom Precis Med2021
33741054Evaluation of a multidisciplinary lipid clinic to improve the care of individuals with severe lipid conditions: a RE-AIM framework analysis.Implement Sci Commun2021
33849601Implementation strategies to improve statin utilization in individuals with hypercholesterolemia: a systematic review and meta-analysis.Implement Sci2021
33786929Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.J Genet Couns2021
34412507Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.Circ Genom Precis Med2021
34431361Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia.J Am Heart Assoc2021
34746851Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.JACC CardioOncol2021
34037665Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.JAMA Cardiol2021
34205662Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study.J Pers Med2021
33407432Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.BMC Med Genomics2021
33029862Impact of variant reclassification in the clinical setting of cardiovascular genetics.J Genet Couns2021
33480803Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.Circ Genom Precis Med2021
31229402Developing implementation strategies to improve uptake of guideline-recommended treatments for individuals with familial hypercholesterolemia: A protocol.Res Social Adm Pharm2020
32028596Healthcare Utilization and Costs after Receiving a Positive <i>BRCA1/2</i> Result from a Genomic Screening Program.J Pers Med2020
31983240An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.Circulation2020
31769116Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.J Genet Couns2020
33362269Barriers, facilitators, and solutions to familial hypercholesterolemia treatment.PLoS One2020
32601386Clinical outcomes of a genomic screening program for actionable genetic conditions.Genet Med2020
32698598Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.Circ Genom Precis Med2020
32340147Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results.J Pers Med2020
32507592Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.J Clin Lipidol2020
32386537Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.Am J Hum Genet2020
32413979Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.J Pers Med2020
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University of Florida, College of Medicine-Jacksonville
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Coriell Institute for Medical Research
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Mayo Clinic
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Autism and Developmental Medicine Institute
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Center for Systems Genomics, Pennsylvania State University, University Park
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The Ohio State University Comprehensive Cancer Center
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School of Public Health.
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Vanderbilt University Medical Center
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