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My laboratory research focus is to elucidate the mechanisms by which mutations in genes associated with inherited cardiomyopathy alter molecular signals to cause decompensation in heart function. I primarily utilize a human cardiomyocyte model system derived from human induced pluripotent stem cells (hiPSCs). My laboratory generates these cells both from patient skin samples and through genome engineering. The iPSCcardiomyocyte model has many advantages over rodent and other in vitro models, creating new avenues for discovery of molecular disease mechanisms in human heart cells. To fully leverage this powerful human model system, my laboratory has collaborated with bioengineers to develop highly precise methods to investigate excitation-contraction coupling in single cells using bioengineered cell culture platforms and analysis tools. In addition, we are developing integrative genomics and bioinformatics-based approaches that will be critical to understanding molecular mechanisms by which single gene mutations lead to downstream adverse remoding. My work has a strong translational emphasis on the clinical disease with a long-term goal of identification of disease mechanisms that will directly lead to new medical therapies for inherited heart disease.
Active clinical research includes genotype-phenotype correlations and risk prediction of sudden cardiac death in hypertrophic cardiomyopathy and ARVC (arrhythmogenic right ventricular cardiomyopathy).
Research Interests
Papers共 95 篇Author StatisticsCo-AuthorSimilar Experts
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Shannon M Lacy, Rebecca J Taubitz,Nicholas D Urban, Samantha N Turowski,Eric D Smith,Adam S Helms,Daniel E Michele,Matthias C Truttmann
bioRxiv : the preprint server for biology (2024)
EUROPEAN HEART JOURNALno. 32 (2024): 2968-2979
Current protocolsno. 4 (2024): e1025-e1025
CUREUS JOURNAL OF MEDICAL SCIENCEno. 1 (2024): e52166-e52166
Nicole K. Bart,Sophie Stroeks,Sadiya S. Khan,Nosheen Reza,Iacopo Olivotto,Christoffer Vissing, Corine Sinnette,Anjali T. Owens,Alessandra Fornaro,Luisa Mestroni,Matthew Taylor,Adam S. Helms,
CIRCULATION (2023)
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Author Statistics
#Papers: 87
#Citation: 2563
H-Index: 25
G-Index: 50
Sociability: 6
Diversity: 2
Activity: 24
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