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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ, Lentino AR, Kapplinger JD, Ye D, Zhou W, Tester DJ, Ackerman MJ. Clemens DJ, et al. Among authors: zhou w. Heart Rhythm. 2018 Apr;15(4):555-561. doi: 10.1016/j.hrthm.2017.11.032. Epub 2017 Dec 2. Heart Rhythm. 2018. PMID: 29197658 Free PMC article.
Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.
Zhou W, Bos JM, Ye D, Tester DJ, Hrstka S, Maleszewski JJ, Ommen SR, Nishimura RA, Schaff HV, Kim CS, Ackerman MJ. Zhou W, et al. J Cardiovasc Transl Res. 2019 Oct;12(5):394-403. doi: 10.1007/s12265-019-09873-6. Epub 2019 Feb 22. J Cardiovasc Transl Res. 2019. PMID: 30796699
Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
Estes SI, Ye D, Zhou W, Dotzler SM, Tester DJ, Bos JM, Kim CSJ, Ackerman MJ. Estes SI, et al. Among authors: zhou w. Circ Genom Precis Med. 2019 Aug;12(8):e002534. doi: 10.1161/CIRCGEN.119.002534. Epub 2019 Aug 20. Circ Genom Precis Med. 2019. PMID: 31430211 Free article.
Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.
Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ. Mattivi CL, et al. Among authors: zhou w. Heart Rhythm. 2020 Feb;17(2):315-323. doi: 10.1016/j.hrthm.2019.08.014. Epub 2019 Sep 5. Heart Rhythm. 2020. PMID: 31493592
21,239 results
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