Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy CN Toepfer, AC Garfinkel, G Venturini, H Wakimoto, G Repetti, L Alamo, ... Circulation 141 (10), 828-842, 2020 | 251 | 2020 |
SarcTrack: an adaptable software tool for efficient large-scale analysis of sarcomere function in hiPSC-cardiomyocytes CN Toepfer, A Sharma, M Cicconet, AC Garfinkel, M Mücke, M Neyazi, ... Circulation research 124 (8), 1172-1183, 2019 | 107 | 2019 |
CRISPR/Cas9‐mediated fluorescent tagging of endogenous proteins in human pluripotent stem cells A Sharma, CN Toepfer, T Ward, L Wasson, R Agarwal, DA Conner, JH Hu, ... Current protocols in human genetics 96 (1), 21.11. 1-21.11. 20, 2018 | 82 | 2018 |
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm A Sharma, LK Wasson, JAL Willcox, SU Morton, JM Gorham, ... Elife 9, e53278, 2020 | 48 | 2020 |
Filamin C cardiomyopathy variants cause protein and lysosome accumulation R Agarwal, JA Paulo, CN Toepfer, JK Ewoldt, S Sundaram, A Chopra, ... Circulation research 129 (7), 751-766, 2021 | 38 | 2021 |
Feedback regulation of Caulobacter crescentus holdfast synthesis by flagellum assembly via the holdfast inhibitor HfiA C Berne, CK Ellison, R Agarwal, GB Severin, A Fiebig, RI Morton III, ... Molecular microbiology 110 (2), 219-238, 2018 | 34 | 2018 |
Expanding the clinical and genetic spectrum of ALPK3 variants: phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants JC Herkert, JMA Verhagen, R Yotti, A Haghighi, DG Phelan, PA James, ... American Heart Journal 225, 108-119, 2020 | 32 | 2020 |
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere R Agarwal, H Wakimoto, JA Paulo, Q Zhang, D Reichart, C Toepfer, ... Circulation 146 (22), 1674-1693, 2022 | 16 | 2022 |
Congenital Heart Defects Due to TAF1 Missense Variants SU Morton, R Agarwal, JA Madden, CA Genetti, CA Brownstein, ... Circulation: Genomic and Precision Medicine 13 (3), e002843, 2020 | 10 | 2020 |
Human Induced Pluripotent Stem Cells Model Gata6-associated Congenital Heart Disease A Sharma, L Wasson, J Willcox, S Morton, J Gorham, D DeLaughter, ... Circulation 140 (Suppl_1), A9899-A9899, 2019 | 1 | 2019 |
Identification and Characterization of a Titin Enhancer using CRISPR/Cas9 Genome Editing and hiPSC-Derived Cardiomyocytes M Neyazi, M Schmid, A Sharma, CN Toepfer, Y Kim, LK Wasson, SW Kim, ... Circulation Research 125 (Suppl_1), A104-A104, 2019 | | 2019 |
Efficient Large-scale Sarcomere Tracking (sarctrack) to Assess HCM Variants in iPSC-CMs C Toepfer, A Sharma, A Garfinkel, M Cicconet, R Agarwal, A Chopra, ... Circulation Research 125 (Suppl_1), A341-A341, 2019 | | 2019 |
An Adaptable Software Tool for Efficient Large-Scale Analysis of Sarcomere Function in hiPSC-Cardiomyocytes CN Toepfer, A Sharma, M Cicconet, AC Garfinkel, M Mücke, M Neyazi, ... | | 2019 |