日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of Their Penetrance

RYR2-CPVT错义变异的结构评估及其外显率的连续贝叶斯估计

Dauda, Kundivy; Yamauchi, Kohei; Ku, Matthew; Mitchell, Devyn W; Shen, Alex; Vanags, Loren; Schmeckpeper, Jeffrey; Kannankeril, Prince J; Knollmann, Bjorn C; O'Neill, Matthew J; Kroncke, Brett M

Kv11.1 (hERG) Protein Interaction Networks Connect Endocytic Trafficking to Polygenic Influences on Cardiac Repolarization

Kv11.1 (hERG) 蛋白相互作用网络将内吞运输与心脏复极化的多基因影响联系起来

Egly, Christian L; Barny, Lea; Woo, Suah; Mitchell, Devyn; Ku, Matthew; Knollmann, Björn C; Plate, Lars; Kroncke, Brett

A high-performance extracellular field potential analyzer for iPSC-derived cardiomyocytes.

用于 iPSC 衍生心肌细胞的高性能细胞外场电位分析仪

Patel Nidhi, Shen Alex, Wada Yuko, Blair Marcia, Mitchell Devyn, Vanags Loren, Woo Suah, Ku Matthew, Dauda Kundivy, Morris William, Yang Minjoo, Knollmann Björn C, Salem Joe-Elie, Glazer Andrew M, Kroncke Brett M

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance

RYR2-CPVT错义变异的结构评估及其外显率的连续贝叶斯估计

Yamauchi, Kohei; Ku, Matthew; Mitchell, Devyn W; Shen, Alex; Dauda, Kundivy; Vanags, Loren; Schmeckpeper, Jeffrey; Knollmann, Bjorn C; O'Neill, Matthew J; Kroncke, Brett M

Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

多重变异效应检测和自动化膜片钳技术可提高KCNH2-LQTS变异分类和心脏事件风险分层能力

O'Neill, Matthew J; Ng, Chai-Ann; Aizawa, Takanori; Sala, Luca; Bains, Sahej; Winbo, Annika; Ullah, Rizwan; Shen, Qianyi; Tan, Chek-Ying; Kozek, Krystian; Vanags, Loren R; Mitchell, Devyn W; Shen, Alex; Wada, Yuko; Kashiwa, Asami; Crotti, Lia; Dagradi, Federica; Musu, Giulia; Spazzolini, Carla; Neves, Raquel; Bos, J Martijn; Giudicessi, John R; Bledsoe, Xavier; Gamazon, Eric R; Lancaster, Megan C; Glazer, Andrew M; Knollmann, Bjorn C; Roden, Dan M; Weile, Jochen; Roth, Frederick; Salem, Joe-Elie; Earle, Nikki; Stiles, Rachael; Agee, Taylor; Johnson, Christopher N; Horie, Minoru; Skinner, Jonathan R; Ackerman, Michael J; Schwartz, Peter J; Ohno, Seiko; Vandenberg, Jamie I; Kroncke, Brett M

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

多中心临床和功能证据将一种复发的非典型丝状蛋白C剪接改变变体重新分类。

O'Neill, Matthew J; Chen, Suet Nee; Rumping, Lynne; Johnson, Renee; van Slegtenhorst, Marjon; Glazer, Andrew M; Yang, Tao; Solus, Joseph F; Laudeman, Julie; Mitchell, Devyn W; Vanags, Loren R; Kroncke, Brett M; Anderson, Katherine; Gao, Shanshan; Verdonschot, Job A J; Brunner, Han; Hellebrekers, Debby; Taylor, Matthew R G; Roden, Dan M; Wessels, Marja W; Lekanne Dit Deprez, Ronald H; Fatkin, Diane; Mestroni, Luisa; Shoemaker, M Benjamin

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study

eMERGE-III测序研究中的心律失常变异关联和重新分类

Glazer, Andrew M; Davogustto, Giovanni; Shaffer, Christian M; Vanoye, Carlos G; Desai, Reshma R; Farber-Eger, Eric H; Dikilitas, Ozan; Shang, Ning; Pacheco, Jennifer A; Yang, Tao; Muhammad, Ayesha; Mosley, Jonathan D; Van Driest, Sara L; Wells, Quinn S; Shaffer, Lauren Lee; Kalash, Olivia R; Wada, Yuko; Bland, Harris T; Yoneda, Zachary T; Mitchell, Devyn W; Kroncke, Brett M; Kullo, Iftikhar J; Jarvik, Gail P; Gordon, Adam S; Larson, Eric B; Manolio, Teri A; Mirshahi, Tooraj; Luo, Jonathan Z; Schaid, Daniel; Namjou, Bahram; Alsaied, Tarek; Singh, Rajbir; Singhal, Ashutosh; Liu, Cong; Weng, Chunhua; Hripcsak, George; Ralston, James D; McNally, Elizabeth M; Chung, Wendy K; Carrell, David S; Leppig, Kathleen A; Hakonarson, Hakon; Sleiman, Patrick; Sohn, Sunghwan; Glessner, Joseph; Denny, Joshua; Wei, Wei-Qi; George, Alfred L Jr; Shoemaker, M Benjamin; Roden, Dan M

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K(V)11.1

利用高通量技术发现心脏钾通道K(V)11.1中转运缺陷的变异体

Kozek, Krystian A; Glazer, Andrew M; Ng, Chai-Ann; Blackwell, Daniel; Egly, Christian L; Vanags, Loren R; Blair, Marcia; Mitchell, Devyn; Matreyek, Kenneth A; Fowler, Douglas M; Knollmann, Bjorn C; Vandenberg, Jamie I; Roden, Dan M; Kroncke, Brett M