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

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

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

大规模并行检测能够准确区分KCNH2热点结构域中功能正常的变异体和功能异常的变异体。

Chai-Ann Ng ,Rizwan Ullah ,Jessica Farr ,Adam P Hill ,Krystian A Kozek ,Loren R Vanags ,Devyn W Mitchell ,Brett M Kroncke ,Jamie I Vandenberg