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

Situational awareness predicts self-management of type I diabetes in adolescents and young adults

情境意识可以预测青少年和年轻成人对1型糖尿病的自我管理能力

Cook, Paul F; Jost, Emily; Forlenza, Gregory; Messer, Laurel H; Thompson, Solus; Peck, Evan; Voida, Stephen

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome

自动化膜片钳数据可提高SCN5A-布鲁加达综合征的变异分类和外显率分层。

O'Neill, Matthew J; Ma, Joanne G; Aldridge, Jessa L; Solus, Joseph F; Harvey, Genevieve R; Roberson, Paige H; Barc, Julien; Bezzina, Connie R; Roden, Dan M; Walsh, Roddy; Vandenberg, Jamie I; Glazer, Andrew M; Ng, Chai-Ann

Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target

L型钙电流增加会导致Jervell综合征和Lange-Nielsen综合征患者动作电位延长,并且是药物靶点。

Wada, Yuko; Blair, Marcia A; Strickland, Teresa L; Laudeman, Julie A; Kim, Kyungsoo; Harvey, M Lorena; Solus, Joseph F; Fountain, Darlene F; Knollmann, Bjorn C; Shoemaker, M Benjamin; Kannankeril, Prince J; Roden, Dan M

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants

ParSE-seq:一种经过校准的多重检测方法,用于对假定的剪接变异进行临床分类

Matthew J O'Neill, Tao Yang, Julie Laudeman, Maria E Calandranis, M Lorena Harvey, Joseph F Solus, Dan M Roden #, Andrew M Glazer #

The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block

KCNQ1的电生理效应不仅限于IKs的表达:来自遗传和药理学阻滞的证据

Wada, Yuko; Wang, Lili; Hall, Lynn D; Yang, Tao; Short, Laura L; Solus, Joseph F; Glazer, Andrew M; Roden, Dan M

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants

多中心验证功能性检测方法以判定与SCN5A布鲁加达综合征相关的变异

Ma, Joanne G; O'Neill, Matthew J; Richardson, Ebony; Thomson, Kate L; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F; Davogustto, Giovanni; Anderson, Katherine C; Shoemaker, M Benjamin; Stergachis, Andrew B; Floyd, Brendan J; Dunn, Kyla; Parikh, Victoria N; Chubb, Henry; Perrin, Mark J; Roden, Dan M; Vandenberg, Jamie I; Ng, Chai-Ann; Glazer, Andrew 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

ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants

ParSE-seq:一种经过校准的多重检测方法,用于促进假定剪接变异的临床分类

Matthew J O'Neill, Tao Yang, Julie Laudeman, Maria Calandranis, Joseph Solus, Dan M Roden, Andrew M Glazer

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

多中心验证功能性检测方法以判定与SCN5A布鲁加达综合征相关的变异

Ma, Joanne G; O'Neill, Matthew J; Richardson, Ebony; Thomson, Kate L; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F; Davogustto, Giovanni; Anderson, Katherine C; Benjamin Shoemaker, M; Stergachis, Andrew B; Floyd, Brendan J; Dunn, Kyla; Parikh, Victoria N; Chubb, Henry; Perrin, Mark J; Roden, Dan M; Vandenberg, Jamie I; Ng, Chai-Ann; Glazer, Andrew M

Dominant negative effects of SCN5A missense variants

SCN5A错义变异的显性负效应

O'Neill, Matthew J; Muhammad, Ayesha; Li, Bian; Wada, Yuko; Hall, Lynn; Solus, Joseph F; Short, Laura; Roden, Dan M; Glazer, Andrew M