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

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

利用基因组聚合数据库、计算致病性预测工具和膜片钳异源表达研究,将先前发表的1型长QT综合征突变从致病性降级为良性。

Clemens, Daniel J; Lentino, Anne R; Kapplinger, Jamie D; Ye, Dan; Zhou, Wei; Tester, David J; Ackerman, Michael J

Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel

利多卡因衰减试验:对SCN5A编码钠通道中假定的LQT3相关变异体的体内研究

Anderson, Heather N; Bos, J Martijn; Kapplinger, Jamie D; Meskill, Jana M; Ye, Dan; Ackerman, Michael J

The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most

精准医疗的机遇与挑战:表型分析仍然至关重要

Ackerman, Jaeger P; Bartos, Daniel C; Kapplinger, Jamie D; Tester, David J; Delisle, Brian P; Ackerman, Michael J

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

增强KCNQ1编码的Kv7.1电压门控钾通道C端突变的预测能力

Kapplinger, Jamie D; Tseng, Andrew S; Salisbury, Benjamin A; Tester, David J; Callis, Thomas E; Alders, Marielle; Wilde, Arthur A M; Ackerman, Michael J

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise

区分肥厚型心肌病相关突变与背景遗传噪音

Kapplinger, Jamie D; Landstrom, Andrew P; Bos, J Martijn; Salisbury, Benjamin A; Callis, Thomas E; Ackerman, Michael J

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

系统发育和理化分析有助于对1型和2型长QT综合征中罕见的非同义单核苷酸变异进行分类。

Giudicessi, John R; Kapplinger, Jamie D; Tester, David J; Alders, Marielle; Salisbury, Benjamin A; Wilde, Arthur A M; Ackerman, Michael J

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

一份关于接受布鲁加达综合征基因检测的患者中SCN5A编码的心脏钠通道突变的国际汇编

Kapplinger, Jamie D; Tester, David J; Alders, Marielle; Benito, Begoña; Berthet, Myriam; Brugada, Josep; Brugada, Pedro; Fressart, Véronique; Guerchicoff, Alejandra; Harris-Kerr, Carole; Kamakura, Shiro; Kyndt, Florence; Koopmann, Tamara T; Miyamoto, Yoshihiro; Pfeiffer, Ryan; Pollevick, Guido D; Probst, Vincent; Zumhagen, Sven; Vatta, Matteo; Towbin, Jeffrey A; Shimizu, Wataru; Schulze-Bahr, Eric; Antzelevitch, Charles; Salisbury, Benjamin A; Guicheney, Pascale; Wilde, Arthur A M; Brugada, Ramon; Schott, Jean-Jacques; Ackerman, Michael J

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

对前2500例连续就诊的非亲缘关系患者进行FAMILION长QT综合征基因检测,分析其突变谱及突变发生率。

Kapplinger, Jamie D; Tester, David J; Salisbury, Benjamin A; Carr, Janet L; Harris-Kerr, Carole; Pollevick, Guido D; Wilde, Arthur A M; Ackerman, Michael J