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

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

EMQN:遗传性心肌病和心律失常的基因检测建议

Hayesmoore, Jesse B; Bhuiyan, Zahurul A; Coviello, Domenico A; du Sart, Desirée; Edwards, Matthew; Iascone, Maria; Morris-Rosendahl, Deborah J; Sheils, Katie; van Slegtenhorst, Marjon; Thomson, Kate L

Reevaluation of the South Asian MYBPC3(Δ25bp) Intronic Deletion in Hypertrophic Cardiomyopathy

对肥厚型心肌病中南亚MYBPC3(Δ25bp)内含子缺失的重新评估

Harper, Andrew R; Bowman, Michael; Hayesmoore, Jesse B G; Sage, Helen; Salatino, Silvia; Blair, Edward; Campbell, Carolyn; Currie, Bethany; Goel, Anuj; McGuire, Karen; Ormondroyd, Elizabeth; Sergeant, Kate; Waring, Adam; Woodley, Jessica; Kramer, Christopher M; Neubauer, Stefan; Farrall, Martin; Watkins, Hugh; Thomson, Kate L

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

对来自肌节阴性病例基因组测序数据的51个拟议肥厚型心肌病基因进行分析,其诊断价值微乎其微。

Thomson, Kate L; Ormondroyd, Elizabeth; Harper, Andrew R; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V V; Goodship, Judith; Hayesmoore, Jesse B G; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S; Farrall, Martin; Watkins, Hugh C