Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2 -Related Long-QT Syndrome
- 1 August 2025
- journal article
- Published by Wolters Kluwer Health in Circulation: Genomic and Precision Medicine
- Vol. 18 (4) , e005204
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk StratificationCirculation, 2024
- Clinical Variant Reclassification in Hereditary Disease Genetic TestingJAMA Network Open, 2024
- Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationHuman Genetics, 2024
- Will variants of uncertain significance still exist in 2030?The American Journal of Human Genetics, 2023
- Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteriaGenetics in Medicine, 2017