Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.

Clayton E Friedman Shawn Fayer Sriram PendyalaWei-Ming ChienAlexander M LoibenLinda TranLeslie S ChaoAshley McKinstryDania AhmedStephen D Farris April Stempien-Otero Erica C Jonlin Charles E Murry Joshua T Schiffer Douglas M Fowler Kai-Chun Yang

Published in: Circulation. Genomic and precision medicine (2024)

missense variants for the first time. Phenotyping strategies used here enable the application of deep mutational scanning to clinically actionable genes, which should reduce the burden of variants of unknown significance on patients and clinicians.

Keyphrases

copy number
end stage renal disease
newly diagnosed
endothelial cells
ejection fraction
chronic kidney disease
high resolution
heart failure
gene expression
intellectual disability
patient reported outcomes
autism spectrum disorder
mass spectrometry
patient reported
pluripotent stem cells