Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Clayton E FriedmanShawn FayerSriram PendyalaWei-Ming ChienAlexander M LoibenLinda TranLeslie S ChaoAshley McKinstryDania AhmedStephen D FarrisApril Stempien-OteroErica C JonlinCharles E MurryJoshua T SchifferDouglas M FowlerKai-Chun YangPublished 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
- endothelial cells
- newly diagnosed
- ejection fraction
- chronic kidney disease
- high resolution
- peritoneal dialysis
- palliative care
- high throughput
- intellectual disability
- single cell
- hypertrophic cardiomyopathy
- mass spectrometry
- autism spectrum disorder
- patient reported
- bioinformatics analysis