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
- ejection fraction
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- high throughput
- palliative care
- prognostic factors
- intellectual disability
- high resolution
- hypertrophic cardiomyopathy
- patient reported outcomes
- autism spectrum disorder
- transcription factor
- mass spectrometry
- electron microscopy
- high glucose