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Science (New York, N.Y.)|October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>Daniel R Tabet, Atina G Coté, Megan C Lancaster, et al.Circulation|September 24, 2024
Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk StratificationMatthew J O'Neill, Chai-Ann Ng, Takanori Aizawa, et al.Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk StratificationMatthew J O'Neill, Chai-Ann Ng, Takanori Aizawa, et al.Circulation|December 21, 2021
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing StudyAndrew M Glazer, Giovanni Davogustto, Christian M Shaffer, et al.Nature|April 8, 2021
The NIH Somatic Cell Genome Editing programKrishanu Saha, Erik J Sontheimer, P J Brooks, et al.Pageof 54