Research Summary
How does a protein’s sequence encode its fold and function? How do changes in sequence influence disease risk, prognosis and treatment? How do gene expression patterns combine with protein activity to define cellular processes like growth, migration and communication? We develop new ways to probe the relationship between genotype and phenotype, enabling us to better answer these questions. To accomplish this goal, we draw on our expertise in genomics, protein science, technology development and computational approaches.
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Publications
The following publications were retrieved from PubMed:
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.
Chiasson MA, Rollins NJ, Stephany JJ, Sitko KA, Matreyek KA, Verby M, Sun S, Roth FP, DeSloover D, Marks DS, Rettie AE, Fowler DM.
Elife. 2020 Sep 1; (9)
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1.
Kozek KA, Glazer AM, Ng CA, Blackwell D, Egly CL, Vanags LR, Blair M, Mitchell D, Matreyek KA, Fowler DM, Knollmann BC, Vandenberg JI, Roden DM, Kroncke BM.
Heart Rhythm. 2020 Dec; 12(17)2180-2189
