Search Results - "Tarpey, Ryan"

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation by Chunn, Lauren M, Nefcy, Diane C, Scouten, Rachel W, Tarpey, Ryan P, Chauhan, Gurinder, Lim, Megan S, Elenitoba-Johnson, Kojo S J, Schwartz, Steven A, Kiel, Mark J

“…Design and interpretation of genome sequencing assays in clinical diagnostics and research labs is complicated by an inability to identify information from the…”
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1557-P: Increased PAHSA Hydrolysis Driven by Mutant Carboxyl Ester Lipase (CEL) Contributes to Beta-Cell Dysfunction in MODY8 by SANTORO, ANNA, KAHRAMAN, SEVIM, BASILE, GIORGIO, EL JELLAS, KHADIJA, HU, JIANG, TARPEY, RYAN, JOHANSSON, BENTE B., DIRICE, ERCUMENT, SYED, ISMAIL, SIEGEL, DIONICIO, MOLVEN, ANDERS, KAHN, BARBARA B., KULKARNI, ROHIT

“…Maturity onset diabetes of the young type 8 (MODY8) is caused by genetic mutations in the CEL gene which is expressed primarily in pancreatic acinar cells…”
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Understanding the problem of digital medication inventory visibility in health systems by Ashemore, Arlin W, Akrap, Antonia, Aschermann, Lauren, Irvine, Clayton, Foley, Joshua, Scheper, John David, Tarpey, Ryan, Stevenson, James G

“…Abstract Purpose This project describes and quantifies the perceived degree of digital visibility to medication inventory throughout 6 large health systems…”
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