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A framework for exhaustively mapping functional missense variants.
Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, Yang F, Tasan M, Tan G, Yang S, Fowler DM, Nussbaum R, Bloom JD, Vidal M, Hill DE, Aloy P, Roth FP. Weile J, et al. Among authors: fowler dm. Mol Syst Biol. 2017 Dec 21;13(12):957. doi: 10.15252/msb.20177908. Mol Syst Biol. 2017. PMID: 29269382 Free PMC article.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Manolio TA, et al. Among authors: fowler dm. Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005. Cell. 2017. PMID: 28340351 Free PMC article.
Variant Interpretation: Functional Assays to the Rescue.
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Starita LM, et al. Among authors: fowler dm. Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014. Am J Hum Genet. 2017. PMID: 28886340 Free PMC article.
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J, Ferra G, Boyle G, Pendyala S, Amorosi C, Yeh CL, Cote AG, Kishore N, Tabet D, van Loggerenberg W, Rayhan A, Fowler DM, Dunham MJ, Roth FP. Weile J, et al. Among authors: fowler dm. bioRxiv [Preprint]. 2023 Dec 7:2023.02.22.529427. doi: 10.1101/2023.02.22.529427. bioRxiv. 2023. PMID: 36865234 Free PMC article. Updated. Preprint.
87 results