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CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs.
Friedman CE, Fayer S, Pendyala S, Chien WM, Loiben A, Tran L, Chao LS, Mckinstry A, Ahmed D, Karbassi E, Fenix AM, Murry CE, Starita LM, Fowler DM, Yang KC. Friedman CE, et al. Among authors: fowler dm. J Mol Cell Cardiol. 2023 Jun;179:60-71. doi: 10.1016/j.yjmcc.2023.03.017. Epub 2023 Apr 3. J Mol Cell Cardiol. 2023. PMID: 37019277 Free article.
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S. Starita LM, et al. Among authors: fowler dm. Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Genetics. 2015. PMID: 25823446 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.
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA, Starita LM, Stephany JJ, Martin B, Chiasson MA, Gray VE, Kircher M, Khechaduri A, Dines JN, Hause RJ, Bhatia S, Evans WE, Relling MV, Yang W, Shendure J, Fowler DM. Matreyek KA, et al. Among authors: fowler dm. Nat Genet. 2018 Jun;50(6):874-882. doi: 10.1038/s41588-018-0122-z. Epub 2018 May 21. Nat Genet. 2018. PMID: 29785012 Free PMC article.
High-throughput, microscope-based sorting to dissect cellular heterogeneity.
Hasle N, Cooke A, Srivatsan S, Huang H, Stephany JJ, Krieger Z, Jackson D, Tang W, Pendyala S, Monnat RJ Jr, Trapnell C, Hatch EM, Fowler DM. Hasle N, et al. Among authors: fowler dm. Mol Syst Biol. 2020 Jun;16(6):e9442. doi: 10.15252/msb.20209442. Mol Syst Biol. 2020. PMID: 32500953 Free PMC article.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM. Fayer S, et al. Among authors: fowler dm. Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17. Am J Hum Genet. 2021. PMID: 34793697 Free PMC article.
90 results