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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.
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.
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.
A statistical framework for analyzing deep mutational scanning data.
Rubin AF, Gelman H, Lucas N, Bajjalieh SM, Papenfuss AT, Speed TP, Fowler DM. Rubin AF, et al. Among authors: fowler dm. Genome Biol. 2017 Aug 7;18(1):150. doi: 10.1186/s13059-017-1272-5. Genome Biol. 2017. PMID: 28784151 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.
A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent Functions.
Ahler E, Register AC, Chakraborty S, Fang L, Dieter EM, Sitko KA, Vidadala RSR, Trevillian BM, Golkowski M, Gelman H, Stephany JJ, Rubin AF, Merritt EA, Fowler DM, Maly DJ. Ahler E, et al. Among authors: fowler dm. Mol Cell. 2019 Apr 18;74(2):393-408.e20. doi: 10.1016/j.molcel.2019.02.003. Epub 2019 Apr 4. Mol Cell. 2019. PMID: 30956043 Free PMC article.
100 results