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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. Bioinformatics. 2024 Mar 29;40(4):btae182. doi: 10.1093/bioinformatics/btae182. Bioinformatics. 2024. PMID: 38569896 Free PMC article.
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
Grønbæk-Thygesen M, Voutsinos V, Johansson KE, Schulze TK, Cagiada M, Pedersen L, Clausen L, Nariya S, Powell RL, Stein A, Fowler DM, Lindorff-Larsen K, Hartmann-Petersen R. Grønbæk-Thygesen M, et al. Among authors: fowler dm. Nat Commun. 2024 May 13;15(1):4026. doi: 10.1038/s41467-024-48481-0. Nat Commun. 2024. PMID: 38740822 Free PMC article.
Defining and Reducing Variant Classification Disparities.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: fowler dm. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
A mutational atlas for Parkin proteostasis.
Clausen L, Voutsinos V, Cagiada M, Johansson KE, Grønbæk-Thygesen M, Nariya S, Powell RL, Have MKN, Oestergaard VH, Stein A, Fowler DM, Lindorff-Larsen K, Hartmann-Petersen R. Clausen L, et al. Among authors: fowler dm. Nat Commun. 2024 Feb 20;15(1):1541. doi: 10.1038/s41467-024-45829-4. Nat Commun. 2024. PMID: 38378758 Free PMC article.
Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes.
Friedman CE, Fayer S, Pendyala S, Chien WM, Loiben A, Tran L, Chao LS, McKinstry A, Ahmed D, Farris SD, Stempien-Otero A, Jonlin EC, Murry CE, Starita LM, Fowler DM, Yang KC. Friedman CE, et al. Among authors: fowler dm. Circ Genom Precis Med. 2024 Apr;17(2):e004377. doi: 10.1161/CIRCGEN.123.004377. Epub 2024 Feb 16. Circ Genom Precis Med. 2024. PMID: 38362799
88 results