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Assessing predictions of the impact of variants on splicing in CAGI5.
Mount SM, Avsec Ž, Carmel L, Casadio R, Çelik MH, Chen K, Cheng J, Cohen NE, Fairbrother WG, Fenesh T, Gagneur J, Gotea V, Holzer T, Lin CF, Martelli PL, Naito T, Nguyen TYD, Savojardo C, Unger R, Wang R, Yang Y, Zhao H. Mount SM, et al. Among authors: fairbrother wg. Hum Mutat. 2019 Sep;40(9):1215-1224. doi: 10.1002/humu.23869. Epub 2019 Aug 19. Hum Mutat. 2019. PMID: 31301154 Free PMC article.
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG. Soemedi R, et al. Among authors: fairbrother wg. Nat Genet. 2017 Jun;49(6):848-855. doi: 10.1038/ng.3837. Epub 2017 Apr 17. Nat Genet. 2017. PMID: 28416821 Free PMC article.
Hotspot exons are common targets of splicing perturbations.
Glidden DT, Buerer JL, Saueressig CF, Fairbrother WG. Glidden DT, et al. Among authors: fairbrother wg. Nat Commun. 2021 May 12;12(1):2756. doi: 10.1038/s41467-021-22780-2. Nat Commun. 2021. PMID: 33980843 Free PMC article.
RNA-Binding Proteins: Splicing Factors and Disease.
Fredericks AM, Cygan KJ, Brown BA, Fairbrother WG. Fredericks AM, et al. Among authors: fairbrother wg. Biomolecules. 2015 May 13;5(2):893-909. doi: 10.3390/biom5020893. Biomolecules. 2015. PMID: 25985083 Free PMC article. Review.
RNA structure replaces the need for U2AF2 in splicing.
Lin CL, Taggart AJ, Lim KH, Cygan KJ, Ferraris L, Creton R, Huang YT, Fairbrother WG. Lin CL, et al. Among authors: fairbrother wg. Genome Res. 2016 Jan;26(1):12-23. doi: 10.1101/gr.181008.114. Epub 2015 Nov 13. Genome Res. 2016. PMID: 26566657 Free PMC article.
RNA structure in splicing: An evolutionary perspective.
Lin CL, Taggart AJ, Fairbrother WG. Lin CL, et al. Among authors: fairbrother wg. RNA Biol. 2016 Sep;13(9):766-71. doi: 10.1080/15476286.2016.1208893. Epub 2016 Jul 25. RNA Biol. 2016. PMID: 27454491 Free PMC article. Review.
56 results