Brooks AN, Choi PS, de Waal L, et al. A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. PLoS One. 2014;9(1):e87361. doi:10.1371/journal.pone.0087361
Saleheen D, Natarajan P, Armean IM, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017;544(7649):235-239. doi:10.1038/nature22034
Mercader JM, Liao RG, Bell AD, et al. A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes. Diabetes. 2017;66(11):2903-2914. doi:10.2337/db17-0187
Zhang S, Samocha KE, Rivas MA, et al. Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Res. 2018;28(7):968-974. doi:10.1101/gr.231902.117
Sandaradura SA, Bournazos A, Mallawaarachchi A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018;39(3):383-388. doi:10.1002/humu.23385
McGuire AM, Pearson MD, Neafsey DE, Galagan JE. Cross-kingdom patterns of alternative splicing and splice recognition. Genome Biol. 2008;9(3):R50. doi:10.1186/gb-2008-9-3-r50
Engreitz JM, Sirokman K, McDonel P, et al. RNA-RNA interactions enable specific targeting of noncoding RNAs to nascent Pre-mRNAs and chromatin sites. Cell. 2014;159(1):188-99. doi:10.1016/j.cell.2014.08.018
Irimia M, Roy SW, Neafsey DE, Abril JF, Garcia-Fernandez J, Koonin EV. Complex selection on 5’ splice sites in intron-rich organisms. Genome Res. 2009;19(11):2021-7. doi:10.1101/gr.089276.108