Christofk HR, Heiden MGV, Harris MH, et al. The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth. Nature. 2008;452(7184):230-3. doi:10.1038/nature06734
Cabili MN, Trapnell C, Goff L, et al. Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses. Genes Dev. 2011;25(18):1915-27. doi:10.1101/gad.17446611
Fekete E, Flipphi M, Ág N, et al. A mechanism for a single nucleotide intron shift. Nucleic Acids Res. 2017;45(15):9085-9092. doi:10.1093/nar/gkx520
Naryshkin NA, Weetall M, Dakka A, et al. Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science. 2014;345(6197):688-93. doi:10.1126/science.1250127
Li J, Choi PS, Chaffer CL, et al. An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer. Elife. 2018;7. doi:10.7554/eLife.37184
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
Aneichyk T, Hendriks WT, Yadav R, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018;172(5):897-909.e21. doi:10.1016/j.cell.2018.02.011
Cesana M, Guo MH, Cacchiarelli D, et al. A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development. Cell Stem Cell. 2018;22(4):575-588.e7. doi:10.1016/j.stem.2018.03.012
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
Talkowski ME, Maussion G, Crapper L, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012;91(6):1128-34. doi:10.1016/j.ajhg.2012.10.016