Function of alternative splicing

AUGUSTUS: ab initio prediction of alternative transcripts

Stanke, M., Keller, O., Gunduz, I., Hayes, A., Waack, S., & Morgenstern, B. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl200 · Cited by 2,829

The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth

Christofk, H. R., Vander Heiden, M. G., Harris, M. H., Ramanathan, A., Gerszten, R. E., Wei, R., Fleming, M. D., Schreiber, S. L., & Cantley, L. C. (2008) · Nature · doi:10.1038/nature06734 · Cited by 2,820

The Spliceosome: Design Principles of a Dynamic RNP Machine

Wahl, M. C., Will, C. L., & Lührmann, R. (2009) · Cell · doi:10.1016/j.cell.2009.02.009 · Cited by 2,665

The Nuclear-Retained Noncoding RNA MALAT1 Regulates Alternative Splicing by Modulating SR Splicing Factor Phosphorylation

Tripathi, V., Ellis, J. D., Shen, Z., Song, D. Y., Pan, Q., Watt, A. T., Freier, S. M., Bennett, C. F., Sharma, A., Bubulya, P. A., et al. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.08.011 · Cited by 2,291

Spliced segments at the 5′ terminus of adenovirus 2 late mRNA

Berget, S. M., Moore, C. L., & Sharp, P. A. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.8.3171 · Cited by 1,483

Function of alternative splicing

Stamm, S., Ben‐Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D., Thanaraj, T. A., & Soreq, H. (2004) · Gene · doi:10.1016/j.gene.2004.10.022 · Cited by 1,398

The MicroRNA miR-124 Promotes Neuronal Differentiation by Triggering Brain-Specific Alternative Pre-mRNA Splicing

Makeyev, E. V., Zhang, J., Carrasco, M. A., & Maniatis, T. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.07.015 · Cited by 1,395

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

Licatalosi, D. D., Mele, A., Fak, J. J., Ule, J., Kayikci, M., Chi, S. W., Clark, T. A., Schweitzer, A. C., Blume, J. E., Wang, X., et al. (2008) · Nature · doi:10.1038/nature07488 · Cited by 1,352

Gene prediction in eukaryotes with a generalized hidden Markov model that uses hints from external sources

Stanke, M., Schöffmann, O., Morgenstern, B., & Waack, S. (2006) · BMC Bioinformatics · doi:10.1186/1471-2105-7-62 · Cited by 1,304

Understanding alternative splicing: towards a cellular code

Matlin, A. J., Clark, F., & Smith, C. W. J. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1645 · Cited by 1,299

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

Lee, Y., & Rio, D. C. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034316 · Cited by 1,291

Gene co-expression analysis for functional classification and gene–disease predictions

van Dam, S., Võsa, U., van der Graaf, A., Franke, L., & de Magalhães, J. P. (2017) · Briefings in Bioinformatics · doi:10.1093/bib/bbw139 · Cited by 995

Molecular mechanisms of ROS production and oxidative stress in diabetes

Newsholme, P., Cruzat, V. F., Keane, K. N., Carlessi, R., & de Bittencourt, P. I. H. (2016) · Biochemical Journal · doi:10.1042/bcj20160503c · Cited by 878

Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution

Ule, J., & Blencowe, B. J. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.09.017 · Cited by 780

Introducing Protein Intrinsic Disorder

Habchi, J., Tompa, P., Longhi, S., & Uversky, V. N. (2014) · Chemical Reviews · doi:10.1021/cr400514h · Cited by 767

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing

Yang, X., Coulombe-Huntington, J., Kang, S., Sheynkman, G. M., Hao, T., Richardson, A., Sun, S., Yang, F., Shen, Y. A., Murray, R. R., et al. (2016) · Cell · doi:10.1016/j.cell.2016.01.029 · Cited by 583

Mechanism of alternative splicing and its regulation

Wang, Y., LIU, J., Huang, B., XU, Y.-M., LI, J., Huang, L., Jin, L., Zhang, J., Min, Q., Yang, W., et al. (2014) · Biomedical Reports · doi:10.3892/br.2014.407 · Cited by 520

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

Sveen, A., Kilpinen, S. K., Ruusulehto, A., Lothe, R. A., & Skotheim, R. I. (2015) · Oncogene · doi:10.1038/onc.2015.318 · Cited by 482

Alternative splicing as a source of phenotypic diversity

Wright, C. J., Smith, C. W. J., & Jiggins, C. D. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00514-4 · Cited by 454

The Expanding Landscape of Alternative Splicing Variation in Human Populations

Park, E., Pan, Z., Zhang, Z., Lin, L., & Xing, Y. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.11.002 · Cited by 385

Alternative Splicing May Not Be the Key to Proteome Complexity

Tress, M. L., Abascal, F., & Valencia, A. (2016) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2016.08.008 · Cited by 341

Misregulation of Pre-mRNA Alternative Splicing in Cancer

Zhang, J., & Manley, J. L. (2013) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0253 · Cited by 316

Proteomic and interactomic insights into the molecular basis of cell functional diversity

Bludau, I., & Aebersold, R. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0231-2 · Cited by 297

A high quality Arabidopsis transcriptome for accurate transcript-level analysis of alternative splicing

Zhang, R., Calixto, C. P. G., Márquez, Y., Venhuizen, P., Τzioutziou, N. A., Guo, W., Spensley, M., Entizne, J. C., Lewandowska, D., ten Have, S., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx267 · Cited by 290

Alternative start and termination sites of transcription drive most transcript isoform differences across human tissues

Reyes, A., & Huber, W. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1165 · Cited by 290

Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

Rogalska, M. E., Vivori, C., & Valcárcel, J. (2022) · Nature Reviews Genetics · doi:10.1038/s41576-022-00556-8 · Cited by 284

The Spliceosome: The Ultimate RNA Chaperone and Sculptor

Papasaikas, P., & Valcárcel, J. (2015) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2015.11.003 · Cited by 263

Defective control of pre–messenger RNA splicing in human disease

Chabot, B., & Shkreta, L. (2016) · The Journal of Cell Biology · doi:10.1083/jcb.201510032 · Cited by 220

Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genesPreprint

Lykke‐Andersen, S., Chen, Y., Ardal, B. K., Lilje, B., Waage, J., Sandelin, A., & Jensen, T. H. (2014) · Genes & Development · doi:10.1101/gad.246538.114 · Cited by 200

Alternative splicing landscapes in Arabidopsis thaliana across tissues and stress conditions highlight major functional differences with animals

Martín, G., Márquez, Y., Mantica, F., Duque, P., & Irimia, M. (2021) · Genome biology · doi:10.1186/s13059-020-02258-y · Cited by 217

Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing

Falaleeva, M., Pagès, A., Matuszek, Ż., Hidmi, S., Agranat-Tamir, L., Korotkov, K. V., Nevo, Y., Eyras, E., Sperling, R., & Stamm, S. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1519292113 · Cited by 229

RNA-binding proteins control gene expression and cell fate in the immune system

Turner, M., & Díaz-Muñoz, M. D. (2018) · Nature Immunology · doi:10.1038/s41590-017-0028-4 · Cited by 209

Alternative Splicing and Protein Diversity: Plants Versus Animals

Chaudhary, S., Khokhar, W., Jabre, I., Reddy, A. S. N., Byrne, L. J., Wilson, C. M., & Syed, N. H. (2019) · Frontiers in Plant Science · doi:10.3389/fpls.2019.00708 · Cited by 209

SubCellBarCode: Proteome-wide Mapping of Protein Localization and Relocalization

Orre, L. M., Vesterlund, M., Pan, Y., Arslan, T., Zhu, Y., Fernandez-Woodbridge, A., Frings, O., Fredlund, E., & Lehtiö, J. (2019) · Molecular Cell · doi:10.1016/j.molcel.2018.11.035 · Cited by 201

Alternative splicing and the evolution of phenotypic novelty

Bush, S. J., Chen, L., Tovar-Corona, J. M., & Urrutia, A. O. (2016) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2015.0474 · Cited by 200

The emerging role of alternative splicing in senescence and aging

Deschênes, M., & Chabot, B. (2017) · Aging Cell · doi:10.1111/acel.12646 · Cited by 172

Unmasking alternative splicing inside protein-coding exons defines exitrons and their role in proteome plasticityPreprint

Márquez, Y., Höpfler, M., Ayatollahi, Z., Barta, A., & Kalyna, M. (2015) · Genome Research · doi:10.1101/gr.186585.114 · Cited by 172

Targeting RNA splicing for disease therapy

Havens, M. A., Duelli, D. M., & Hastings, M. L. (2013) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1158 · Cited by 173

The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development

Bebee, T. W., Park, J. W., Sheridan, K. I., Warzecha, C. C., Cieply, B. W., Rohacek, A. M., Xing, Y., & Carstens, R. P. (2015) · eLife · doi:10.7554/elife.08954 · Cited by 161

Goldfish spexin: solution structure and novel function as a satiety factor in feeding control

Wong, M. K. H., Sze, K. H., Chen, T., Cho, C. K., Law, H. C.-H., Chu, I. K., & Wong, A. (2013) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00141.2013 · Cited by 157

Global changes of the RNA-bound proteome during the maternal-to-zygotic transition in Drosophila

Sysoev, V. O., Fischer, B., Frese, C. K., Gupta, I., Krijgsveld, J., Hentze, M. W., Castelló, A., & Ephrussi, A. (2016) · Nature Communications · doi:10.1038/ncomms12128 · Cited by 146

The RNA Splicing Response to DNA Damage

Shkreta, L., & Chabot, B. (2015) · Biomolecules · doi:10.3390/biom5042935 · Cited by 156

Emerging pathways to neurodegeneration: Dissecting the critical molecular mechanisms in Alzheimer’s disease, Parkinson’s disease

Tan, S. H., Karri, V., Tay, N. W. R., Chang, K. H., Ah, H. Y., Ng, P. Q., Ho, H. S., Keh, H. W., & Candasamy, M. (2019) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2018.12.101 · Cited by 151

Functional roles of alternative splicing factors in human disease

Cieply, B. W., & Carstens, R. P. (2015) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1276 · Cited by 148

Isoform prefiltering improves performance of count-based methods for analysis of differential transcript usage

Soneson, C., Matthes, K. L., Nowicka, M., Law, C. W., & Robinson, M. D. (2016) · Genome biology · doi:10.1186/s13059-015-0862-3 · Cited by 135

The importance of alternative splicing in adaptive evolution

Singh, P., & Ahi, E. P. (2022) · Molecular Ecology · doi:10.1111/mec.16377 · Cited by 141

Drift and conservation of differential exon usage across tissues in primate species

Reyes, A., Anders, S., Weatheritt, R. J., Gibson, T. J., Steinmetz, L. M., & Huber, W. K. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1307202110 · Cited by 141

Alternative splicing: the pledge, the turn, and the prestige

Gallego-Paez, L. M., Bordone, M. C., Leote, A. C., Saraiva-Agostinho, N., Ascensão-Ferreira, M., & Barbosa‐Morais, N. L. (2017) · Human Genetics · doi:10.1007/s00439-017-1790-y · Cited by 143

Hypoxia-induced alternative splicing: the 11th Hallmark of Cancer

Farina, A. R., Cappabianca, L. A., Sebastiano, M., Zelli, V., Guadagni, S., & Mackay, A. R. (2020) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-020-01616-9 · Cited by 136

FFPred 3: feature-based function prediction for all Gene Ontology domains

Cozzetto, D., Minneci, F., Currant, H., & Jones, D. T. (2016) · Scientific Reports · doi:10.1038/srep31865 · Cited by 127

DYRK1A inhibitors for disease therapy: Current status and perspectives

Liu, T., Wang, Y., Wang, J., Ren, C., Chen, H., & Zhang, J. (2021) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2021.114062 · Cited by 126

The state of play in higher eukaryote gene annotation

Mudge, J. M., & Harrow, J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.119 · Cited by 132

Genetic Control of Gonadal Sex Determination and Development.

Stévant, I., & Nef, S. (2019) · Trends in Genetics · doi:10.1016/j.tig.2019.02.004 · Cited by 85

RNA-guided transcriptional activation via CRISPR/dCas9 mimics overexpression phenotypes in Arabidopsis

Park, J., Dempewolf, E., Zhang, W., & Wang, Z. (2017) · PLoS ONE · doi:10.1371/journal.pone.0179410 · Cited by 116

Origin of exon skipping-rich transcriptomes in animals driven by evolution of gene architecture

Grau‐Bové, X., Ruiz‐Trillo, I., & Irimia, M. (2018) · Genome biology · doi:10.1186/s13059-018-1499-9 · Cited by 112

Genome-Wide Detection of Condition-Sensitive Alternative Splicing in Arabidopsis Roots

Li, W., Lin, W., Ray, P., Lan, P., & Schmidt, W. (2013) · PLANT PHYSIOLOGY · doi:10.1104/pp.113.217778 · Cited by 112

RNA Quality Control as a Key to Suppressing RNA Silencing of Endogenous Genes in Plants

Liu, L., & Chen, X. (2016) · Molecular Plant · doi:10.1016/j.molp.2016.03.011 · Cited by 109

Genes with a large intronic burden show greater evolutionary conservation on the protein level

Gorlova, O. Y., Fedorov, A. N., Logothetis, C. J., Amos, C. I., & Gorlov, I. P. (2014) · BMC Evolutionary Biology · doi:10.1186/1471-2148-14-50 · Cited by 106

RNA splicing in human disease and in the clinic

Baralle, D., & Buratti, E. (2017) · Clinical Science · doi:10.1042/cs20160211 · Cited by 107

The fitness cost of mis-splicing is the main determinant of alternative splicing patterns

Saudemont, B., Popa, A., Parmley, J. L., Rocher, V., Blugeon, C., Necşulea, A., Meyer, É., & Duret, L. (2017) · Genome biology · doi:10.1186/s13059-017-1344-6 · Cited by 99

QKI is a critical pre-mRNA alternative splicing regulator of cardiac myofibrillogenesis and contractile function

Chen, X., Liu, Y. M., Xu, C., Ba, L., Liu, Z., Li, X., Huang, J., Simpson, E. R., Gao, H., Cao, D., et al. (2021) · Nature Communications · doi:10.1038/s41467-020-20327-5 · Cited by 106

Differential alternative splicing coupled to nonsense-mediated decay of mRNA ensures dietary restriction-induced longevity

Tabrez, S. S., Sharma, R. D., Jain, V., Siddiqui, A. A., & Mukhopadhyay, A. (2017) · Nature Communications · doi:10.1038/s41467-017-00370-5 · Cited by 96

SRSF3-Regulated RNA Alternative Splicing Promotes Glioblastoma Tumorigenicity by Affecting Multiple Cellular Processes

Song, X., Wan, X., Huang, T., Zeng, C., Sastry, N. G., Wu, B., James, C. D., Horbinski, C., Nakano, I., Zhang, W., et al. (2019) · Cancer Research · doi:10.1158/0008-5472.can-19-1504 · Cited by 96

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

Li, D., McIntosh, C. S., Mastaglia, F. L., Wilton, S. D., & Aung-Htut, M. T. (2021) · Translational Neurodegeneration · doi:10.1186/s40035-021-00240-7 · Cited by 98

An integrated transcriptional analysis of the developing human retina

Mellough, C., Bauer, R., Collin, J., Dorgau, B., Zerti, D., Dolan, D., Jones, C. M., Izuogu, O. G., Yu, M., Hallam, D., et al. (2019) · Development · doi:10.1242/dev.169474 · Cited by 97

Autophagic degradation of the inhibitory p53 isoform Δ133p53α as a regulatory mechanism for p53-mediated senescence

Horikawa, I., Fujita, K., Jenkins, L. M. M., Hiyoshi, Y., Mondal, A. M., Vojtěšek, B., Lane, D. P., Appella, E., & Harris, C. C. (2014) · Nature Communications · doi:10.1038/ncomms5706 · Cited by 100

Alternative Splicing of G9a Regulates Neuronal Differentiation

Fiszbein, A., Giono, L. E., Quaglino, A., Berardino, B. G., Sigaut, L., von Bilderling, C., Schor, I. E., Steinberg, J. H. E., Rossi, M., Pietrasanta, L. I., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.02.063 · Cited by 88

Nonsense-mediated RNA decay and its bipolar function in cancer

Nogueira, G., Fernandes, R. O., García-Moreno, J. F., & Romão, L. (2021) · Molecular Cancer · doi:10.1186/s12943-021-01364-0 · Cited by 93

Systematic detection of functional proteoform groups from bottom-up proteomic datasets

Bludau, I., Frank, M., Dörig, C., Cai, Y., Heusel, M., Rosenberger, G., Picotti, P., Collins, B. C., Röst, H., & Aebersold, R. (2021) · Nature Communications · doi:10.1038/s41467-021-24030-x · Cited by 88

Whole-transcriptome analysis of atrophic ovaries in broody chickens reveals regulatory pathways associated with proliferation and apoptosis

Liu, L., Xiao, Q., Gilbert, E. R., Cui, Z., Zhao, X., Wang, Y., Yin, H., Li, D., Zhang, H., & Zhu, Q. C. (2018) · Scientific Reports · doi:10.1038/s41598-018-25103-6 · Cited by 88

Enhanced protein isoform characterization through long-read proteogenomics

Miller, R., Jordan, B. T., Mehlferber, M., Jeffery, E. D., Chatzipantsiou, C., Kaur, S., Millikin, R. J., Dai, Y., Tiberi, S., Castaldi, P. J., et al. (2022) · Genome biology · doi:10.1186/s13059-022-02624-y · Cited by 95

An analysis of tissue-specific alternative splicing at the protein level

Rodríguez, J. M., Pozo, F., Domenico, T. D., Vázquez, J., & Tress, M. L. (2020) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1008287 · Cited by 90

The Function of Pre-mRNA Alternative Splicing in Mammal Spermatogenesis

Song, H., Wang, L., Chen, D., & Li, F. (2019) · International Journal of Biological Sciences · doi:10.7150/ijbs.34422 · Cited by 86

Differential splicing across immune system lineages

Ergün, A., Doran, G., Costello, J. C., Paik, H. H.-I., Collins, J. J., Mathis, D. J., Benoist, C. O., Blair, D. A., Dustin, M. L., Shinton, S. A., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311839110 · Cited by 83

Comparative transcriptome analysis reveals important roles of nonadditive genes in maize hybrid An’nong 591 under heat stress

Zhao, Y., Hu, F., Zhang, X., Wei, Q., Dong, J., Bo, C., Cheng, B., & Ma, Q. (2019) · BMC Plant Biology · doi:10.1186/s12870-019-1878-8 · Cited by 83

Splicing factor SF3B1 is overexpressed and implicated in the aggressiveness and survival of hepatocellular carcinoma

Lopez-Canovas, J. L., del Río-Moreno, M., García-Fernández, H., Jiménez‐Vacas, J. M., Moreno-Montilla, M. T., Sánchez‐Frías, M., Amado, V., L‐López, F., Fondevila, M. F., Ciria, R., et al. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.10.010 · Cited by 81

The Central Role of Noncoding RNA in the Brain

Guennewig, B., & Cooper, A. A. (2014) · International review of neurobiology · doi:10.1016/b978-0-12-801105-8.00007-2 · Cited by 81

NOVA2 regulates neural circRNA biogenesis

Knupp, D., Cooper, D. A., Saito, Y., Darnell, R. B., & Miura, P. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab523 · Cited by 76

Endothelial, epithelial, and fibroblast cells exhibit specific splicing programs independently of their tissue of originPreprint

Mallinjoud, P., Villemin, J.-P., Mortada, H., Espinoza, M. P., Desmet, F.-O., Samaan, S., Chautard, É., Tranchevent, L.-C., & Auboeuf, D. (2013) · Genome Research · doi:10.1101/gr.162933.113 · Cited by 86

Heat stress induced alternative splicing in catfish as determined by transcriptome analysis

Tan, S., Wang, W., Tian, C., Niu, D., Zhou, T., Jin, Y., Yang, Y., Gao, D., Dunham, R. A., & Liu, Z. (2018) · Comparative Biochemistry and Physiology Part D Genomics and Proteomics · doi:10.1016/j.cbd.2018.11.008 · Cited by 78

CLASS2: accurate and efficient splice variant annotation from RNA-seq reads

Li, S., Sabunciyan, S., & Florea, L. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw158 · Cited by 72

Extensive RNA editing and splicing increase immune self-representation diversity in medullary thymic epithelial cells

Danan-Gotthold, M., Guyon, C., Giraud, M., Levanon, E. Y., & Abramson, J. (2016) · Genome biology · doi:10.1186/s13059-016-1079-9 · Cited by 80

Reciprocal cross-regulation of VND and SND multigene TF families for wood formation in Populus trichocarpa

Lin, Y. J., Chen, H., Li, Q., Li, W., Wang, J. P., Shi, R., Tunlaya‐Anukit, S., Shuai, P., Wang, Z., Ma, H., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1714422114 · Cited by 76

Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq

Heberle, B. A., Brandon, J. A., Page, M. L., Nations, K. A., Dikobe, K. I., White, B. J., Gordon, L. A., Fox, G. A., Wadsworth, M. E., Doyle, P. H., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-024-02245-9 · Cited by 73

The methyltransferase SETD2 couples transcription and splicing by engaging mRNA processing factors through its SHI domain

Bhattacharya, S., Levy, M. J., Zhang, N., Li, H., Florens, L. A., Washburn, M. P., & Workman, J. L. (2021) · Nature Communications · doi:10.1038/s41467-021-21663-w · Cited by 77

GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia

Shade, L. M. P., Katsumata, Y., Abner, E. L., Aung, K. Z., Claas, S. A., Qiao, Q., Heberle, B. A., Brandon, J. A., Page, M. L., Hohman, T. J., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01939-9 · Cited by 72

RNA binding proteins in the regulation of heart development

Blech-Hermoni, Y. N., & Ladd, A. N. (2013) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2013.08.008 · Cited by 72

The cellular landscape of mid‐size noncoding RNA

Boivin, V., Faucher‐Giguère, L., Scott, M. S., & Elela, S. A. (2019) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1530 · Cited by 70

tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing

de la Fuente, L., Arzalluz-Luque, Á., Tardáguila, M., del Risco, H., Martí, C., Tarazona, S., Salguero, P., Scott, R., Lerma-Aguilera, A., Alastrue‐Agudo, A., et al. (2020) · Genome biology · doi:10.1186/s13059-020-02028-w · Cited by 66

Combined single-cell profiling of expression and DNA methylation reveals splicing regulation and heterogeneity

Linker, S. M., Urban, L., Clark, S. J., Chhatriwala, M., Amatya, S., McCarthy, D. J., Ebersberger, I., Vallier, L., Reik, W., Stegle, O., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1644-0 · Cited by 71

Involvement of PARP1 in the regulation of alternative splicing

Matveeva, E. A., Maiorano, J. N., Zhang, Q., Eteleeb, A. M., Convertini, P., Chen, J., Infantino, V., Stamm, S., Wang, J., Rouchka, E. C., et al. (2016) · Cell Discovery · doi:10.1038/celldisc.2015.46 · Cited by 71

A survey of software for genome-wide discovery of differential splicing in RNA-Seq data

Hooper, J. E. (2014) · Human Genomics · doi:10.1186/1479-7364-8-3 · Cited by 67

The Ddx5 and Ddx17 RNA helicases are cornerstones in the complex regulatory array of steroid hormone-signaling pathways

Samaan, S., Tranchevent, L.-C., Dardenne, É., Espinoza, M. P., Zonta, E., Germann, S., Gratadou, L., Dutertre, M., & Auboeuf, D. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1216 · Cited by 67

Pan-cancer analysis of clinical relevance of alternative splicing events in 31 human cancers

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Identification of protein features encoded by alternative exons using Exon OntologyPreprint

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