SM-Youtube

Year	Number of Results
1987	1
2000	41
2001	116
2002	74
2003	84
2004	102
2005	114
2006	108
2007	116
2008	110
2009	114
2010	131
2011	106
2012	102
2013	94
2014	94
2015	92
2016	99
2017	86
2018	96
2019	80
2020	66
2021	63
2022	36
2023	23
2024	53
2025	2

1

CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs.

Anderson R, Das MR, Chang Y, Farenhem K, Schmitz CO, Jain A. Anderson R, et al. Mol Cell. 2024 Feb 15;84(4):702-714.e10. doi: 10.1016/j.molcel.2024.01.006. Epub 2024 Jan 30. Mol Cell. 2024. PMID: 38295802

2

Splicing mutations in inherited retinal diseases.

Weisschuh N, Buena-Atienza E, Wissinger B. Weisschuh N, et al. Prog Retin Eye Res. 2021 Jan;80:100874. doi: 10.1016/j.preteyeres.2020.100874. Epub 2020 Jun 15. Prog Retin Eye Res. 2021. PMID: 32553897 Review.

3

A deep catalogue of protein-coding variation in 983,578 individuals.

Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.

4

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Mesman RLS, Calléja FMGR, de la Hoya M, Devilee P, van Asperen CJ, Vrieling H, Vreeswijk MPG. Mesman RLS, et al. Genet Med. 2020 Aug;22(8):1355-1365. doi: 10.1038/s41436-020-0814-5. Epub 2020 May 13. Genet Med. 2020. PMID: 32398771 Free PMC article.

5

MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.

Palmisano A, Vural S, Zhao Y, Sonkin D. Palmisano A, et al. Hum Mutat. 2021 Apr;42(4):342-345. doi: 10.1002/humu.24185. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600011 Free PMC article.

6

Searching for splicing motifs.

Chasin LA. Chasin LA. Adv Exp Med Biol. 2007;623:85-106. doi: 10.1007/978-0-387-77374-2_6. Adv Exp Med Biol. 2007. PMID: 18380342 Review.

7

Genome-wide analyses supported by RNA-Seq reveal non-canonical splice sites in plant genomes.

Pucker B, Brockington SF. Pucker B, et al. BMC Genomics. 2018 Dec 29;19(1):980. doi: 10.1186/s12864-018-5360-z. BMC Genomics. 2018. PMID: 30594132 Free PMC article.

8

Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

Bouras A, Lefol C, Ruano E, Grand-Masson C, Auclair-Perrossier J, Wang Q. Bouras A, et al. Hum Mol Genet. 2024 May 4;33(10):850-859. doi: 10.1093/hmg/ddae016. Hum Mol Genet. 2024. PMID: 38311346

9

JEDI: circular RNA prediction based on junction encoders and deep interaction among splice sites.

Jiang JY, Ju CJ, Hao J, Chen M, Wang W. Jiang JY, et al. Bioinformatics. 2021 Jul 12;37(Suppl_1):i289-i298. doi: 10.1093/bioinformatics/btab288. Bioinformatics. 2021. PMID: 34252942 Free PMC article.

10

How did alternative splicing evolve?

Ast G. Ast G. Nat Rev Genet. 2004 Oct;5(10):773-82. doi: 10.1038/nrg1451. Nat Rev Genet. 2004. PMID: 15510168 Review.

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