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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2002 1
2004 2
2005 1
2008 2
2009 2
2010 2
2011 4
2012 3
2013 1
2014 1
2015 2
2016 4
2017 6
2018 4
2019 4
2020 2
2021 2
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42 results
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Page 1
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL. Zhang SY, et al. Among authors: fairbrother wg. Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019. Cell. 2018. PMID: 29474921 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.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: fairbrother wg. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Intronic RNA: Ad'junk' mediator of post-transcriptional gene regulation.
Neil CR, Fairbrother WG. Neil CR, et al. Among authors: fairbrother wg. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194439. doi: 10.1016/j.bbagrm.2019.194439. Epub 2019 Nov 1. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31682938 Free PMC article. Review.
The effects of structure on pre-mRNA processing and stability.
Soemedi R, Cygan KJ, Rhine CL, Glidden DT, Taggart AJ, Lin CL, Fredericks AM, Fairbrother WG. Soemedi R, et al. Among authors: fairbrother wg. Methods. 2017 Aug 1;125:36-44. doi: 10.1016/j.ymeth.2017.06.001. Epub 2017 Jun 6. Methods. 2017. PMID: 28595983 Free PMC article. Review.
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.
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