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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. Xiong HY, et al. Among authors: lee lj. Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18. Science. 2015. PMID: 25525159 Free PMC article.
The evolutionary landscape of alternative splicing in vertebrate species.
Barbosa-Morais NL, Irimia M, Pan Q, Xiong HY, Gueroussov S, Lee LJ, Slobodeniuc V, Kutter C, Watt S, Colak R, Kim T, Misquitta-Ali CM, Wilson MD, Kim PM, Odom DT, Frey BJ, Blencowe BJ. Barbosa-Morais NL, et al. Among authors: lee lj. Science. 2012 Dec 21;338(6114):1587-93. doi: 10.1126/science.1230612. Science. 2012. PMID: 23258890
Deep learning of the tissue-regulated splicing code.
Leung MK, Xiong HY, Lee LJ, Frey BJ. Leung MK, et al. Among authors: lee lj. Bioinformatics. 2014 Jun 15;30(12):i121-9. doi: 10.1093/bioinformatics/btu277. Bioinformatics. 2014. PMID: 24931975 Free PMC article.
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Among authors: lee lj. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.
Genome-wide analysis of alternative splicing in Caenorhabditis elegans.
Ramani AK, Calarco JA, Pan Q, Mavandadi S, Wang Y, Nelson AC, Lee LJ, Morris Q, Blencowe BJ, Zhen M, Fraser AG. Ramani AK, et al. Among authors: lee lj. Genome Res. 2011 Feb;21(2):342-8. doi: 10.1101/gr.114645.110. Epub 2010 Dec 22. Genome Res. 2011. PMID: 21177968 Free PMC article.
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