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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: blencowe bj. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Deciphering the splicing code.
Barash Y, Calarco JA, Gao W, Pan Q, Wang X, Shai O, Blencowe BJ, Frey BJ. Barash Y, et al. Among authors: blencowe bj. Nature. 2010 May 6;465(7294):53-9. doi: 10.1038/nature09000. Nature. 2010. PMID: 20445623
Dynamic integration of splicing within gene regulatory pathways.
Braunschweig U, Gueroussov S, Plocik AM, Graveley BR, Blencowe BJ. Braunschweig U, et al. Among authors: blencowe bj. Cell. 2013 Mar 14;152(6):1252-69. doi: 10.1016/j.cell.2013.02.034. Cell. 2013. PMID: 23498935 Free PMC article. Review.
MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.
Han H, Irimia M, Ross PJ, Sung HK, Alipanahi B, David L, Golipour A, Gabut M, Michael IP, Nachman EN, Wang E, Trcka D, Thompson T, O'Hanlon D, Slobodeniuc V, Barbosa-Morais NL, Burge CB, Moffat J, Frey BJ, Nagy A, Ellis J, Wrana JL, Blencowe BJ. Han H, et al. Among authors: blencowe bj. Nature. 2013 Jun 13;498(7453):241-5. doi: 10.1038/nature12270. Epub 2013 Jun 5. Nature. 2013. PMID: 23739326 Free PMC article.
A compendium of RNA-binding motifs for decoding gene regulation.
Ray D, Kazan H, Cook KB, Weirauch MT, Najafabadi HS, Li X, Gueroussov S, Albu M, Zheng H, Yang A, Na H, Irimia M, Matzat LH, Dale RK, Smith SA, Yarosh CA, Kelly SM, Nabet B, Mecenas D, Li W, Laishram RS, Qiao M, Lipshitz HD, Piano F, Corbett AH, Carstens RP, Frey BJ, Anderson RA, Lynch KW, Penalva LO, Lei EP, Fraser AG, Blencowe BJ, Morris QD, Hughes TR. Ray D, et al. Among authors: blencowe bj. Nature. 2013 Jul 11;499(7457):172-7. doi: 10.1038/nature12311. Nature. 2013. PMID: 23846655 Free PMC article.
Widespread intron retention in mammals functionally tunes transcriptomes.
Braunschweig U, Barbosa-Morais NL, Pan Q, Nachman EN, Alipanahi B, Gonatopoulos-Pournatzis T, Frey B, Irimia M, Blencowe BJ. Braunschweig U, et al. Among authors: blencowe bj. Genome Res. 2014 Nov;24(11):1774-86. doi: 10.1101/gr.177790.114. Epub 2014 Sep 25. Genome Res. 2014. PMID: 25258385 Free PMC article.
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: blencowe bj. Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18. Science. 2015. PMID: 25525159 Free PMC article.
183 results