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Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D. Lord J, et al. Among authors: mount sm. Hum Genet. 2024 Jan 3. doi: 10.1007/s00439-023-02624-3. Online ahead of print. Hum Genet. 2024. PMID: 38170232 Free article.
Aberrant spliceosome activity via elevated intron retention and upregulation and phosphorylation of SF3B1 in chronic lymphocytic leukemia.
Kashyap MK, Karathia H, Kumar D, Vera Alvarez R, Forero-Forero JV, Moreno E, Lujan JV, Amaya-Chanaga CI, Vidal NM, Yu Z, Ghia EM, Lengerke-Diaz PA, Achinko D, Choi MY, Rassenti LZ, Mariño-Ramírez L, Mount SM, Hannenhalli S, Kipps TJ, Castro JE. Kashyap MK, et al. Among authors: mount sm. Mol Ther Nucleic Acids. 2024 Apr 26;35(2):102202. doi: 10.1016/j.omtn.2024.102202. eCollection 2024 Jun 11. Mol Ther Nucleic Acids. 2024. PMID: 38846999 Free PMC article.
71 results