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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Zhang X, et al. Among authors: zon li. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20. Am J Hum Genet. 2014. PMID: 24656866 Free PMC article.
The dystrophin associated protein complex in zebrafish.
Guyon JR, Mosley AN, Zhou Y, O'Brien KF, Sheng X, Chiang K, Davidson AJ, Volinski JM, Zon LI, Kunkel LM. Guyon JR, et al. Among authors: zon li. Hum Mol Genet. 2003 Mar 15;12(6):601-15. Hum Mol Genet. 2003. PMID: 12620966
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH. Gupta V, et al. Among authors: zon li. Hum Mol Genet. 2011 May 1;20(9):1712-25. doi: 10.1093/hmg/ddr047. Epub 2011 Feb 4. Hum Mol Genet. 2011. PMID: 21296866 Free PMC article.
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. Mochida GH, et al. Among authors: zon li. Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023333 Free PMC article.
Small molecule screening in zebrafish: swimming in potential drug therapies.
Tamplin OJ, White RM, Jing L, Kaufman CK, Lacadie SA, Li P, Taylor AM, Zon LI. Tamplin OJ, et al. Among authors: zon li, li p. Wiley Interdiscip Rev Dev Biol. 2012 May-Jun;1(3):459-68. doi: 10.1002/wdev.37. Epub 2012 Feb 28. Wiley Interdiscip Rev Dev Biol. 2012. PMID: 23801494 Free PMC article. Review.
Assaying hematopoiesis using zebrafish.
Boatman S, Barrett F, Satishchandran S, Jing L, Shestopalov I, Zon LI. Boatman S, et al. Among authors: zon li. Blood Cells Mol Dis. 2013 Dec;51(4):271-6. doi: 10.1016/j.bcmd.2013.07.009. Epub 2013 Aug 2. Blood Cells Mol Dis. 2013. PMID: 23916372 Free PMC article. Review.
Selective microRNA uridylation by Zcchc6 (TUT7) and Zcchc11 (TUT4).
Thornton JE, Du P, Jing L, Sjekloca L, Lin S, Grossi E, Sliz P, Zon LI, Gregory RI. Thornton JE, et al. Among authors: zon li. Nucleic Acids Res. 2014 Oct;42(18):11777-91. doi: 10.1093/nar/gku805. Epub 2014 Sep 15. Nucleic Acids Res. 2014. PMID: 25223788 Free PMC article.
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
van Rooij FJA, Qayyum R, Smith AV, Zhou Y, Trompet S, Tanaka T, Keller MF, Chang LC, Schmidt H, Yang ML, Chen MH, Hayes J, Johnson AD, Yanek LR, Mueller C, Lange L, Floyd JS, Ghanbari M, Zonderman AB, Jukema JW, Hofman A, van Duijn CM, Desch KC, Saba Y, Ozel AB, Snively BM, Wu JY, Schmidt R, Fornage M, Klein RJ, Fox CS, Matsuda K, Kamatani N, Wild PS, Stott DJ, Ford I, Slagboom PE, Yang J, Chu AY, Lambert AJ, Uitterlinden AG, Franco OH, Hofer E, Ginsburg D, Hu B, Keating B, Schick UM, Brody JA, Li JZ, Chen Z, Zeller T, Guralnik JM, Chasman DI, Peters LL, Kubo M, Becker DM, Li J, Eiriksdottir G, Rotter JI, Levy D, Grossmann V, Patel KV, Chen CH; BioBank Japan Project; Ridker PM, Tang H, Launer LJ, Rice KM, Li-Gao R, Ferrucci L, Evans MK, Choudhuri A, Trompouki E, Abraham BJ, Yang S, Takahashi A, Kamatani Y, Kooperberg C, Harris TB, Jee SH, Coresh J, Tsai FJ, Longo DL, Chen YT, Felix JF, Yang Q, Psaty BM, Boerwinkle E, Becker LC, Mook-Kanamori DO, Wilson JG, Gudnason V, O'Donnell CJ, Dehghan A, Cupples LA, Nalls MA, Morris AP, Okada Y, Reiner AP, Zon LI, Ganesh SK. van Rooij FJA, et al. Among authors: li jz, li j, li gao r, zon li. Am J Hum Genet. 2017 Jan 5;100(1):51-63. doi: 10.1016/j.ajhg.2016.11.016. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017375 Free PMC article.
546 results