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Page 1
Generating Mutant Renal Cell Lines Using CRISPR Technologies.
Perretta-Tejedor N, Freke G, Seda M, Long DA, Jenkins D. Perretta-Tejedor N, et al. Methods Mol Biol. 2020;2067:323-340. doi: 10.1007/978-1-4939-9841-8_20. Methods Mol Biol. 2020. PMID: 31701460 Free PMC article.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. Munye MM, et al. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28301481 Free PMC article.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535