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Page 1
Novel mRNA isoforms and mutations of uridine monophosphate synthetase and 5-fluorouracil resistance in colorectal cancer.
Griffith M, Mwenifumbo JC, Cheung PY, Paul JE, Pugh TJ, Tang MJ, Chittaranjan S, Morin RD, Asano JK, Ally AA, Miao L, Lee A, Chan SY, Taylor G, Severson T, Hou YC, Griffith OL, Cheng GS, Novik K, Moore R, Luk M, Owen D, Brown CJ, Morin GB, Gill S, Tai IT, Marra MA. Griffith M, et al. Among authors: mwenifumbo jc. Pharmacogenomics J. 2013 Apr;13(2):148-58. doi: 10.1038/tpj.2011.65. Epub 2012 Jan 17. Pharmacogenomics J. 2013. PMID: 22249354
Alternative expression analysis by RNA sequencing.
Griffith M, Griffith OL, Mwenifumbo J, Goya R, Morrissy AS, Morin RD, Corbett R, Tang MJ, Hou YC, Pugh TJ, Robertson G, Chittaranjan S, Ally A, Asano JK, Chan SY, Li HI, McDonald H, Teague K, Zhao Y, Zeng T, Delaney A, Hirst M, Morin GB, Jones SJ, Tai IT, Marra MA. Griffith M, et al. Nat Methods. 2010 Oct;7(10):843-7. doi: 10.1038/nmeth.1503. Epub 2010 Sep 12. Nat Methods. 2010. PMID: 20835245
Cancer genome-sequencing study design.
Mwenifumbo JC, Marra MA. Mwenifumbo JC, et al. Nat Rev Genet. 2013 May;14(5):321-32. doi: 10.1038/nrg3445. Nat Rev Genet. 2013. PMID: 23594910 Review.
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Zahir FR, Mwenifumbo JC, Chun HE, Lim EL, Van Karnebeek CDM, Couse M, Mungall KL, Lee L, Makela N, Armstrong L, Boerkoel CF, Langlois SL, McGillivray BM, Jones SJM, Friedman JM, Marra MA. Zahir FR, et al. Among authors: mwenifumbo jc. BMC Genomics. 2017 May 24;18(1):403. doi: 10.1186/s12864-017-3671-0. BMC Genomics. 2017. PMID: 28539120 Free PMC article.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Lehman A, et al. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC article.
Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.
29 results