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Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.
Avenarius MR, Miller CR, Arnold MA, Koo S, Roberts R, Hobby M, Grossman T, Moyer Y, Wilson RK, Mardis ER, Gastier-Foster JM, Pfau RB. Avenarius MR, et al. J Mol Diagn. 2020 Oct;22(10):1238-1245. doi: 10.1016/j.jmoldx.2020.07.004. Epub 2020 Aug 1. J Mol Diagn. 2020. PMID: 32745614 Free PMC article.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: avenarius mr. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Grxcr2 is required for stereocilia morphogenesis in the cochlea.
Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC. Avenarius MR, et al. PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone.0201713. eCollection 2018. PLoS One. 2018. PMID: 30157177 Free PMC article.
27 results