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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.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Cottrell CE, et al. Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. Epub 2021 May 26. Genet Med. 2021. PMID: 34040190 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.
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.
Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Miller KE, et al. Among authors: avenarius mr. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29434027 Free PMC article.
28 results