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Items: 2

1.

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.

Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20.

PMID:
30788592
2.

Transcriptomic Analysis of Octanoic Acid Response in Drosophila sechellia Using RNA-Sequencing.

Lanno SM, Gregory SM, Shimshak SJ, Alverson MK, Chiu K, Feil AL, Findley MG, Forman TE, Gordon JT, Ho J, Krupp JL, Lam I, Lane J, Linde SC, Morse AE, Rusk S, Ryan R, Saniee A, Sheth RB, Siranosian JJ, Sirichantaropart L, Sternlieb SR, Zaccardi CM, Coolon JD.

G3 (Bethesda). 2017 Dec 4;7(12):3867-3873. doi: 10.1534/g3.117.300297.

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