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Ceyhan-Birsoy, Ozge, Pankaj Agrawal, Carlos Hidalgo, Klaus Schmitz-Abe, Elizabeth Dechene, Lindsay Swanson, Rachel Soemedi, et al. 2013. “Recessive Truncating Titin Gene, TTN, Mutations Presenting As Centronuclear Myopathy.”. Neurology 81 (14): 1205-14.

Snead, Taylor, Kooij, Cosford, AH Beggs, and Shelton. 2015. “Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies.”. J Vet Intern Med 29 (1): 254-60.

Agrawal, Pankaj, Mugdha Joshi, Nicholas Marinakis, Klaus Schmitz-Abe, Pedro Ciarlini, Jane Sargent, Kyriacos Markianos, Umberto De Girolami, David Chad, and Alan Beggs. 2014. “Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings.”. JAMA Neurol 71 (11): 1413-20.

Yuen, Michaela, Sarah Sandaradura, James Dowling, Alla Kostyukova, Natalia Moroz, Kate Quinlan, Vilma-Lotta Lehtokari, et al. 2014. “Leiomodin-3 Dysfunction Results in Thin Filament Disorganization and Nemaline Myopathy.”. J Clin Invest 124 (11): 4693-708.

Ludwig, Leif, Hanna Gazda, Jennifer Eng, Stephen Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy George, et al. 2014. “Altered Translation of GATA1 in Diamond-Blackfan Anemia.”. Nat Med 20 (7): 748-53.

Lawlor, Michael, Marissa Viola, Hui Meng, Rachel Edelstein, Fujun Liu, Ke Yan, Elizabeth Luna, et al. 2014. “Differential Muscle Hypertrophy Is Associated With Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 P.R69C Mice.”. Am J Pathol 184 (6): 1831-42.

Gupta, Vandana, Genri Kawahara, Jennifer Myers, Aye Chen, Thomas Hall, Chiara Manzini, Peter Currie, et al. 2012. “A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish.”. PLoS One 7 (8): e43794.

Sankaran, Vijay, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan Beggs, Colin Sieff, et al. 2012. “Exome Sequencing Identifies GATA1 Mutations Resulting in Diamond-Blackfan Anemia.”. J Clin Invest 122 (7): 2439-43.

Smith, Laura, Vandana Gupta, and Alan Beggs. 2014. “Bridging Integrator 1 (Bin1) Deficiency in Zebrafish Results in Centronuclear Myopathy.”. Hum Mol Genet.

Smith, Laura, Alan Beggs, and Vandana Gupta. 2013. “Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-Evoke Escape Response Assays.”. J Vis Exp, no. 82: e50925.