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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.

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.

Kurugol, Sila, Jennifer Dy, Milind Rajadhyaksha, Kirk Gossage, Jesse Weissmann, and Dana Brooks. 2011. “Semi-Automated Algorithm for Localization of Dermal/Epidermal Junction in Reflectance Confocal Microscopy Images of Human Skin”. In SPIE BiOS, 79041A–79041A. International Society for Optics and Photonics.

Kurugol, Sila, Milind Rajadhyaksha, Jennifer Dy, and Dana Brooks. 2012. “Validation Study of Automated Dermal/Epidermal Junction Localization Algorithm in Reflectance Confocal Microscopy Images of Skin”. In SPIE BiOS, 820702–820702. International Society for Optics and Photonics.

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.

Brownstein, Catherine, Meghan Towne, Lovelace Luquette, David Harris, Nicholas Marinakis, Peter Meinecke, Kerstin Kutsche, et al. 2013. “Mutation of KCNJ8 in a Patient With Cantú Syndrome With Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition.”. Eur J Med Genet 56 (12): 678-82.

Ockeloen, Gilhuis, Pfundt, Kamsteeg, PB Agrawal, AH Beggs, Dara Hama-Amin, et al. 2012. “Congenital Myopathy Caused by a Novel Missense Mutation in the CFL2 Gene.”. Neuromuscul Disord 22 (7): 632-9.

Agrawal, Pankaj, Mugdha Joshi, Talia Savic, Zoe Chen, and Alan Beggs. 2012. “Normal Myofibrillar Development Followed by Progressive Sarcomeric Disruption With Actin Accumulations in a Mouse Cfl2 Knockout Demonstrates Requirement of Cofilin-2 for Muscle Maintenance.”. Hum Mol Genet 21 (10): 2341-56.