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Bennett, Richard, Hal Schneider, Elicia Estrella, Stephanie Burgess, Andrew Cheng, Caitlin Barrett, Va Lip, et al. 2009. “Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes.”. BMC Genet 10: 66.

Laing, Nigel, Danielle Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, et al. 2009. “Mutations and Polymorphisms of the Skeletal Muscle Alpha-Actin Gene (ACTA1).”. Hum Mutat 30 (9): 1267-77.

Gazda, Hanna, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O’Donohue, Hal Schneider, Natasha Darras, et al. 2008. “Ribosomal Protein L5 and L11 Mutations Are Associated With Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients.”. Am J Hum Genet 83 (6): 769-80.

Buj-Bello, Anna, Françoise Fougerousse, Yannick Schwab, Nadia Messaddeq, Danièle Spehner, Christopher Pierson, Muriel Durand, et al. 2008. “AAV-Mediated Intramuscular Delivery of Myotubularin Corrects the Myotubular Myopathy Phenotype in Targeted Murine Muscle and Suggests a Function in Plasma Membrane Homeostasis.”. Hum Mol Genet 17 (14): 2132-43.

Eisenberg, Iris, Alal Eran, Ichizo Nishino, Maurizio Moggio, Costanza Lamperti, Anthony Amato, Hart Lidov, et al. 2007. “Distinctive Patterns of MicroRNA Expression in Primary Muscular Disorders.”. Proc Natl Acad Sci U S A 104 (43): 17016-21.

Agrawal, Pankaj, Rebecca Greenleaf, Kinga Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel Laing, et al. 2007. “Nemaline Myopathy With Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2.”. Am J Hum Genet 80 (1): 162-7.

Moghadaszadeh, Behzad, and Alan Beggs. 2006. “Selenoproteins and Their Impact on Human Health through Diverse Physiological Pathways.”. Physiology (Bethesda) 21: 307-15.

Gazda, Hanna, Alvin Kho, Despina Sanoudou, Jan Zaucha, Isaac Kohane, Colin Sieff, and Alan Beggs. 2006. “Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond-Blackfan Anemia.”. Stem Cells 24 (9): 2034-44.

Splawski, Igor, Katherine Timothy, Niels Decher, Pradeep Kumar, Frank Sachse, Alan Beggs, Michael Sanguinetti, and Mark Keating. 2005. “Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations.”. Proc Natl Acad Sci U S A 102 (23): 8089-96; discussion 8086.

Sanoudou, Despina, Leslie Frieden, Judith Haslett, Alvin Kho, Steven Greenberg, Isaac Kohane, Louis Kunkel, and Alan Beggs. 2004. “Molecular Classification of Nemaline Myopathies: ‘nontyping’ Specimens Exhibit Unique Patterns of Gene Expression.”. Neurobiol Dis 15 (3): 590-600.