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Agrawal, Pankaj, Christopher Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, et al. 2014. “SPEG Interacts With Myotubularin, and Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy.”. Am J Hum Genet 95 (2): 218-26.

Gupta, Vandana, and Alan Beggs. 2014. “Kelch Proteins: Emerging Roles in Skeletal Muscle Development and Diseases.”. Skelet Muscle 4: 11.

Marttila, Minttu, Vilma-Lotta Lehtokari, Steven Marston, Tuula Nyman, Christine Barnerias, Alan Beggs, Enrico Bertini, et al. 2014. “Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.”. Hum Mutat 35 (7): 779-90.

Gupta, Vandana, Gianina Ravenscroft, Ranad Shaheen, Emily Todd, Lindsay Swanson, Masaaki Shiina, Kazuhiro Ogata, et al. 2013. “Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.”. Am J Hum Genet 93 (6): 1108-17.

Gazda, Hanna, Milena Preti, Mee Rie Sheen, Marie-Françoise O’Donohue, Adrianna Vlachos, Stella Davies, Antonis Kattamis, et al. 2012. “Frameshift Mutation in P53 Regulator RPL26 Is Associated With Multiple Physical Abnormalities and a Specific Pre-Ribosomal RNA Processing Defect in Diamond-Blackfan Anemia.”. Hum Mutat 33 (7): 1037-44.

Payne, Elspeth, Niccolò Bolli, Jennifer Rhodes, Omar Abdel-Wahab, Ross Levine, Cyrus Hedvat, Richard Stone, et al. 2011. “Ddx18 Is Essential for Cell-Cycle Progression in Zebrafish Hematopoietic Cells and Is Mutated in Human AML.”. Blood 118 (4): 903-15.

Boria, Ilenia, Emanuela Garelli, Hanna Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, et al. 2010. “The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update.”. Hum Mutat 31 (12): 1269-79.

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.