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Lehtokari, Vilma-Lotta, Kirsi Kiiski, Sarah Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer Frey, Kati Donner, et al. 2014. “Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies.”. Hum Mutat 35 (12): 1418-26.

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.

Bacon, Phoebe, Erin Harris, Sonja Ziniel, Sarah Savage, Elissa Weitzman, Robert Green, Noelle Huntington, and Ingrid Holm. 2015. “The Development of a Preference-Setting Model for the Return of Individual Genomic Research Results.”. J Empir Res Hum Res Ethics 10 (2): 107-20.

Yu, Timothy, and Elizabeth Berry-Kravis. 2014. “Autism and Fragile X Syndrome.”. Semin Neurol 34 (3): 258-65.

Chahrour, Maria, Timothy Yu, Elaine Lim, Bulent Ataman, Michael Coulter, Sean Hill, Christine Stevens, et al. 2012. “Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism.”. PLoS Genet 8 (4): e1002635.

Klei, Lambertus, Stephan Sanders, Michael Murtha, Vanessa Hus, Jennifer Lowe, Jeremy Willsey, Daniel Moreno-De-Luca, et al. 2012. “Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism.”. Mol Autism 3 (1): 9.

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.

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.