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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar, Mark, Daniel Navarro-Gomez, Emily Place, Kinga Bujakowska, Maria Sousa, Zoë Fonseca-Kelly, Daniel Taub, et al. 2015. “Panel-Based Genetic Diagnostic Testing for Inherited Eye Diseases Is Highly Accurate and Reproducible, and More Sensitive for Variant Detection, Than Exome Sequencing.”. Genet Med 17 (4): 253-61.

Retinoblastoma.

Rodriguez-Galindo, Carlos, Darren Orbach, and Deborah Vanderveen. 2015. “Retinoblastoma.”. Pediatr Clin North Am 62 (1): 201-23.