Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Zampaglione, Erin, Benyam Kinde, Emily Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, et al. 2020. “Copy-Number Variation Contributes 9% of Pathogenicity in the Inherited Retinal Degenerations”. Genet Med 22 (6): 1079-87.