Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

by Robert A. Sisk, Robert B. Hufnagel, Ailee Laham, Elizabeth S. Wohler, Nara Sobreira, Zubair M. Ahmed
Published 2018-01-01

Pathogenicity Reclasssification of <i>RPE65</i> Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

by Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum
Published 2019-12-01