Juliana Maria Ferraz Sallum

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 142 citations

Life Sciences, Genetics, Molecular Genetics +8

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Laura Whelan et al. · Genetics in Medicine · 2020 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Daniel C. Chung, Mette Bertelsen, Birgit Lorenz et al. · American Journal of Ophthalmology · 2018 · 133 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

Robert K. Koenekoop, Ruifang Sui, Juliana Maria Ferraz Sallum et al. · The Lancet · 2014 · 102 citations

Medicine, Genetics, Ophthalmology +16

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy et al. · Nature Communications · 2015 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17