Sara D. Ragi

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Mythily Ganapathi, Amanda Thomas‐Wilson, Christie M. Buchovecky et al. · Scientific Reports · 2022 · 27 citations · Full text

Compound heterozygous novel frameshift variants in the <i>PROM1</i> gene result in Leber congenital amaurosis

Sara D. Ragi, José Ronaldo Lima de Carvalho, Akemi Tanaka et al. · Molecular Case Studies · 2019 · 17 citations · Full text

Ophthalmic Fluorescein Angiography

Divin O. Baddam, Sara D. Ragi, Stephen H. Tsang et al. · Methods in molecular biology · 2022 · 15 citations

Ocular Disease, Experimental Ophthalmology, Ophthalmology +3

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi et al. · Orphanet Journal of Rare Diseases · 2020 · 13 citations · Full text

Long-term vitamin A supplementation in a preclinical mouse model for<i>RhoD190N</i>-associated retinitis pigmentosa

Xuan Cui, Hye Jin Kim, Chia-Hua Cheng et al. · Human Molecular Genetics · 2022 · 12 citations · Full text