Author

Bin Guan

Institutions: National Institutes of Health, National Eye Institute

Observed institutions: National Institutes of Health, National Eye Institute

ORCID: 0000-0001-5986-5189

Observed ORCID: 0000-0001-5986-5189

OpenAlex ID: A5126923656

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

2026 · Alba Sanchis-Juan, Yulia Mostovoy, et al. · medRxiv · 1

In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa

2026 · Annette Kaminaka, Tao Liu, et al. · npj Biomedical Innovations.

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos

2026 · Gabrielle M. Rozumek, Michelle L. Brinkmeier, et al. · JCI Insight

P701: Delineating a case of retinal degeneration and hearing loss in the era of genome sequencing

2026 · Amelia Naik, Ehsan Ullah, et al. · Genetics in Medicine Open

Works count: 4

Citation count: 1

H-index: 1

I10-index: