Associated Papers
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Farooqui SZ et al.
Ophthalmic Genetics, 2025
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y et al.
The Journal of Biological Chemistry, 2015
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK et al.
Nature Genetics, 2012
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW et al.
Nature Genetics, 2012
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