Associated Papers
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
Biswas P et al.
Plos One, 2024
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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