Associated Papers
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
40877827 (PubMed )
Supplement: 12920_2025_2186_MOESM3_ESM.pdf
Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.
Zhai Y et al.
American Journal of Medical Genetics. Part A, 2024
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L et al.
Ophthalmic Genetics, 2022
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD et al.
Ophthalmic Genetics, 2021
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