Associated Papers
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M et al.
Cells, 2022
35455940 (PubMed )
Supplement: cells-11-01260-s001.zip › cells-1604531-supplementary.pdf
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.
Seo Y et al.
Frontiers in Neurology, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N et al.
Brain Communications, 2021
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