Associated Papers
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
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
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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