Associated Papers
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.
Hiraoka M et al.
Ophthalmic Genetics, 2020
Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.
Wang DD et al.
Investigative Ophthalmology & Visual Science, 2020
32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1
Genetic testing for inherited ocular conditions in a developing country.
Zanolli M et al.
Ophthalmic Genetics, 2020
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
Fujinami K et al.
Ophthalmology, 2019
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
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