Associated Papers
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020
32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D et al.
Ophthalmic Genetics, 2019
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Carrigan M et al.
The British Journal of Ophthalmology, 2016
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C et al.
Plos One, 2016
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