Associated Papers
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
39676705 (PubMed )
Supplement: MGG3-12-e70046-s001.xlsx › Supplementary_Table_3
PENTOSAN POLYSULFATE SODIUM (ELMIRON) MACULOPATHY: A Genetic Perspective.
Kalaw FGP et al.
Retina (philadelphia, Pa.), 2023
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Kannabiran C
Ophthalmic Genetics, 2020
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X et al.
Molecular Vision, 2019
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
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