Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.
Radojevic B et al.
Ophthalmic Genetics, 2021
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.
Afshar F et al.
Eye (london, England), 2020
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
29202463 (PubMed )
Supplement: jci-128-95161-s001.pdf
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
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_-_Main_File.pdf
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