Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K et al.
Ophthalmic Genetics, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35579903 (PubMed )
Supplement: iovs-63-5-19_s003.xlsx › Sheet1
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S3_AD
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
Latasiewicz M et al.
Ophthalmic Genetics, 2017
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
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM et al.
Ophthalmology, 2016
26872967 (PubMed )
Supplement: mmc8.pdf
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J et al.
Journal of Medical Genetics, 2012
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