Associated Papers
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Doucette LP et al.
European Journal of Human Genetics : Ejhg, 2021
33776059 (PubMed )
Supplement: 41431_2021_872_MOESM1_ESM.xlsx › Sheet1
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
31500643 (PubMed )
Supplement: 13023_2019_1187_MOESM1_ESM.pdf
Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.
Zhou ZD et al.
Molecular Neurobiology, 2017
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL et al.
Human Genetics, 2017
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
Chen Y et al.
Molecular Vision, 2013
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Select a paper to view details