Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J et al.
Genes, 2017
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Gaier ED et al.
Molecular Vision, 2017
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
Santarelli R et al.
Brain : a Journal of Neurology, 2015
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
Mandler JM et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical, 0
39072298 (PubMed )
Supplement: sj-docx-1-mso-10.1177_20552173241263491.docx
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