Munier, Francis L.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 350

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

Marmorstein, L. Y., Munier, F. L., Arsenijevic, Y., Schorderet, D. F., McLaughlin, P. J., Chung, D., Traboulsi, E., & Marmorstein, A. D. (2002) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsRetinal Development and Disorders

Cited by 230

Therapeutic targeting of the RB1 pathway in retinoblastoma with the oncolytic adenovirus VCN-01

Pascual-Pasto, G., Bazan-Peregrino, M., Olaciregui, N. G., Restrepo-Perdomo, C. A., Mato-Berciano, A., Ottaviani, D., Weber, K., Correa, G., Paco, S., Vila-Ubach, M., et al. (2019) · Science Translational Medicine

Virus-based gene therapy researchOcular Oncology and Treatments

Cited by 118

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Lechner, J., Porter, L. F., Rice, A., Vitart, V., Armstrong, D. J., Schorderet, D. F., Munier, F. L., Wright, A. F., Inglehearn, C. F., Black, G. C., et al. (2014) · Human Molecular Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 72

Retinal Structure in RPE65-Associated Retinal Dystrophy

Kumaran, N., Georgiou, M., Bainbridge, J. W. B., Bertelsen, M., Larsen, M., Blanco-Kelly, F., Ayuso, C., Tran, H. V., Munier, F. L., Kalitzeos, A., et al. (2020) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 44

Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma

Opial, D., Boehnke, M., Tadesse, S., Lietz-Partzsch, A., Flammer, J., Munier, F., Mermoud, A., Hirano, M., Flückiger, F., & Mojon, D. S. (2001) · Graefe's Archive for Clinical and Experimental Ophthalmology

Glaucoma and retinal disordersMitochondrial Function and Pathology

Cited by 32