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Genes|April 30, 2021
<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic NeuropathySylvie Gerber, Christophe Orssaud, Josseline Kaplan, et al.Brain : a Journal of Neurology|April 18, 2023
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigmGuy Lenaers, Cléis Beaulieu, Majida Charif, et al.Retinal Cases & Brief Reports|May 26, 2017
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROMEJennyfer Zerbib, Rocio Blanco Garavito, Sylvie Gerber, et al.Ophthalmic Genetics|February 5, 2003
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisSylvie Gerber, Isabelle Perrault, Sylvain Hanein, et al.European Journal of Medical Genetics|February 14, 2016
Incomplete penetrance of biallelic ALDH1A3 mutationsJulie Plaisancié, Dominique Brémond-Gignac, Bénédicte Demeer, et al.American Journal of Human Genetics|August 24, 2004
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.Human Mutation|November 15, 2007
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type IISylvie Gerber, Sylvain Hanein, Isabelle Perrault, et al.Human Mutation|January 12, 2005
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotypeIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.European Journal of Human Genetics : EJHG|September 26, 2003
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8qFabienne Barbet, Sylvie Gerber, Sélim Hakiki, et al.Human Mutation|March 9, 2007
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Nathalie Delphin, Sylvain Hanein, et al.Pageof 4