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Neurobiology of Disease|October 24, 2003
Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degenerationEric M Dufour, Emeline Nandrot, Dominique Marchant, 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.
European Journal of Human Genetics : EJHG|August 9, 2007
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked exampleSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
BMC Medical Genetics|December 1, 2006
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case reportGuillaume de la Houssaye, Ivan Bieche, Olivier Roche, et al.
Human Mutation|September 14, 2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counselingValérie Pelletier, Marguerite Jambou, Nathalie Delphin, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Molecular Vision|December 15, 2006
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndromeVeronique Vieira, Gabriel David, Olivier Roche, et al.
BMC Medical Genetics|May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
American Journal of Human Genetics|March 31, 2009
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophySylvain Hanein, Isabelle Perrault, Olivier Roche, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
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