Dominique Ducroq

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

Sylvain Hanein, Isabelle Perrault, S. Gerber et al. · Human Mutation · 2004 · 349 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Sylvain Hanein, S. Gerber et al. · The American Journal of Human Genetics · 2004 · 185 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

S. Gerber, Isabelle Perrault, Sylvain Hanein et al. · European Journal of Human Genetics · 2001 · 156 citations

Life Sciences, Genetics, Molecular Genetics +11

Leber Congenital Amaurosis

Isabelle Perrault, Jean‐Michel Rozet, S. Gerber et al. · Molecular Genetics and Metabolism · 1999 · 150 citations

Spectrum of retGC1 mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, S. Gerber et al. · European Journal of Human Genetics · 2000 · 110 citations

Life Sciences, Genetics, Molecular Genetics +14