Isabelle Perrault

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 447 citations

Life Sciences, Genetics, Molecular Genetics +10

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

Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne et al. · Human Molecular Genetics · 1998 · 232 citations

Medicine, Genetics, Molecular Genetics +13

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

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