Jean‐Louis Dufier

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

Histopathologic risk factors in retinoblastoma: A retrospective study of 172 patients treated in a single institution

Fatima Khelfaoui, Pierre Validire, Anne Aupérin et al. · Cancer · 1996 · 236 citations

Medicine, Oncology, Ophthalmology +17

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

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Jean‐Michel Rozet, S. Gerber, Eric H. Souied et al. · European Journal of Human Genetics · 1998 · 169 citations

Medicine, Genetics, Molecular Genetics +10