Concepedia
Statistics
Publications
56
Citations
4.5K
H-Index
36
Active since
1996
Affiliations
Inserm(Current)
Hôpital Necker-Enfants Malades
Université Paris Cité
Hôpital des Enfants
Délégation Paris 5
Isabelle Perrault is an author at Inserm specializing in medicine, genetics, and molecular genetics.
Top concepts
MedicineGeneticsMolecular GeneticsOphthalmologyPathologyClinical GeneticsDevelopmental BiologyGene ExpressionMolecular BiologyLeber Hereditary Optic Neuropathy
Publications per year
1996–2020
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 443 citations
Ocular Disease, Retina, Mendelian Disorder +5
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 · 348 citations
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
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 · 214 citations · Full text
Mainzer-saldino Syndrome, Mendelian Disorder, Genetic Disorder +5
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
Ocular Disease, Retina, Ophthalmology +5
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