Arnold Munnich

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

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Gilles Courtois, Asma Smahi, Janine Reichenbach et al. · Journal of Clinical Investigation · 2003 · 375 citations · Full text

Life Sciences, Genetics, Immunology +15

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

Diversity of <i>RET</i> proto-oncogene mutations in familial and sporadic Hirschsprung disease

Tania Attié‐Bitach, Anna Pelet, Patrick Edery et al. · Human Molecular Genetics · 1995 · 317 citations

Life Sciences, Genetics, Molecular Genetics +17

The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

Eric H. Souied, Pascale Benlian, Philippe Amouyel et al. · American Journal of Ophthalmology · 1998 · 294 citations

Medicine, Genetics, Ophthalmology +16