Concepedia

Fabienne Barbet

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Statistics

Publications

10

Citations

940

H-Index

10

Active since

2001

Affiliations

Hôpital Necker-Enfants Malades(Current)

Inserm

Hôpital des Enfants

Hôpitaux Universitaires de Strasbourg

Turku University Hospital

Fabienne Barbet is an author at Hôpital Necker-Enfants Malades specializing in genetics, human genetics, and molecular genetics.

Publications per year

2001–2014

10

Publications

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

, , +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

, , +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

, , +11

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

Fabienne Barbet, S. Gerber, Sélim Hakiki et al. · European Journal of Human Genetics · 2003 · 52 citations

, , +11

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

Jean‐Michel Rozet, Isabelle Perrault, S. Gerber et al. · PubMed · 2001 · 51 citations

, , +15

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