F. Barbet

发表

Detection and genetic characterization of Seoul Virus from commensal brown rats in France

J. Lachuer, P. Marianneau, D. Marston, 2014, Virology Journal.

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A. Munnich, S. Hanein, J. Dufier, 2006, Advances in experimental medicine and biology.

Molecular characterization of the AMPA-receptor potentiator S70340 in rat primary cortical culture: Whole-genome expression profiling

L. Danober, D. Caignard, P. Lestage, 2011, Neuroscience Research.

Alterations of the RRAS and ERCC1 Genes at 19q13 in Gemistocytic Astrocytomas

P. Kleihues, H. Ohgaki, J. Lachuer, 2014, Journal of neuropathology and experimental neurology.

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

A. Munnich, S. Hanein, I. Perrault, 2002, Human mutation.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

A. Munnich, S. Hanein, H. Dollfus, 2004, American journal of human genetics.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

A. Munnich, S. Hanein, T. Homfray, 2001, European Journal of Human Genetics.

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

A. Munnich, S. Hanein, J. Dufier, 2003, European Journal of Human Genetics.

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A. Munnich, S. Hanein, J. Zlotogora, 2002, Ophthalmic genetics.

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

A. Munnich, S. Hanein, J. Dufier, 2003, Journal of medical genetics.

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

A. Munnich, S. Hanein, E. Souied, 2001, Investigative ophthalmology & visual science.

A third locus for dominant optic atrophy on chromosome 22q

A. Munnich, C. Orssaud, S. Hanein, 2005, Journal of Medical Genetics.

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype

A. Munnich, S. Hanein, J. Dufier, 2005, Human mutation.

Next-generation sequencing of ultra-low copy samples : From clinical FFPE samples to single-cell sequencing

J. Lachuer, M. Pépin, P. Mavingui, 2013 .