Annick Cabot

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

A. Munnich, E. Souied, J. Dufier, 1999, Journal of medical genetics.

Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations

A. Munnich, E. Souied, G. Soubrane, 1999 .

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

A. Smahi, A. Munnich, E. Souied, 1999, American journal of human genetics.

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, American journal of human genetics.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

V. Drouin‐Garraud, H. Dollfus, C. Baumann, 2012, European Journal of Human Genetics.

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

A. Munnich, D. Hunt, E. Souied, 1998, American journal of human genetics.