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

Jean‐Michel Rozet, S. Gerber, Imad Ghazi et al. · Journal of Medical Genetics · 1999 · 97 citations

Medicine, Genetics, Ophthalmology +17

A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

Annick Cabot, Jean‐Michel Rozet, S. Gerber et al. · The American Journal of Human Genetics · 1999 · 95 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the <i>GSN</i> gene

Nathalie Chastan, Stéphanie Baert‐Desurmont, Pascale Saugier-Véber et al. · Muscle & Nerve · 2005 · 50 citations

Life Sciences, Genetics, Neurology +10

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

Nathalie Le Meur, Cosette Martin, Pascale Saugier-Véber et al. · European Journal of Human Genetics · 2004 · 47 citations

Life Sciences, Genetics, Molecular Genetics +9

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

Sandy Léger, X. Balguérie, Alice Goldenberg et al. · European Journal of Human Genetics · 2012 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11