Isabelle Perrault

Overview

Best Publications

• Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

  Perrault I;Rozet Jm;Calvas P;Gerber S

  534
  Citations

• 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;Sylvie Gerber;Gaëlle Tanguy

  465
  Citations

• Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

  Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber

  313
  Citations

• Leber Congenital Amaurosis

  Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi

  274
  Citations

• Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

  Rosemary E. Kelsell;Kevin Gregory-Evans;Annette M. Payne;Isabelle Perrault

  267
  Citations

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

  Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet

  256
  Citations

• Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

  Jean-Michel Rozet;Sylvie Gerber;Eric Souied;Isabelle Perrault

  230
  Citations

• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

  Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  217
  Citations

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

  Sylvie Gerber;Isabelle Perrault;Sylvain Hanein;Fabienne Barbet

  206
  Citations

• Prevalence of AIPL1 mutations in inherited retinal degenerative disease

  Melanie M. Sohocki;Isabelle Perrault;Bart P. Leroy;Bart P. Leroy;Annette M. Payne

  204
  Citations

• Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

  Jana Zernant;Maigi Külm;Sharola Dharmaraj;Anneke I den Hollander

  189
  Citations

• AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

  Xavier Gerard;Isabelle Perrault;Sylvain Hanein;Eduardo Silva

  182
  Citations

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

  Isabelle Perrault;Jean-Michel Rozet;Imad Ghazi;Corinne Leowski

  161
  Citations

• Spectrum of retGC1 mutations in Leber's congenital amaurosis.

  Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi

  160
  Citations

• Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

  Isabelle Perrault;Sylvain Hanein;Xavier Zanlonghi;Valérie Serre

  145
  Citations

• 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-Michet Rozet;Sylvie Gerber;Imad Ghazi;Isabelle Perrault

  134
  Citations

• A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

  Sophie Thomas;Sophie Thomas;Kevin J. Wright;Stéphanie Le Corre;Alessia Micalizzi;Alessia Micalizzi

  132
  Citations

• The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations

  Sharola Dharmaraj;Bart P. Leroy;Bart P. Leroy;Melanie M. Sohocki;Robert K. Koenekoop

  129
  Citations

• TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

  Sylvain Hanein;Isabelle Perrault;Olivier Roche;Sylvie Gerber

  127
  Citations

• Spectrum of NPHP6 (CEP290) Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype

  I. Perrault;N. Delphin;S. Hanein;S. Gerber

  0
  Citations