Isabelle Perrault

Isabelle Perrault publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Isabelle Perrault sits on this spectrum.

Isabelle Perrault D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Isabelle Perrault sits on this spectrum.

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