Jean-Michel Rozet

Overview

Best Publications

• Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

  Francis Rousseau;Jacky Bonaventure;Laurence Legeai-Mallet;Anna Pelet

  1305
  Citations

• 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

• X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

  P. Saugier-Veber;A. Munnich;D. Bonneau;J.-M. Rozet

  432
  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

• 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

• A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

  Josseline Kaplan;Sylvie Gerber;Dominique Larget-Piet;Jean-Michel Rozet

  223
  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

• A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

  J. Kaplan;S. Gerber;D. Bonneau;J.M. Rozet

  199
  Citations

• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

  Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  184
  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

• Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

  Valérie Pelletier;Marguerite Jambou;Nathalie Delphin;Elena Zinovieva

  170
  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

• Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

  Sylvie Gerber;Kamil J. Alzayady;Lydie Burglen;Dominique Brémond-Gignac

  147
  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

• 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