Rozet, Jean Michel

Top Publications

Top Publications Authored or Co-Authored by "Rozet, Jean Michel"

• Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

  American Journal of Human Genetics, Volume 90, No. 5, Year 2012, Citations 180
• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42
• Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

  PLoS ONE, Volume 8, No. 1, Article e51622, Year 2013, Citations 35