Delettre, Cécile

Top Publications

Top Publications Authored or Co-Authored by "Delettre, Cécile"

• 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
• Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

  Journal of Clinical Investigation, Volume 130, No. 1, Year 2020, Citations 39
• Homozygous deletion related to alu repeats in RLBP1 causes retinitis punctata albescens

  Investigative Ophthalmology and Visual Science, Volume 47, No. 11, Year 2006, Citations 38
• Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

  Cell Death Discovery, Volume 2, No. 1, Article 16017, Year 2016, Citations 28