Reynier, Pascal

Top Publications

Top Publications Authored or Co-Authored by "Reynier, Pascal"

• Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

  Nature Genetics, Volume 49, No. 7, Year 2017, Citations 114
• A common variant near TGFBR3 is associated with primary open angle glaucoma

  Human Molecular Genetics, Volume 24, No. 13, Year 2015, Citations 111
• 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
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56