Ollagnon-Roman, Elisabeth

Top Publications

Top Publications Authored or Co-Authored by "Ollagnon-Roman, Elisabeth"

• Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

  Nature Genetics, Volume 37, No. 9, Year 2005, Citations 247
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

  Human Mutation, Volume 32, No. 10, Year 2011, Citations 85
• Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

  American Journal of Human Genetics, Volume 60, No. 5, Year 1997, Citations 20