Tournev, Ivailo L.

Top Publications

Top Publications Authored or Co-Authored by "Tournev, Ivailo L."

• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89
• LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

  European Journal of Human Genetics, Volume 19, No. 3, Year 2011, Citations 63
• Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease

  Orphanet Journal of Rare Diseases, Volume 13, No. 1, Article 155, Year 2018, Citations 39