Ghayoor-Karimiani, Ehsan

Top Publications

Top Publications Authored or Co-Authored by "Ghayoor-Karimiani, Ehsan"

• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58
• Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

  European Journal of Neurology, Volume 27, No. 2, Year 2020, Citations 38
• TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

  American Journal of Medical Genetics, Part A, Volume 188, No. 9, Year 2022, Citations 22
• Mutations in TAF8 cause a neurodegenerative disorder

  Brain, Volume 145, No. 9, Year 2022, Citations 21
• PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy

  Annals of Clinical and Translational Neurology, Year 2022, Citations 18