Elpeleg, Orly N.

Top Publications

Top Publications Authored or Co-Authored by "Elpeleg, Orly N."

• Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 81
• Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

  American Journal of Human Genetics, Volume 100, No. 4, Year 2017, Citations 67
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 24
• Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

  Genetics in Medicine, Volume 22, No. 10, Year 2020, Citations 22
• Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

  Journal of Medical Genetics, Volume 60, No. 8, Year 2023, Citations 14