Mojarrad, Majid

Top Publications

Top Publications Authored or Co-Authored by "Mojarrad, Majid"

• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

  Brain, Volume 143, No. 8, Year 2020, Citations 79
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69
• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

  Human Genetics, Volume 135, No. 8, Year 2016, Citations 31