Dehghani, Mohammadreza Reza

Top Publications

Top Publications Authored or Co-Authored by "Dehghani, Mohammadreza Reza"

• 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
• Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 67
• Testis development in the absence of SRY: Chromosomal rearrangements at SOX9 and SOX3

  European Journal of Human Genetics, Volume 23, No. 8, Year 2015, Citations 60
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57
• Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

  American Journal of Human Genetics, Volume 108, No. 6, Year 2021, Citations 46