Riazuddin, Saima

Top Publications

Top Publications Authored or Co-Authored by "Riazuddin, Saima"

• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

  Nature Genetics, Volume 40, No. 11, Year 2008, Citations 74
• Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 50
• Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

  European Journal of Human Genetics, Volume 28, No. 11, Year 2020, Citations 30
• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

  American Journal of Human Genetics, Volume 108, No. 10, Year 2021, Citations 10