Charif, Majida

Top Publications

Top Publications Authored or Co-Authored by "Charif, Majida"

• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 53