Najafi, Maryam

Top Publications

Top Publications Authored or Co-Authored by "Najafi, Maryam"

• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

  Brain, Volume 142, No. 10, Year 2019, Citations 94
• Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

  Brain, Volume 144, No. 3, Year 2021, Citations 56
• Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

  American Journal of Human Genetics, Volume 105, No. 5, Year 2019, Citations 43
• Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

  Human Mutation, Volume 40, No. 3, Year 2019, Citations 34