Sudhakar, Sniya Valsa

Top Publications

Top Publications Authored or Co-Authored by "Sudhakar, Sniya Valsa"

• Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

  Human Molecular Genetics, Volume 32, No. 4, Year 2023, Citations 38
• Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

  Journal of Medical Genetics, Volume 60, No. 8, Year 2023, Citations 14
• Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

  American Journal of Neuroradiology, Volume 43, No. 10, Year 2022, Citations 11
• A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

  Genetics in Medicine, Volume 24, No. 10, Year 2022, Citations 1
• Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

  American Journal of Neuroradiology, Volume 44, No. 10, Year 2023