Pramathan, Thachillath

Top Publications

Top Publications Authored or Co-Authored by "Pramathan, Thachillath"

• Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 143
• Centromeric inactivation in a dicentric human Y;21 translocation chromosome

  Chromosoma, Volume 106, No. 4, Year 1997, Citations 37
• Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

  American Journal of Medical Genetics, Part A, Volume 170, No. 1, Year 2016, Citations 15
• A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

  Orphanet Journal of Rare Diseases, Volume 11, No. 1, Article 139, Year 2016, Citations 8