Vulliamy, Tom J.

Top Publications

Top Publications Authored or Co-Authored by "Vulliamy, Tom J."

• Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

  Human Molecular Genetics, Volume 16, No. 13, Year 2007, Citations 322
• X-linked dyskeratosis congenita is predominatly caused by missense mutations in the DKC1 gene

  American Journal of Human Genetics, Volume 65, No. 1, Year 1999, Citations 259
• Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-

  Proceedings of the National Academy of Sciences of the United States of America, Volume 88, No. 19, Year 1991, Citations 82
• Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita

  Nature Genetics, Volume 51, No. 10, Year 2019, Citations 78
• Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in al-ain district, united arab emirates

  Human Heredity, Volume 46, No. 3, Year 1996, Citations 59