de Silva, Deepthi C.

Top Publications

Top Publications Authored or Co-Authored by "de Silva, Deepthi C."

• Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 93
• Mutations in ANTXR1 cause GAPO syndrome

  American Journal of Human Genetics, Volume 92, No. 5, Year 2013, Citations 73
• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67
• FGFR1 mutations cause hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

  Journal of Medical Genetics, Volume 50, No. 9, Year 2013, Citations 66
• Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

  Human Mutation, Volume 34, No. 4, Year 2013, Citations 39