Traboulsi, Elias I.

Top Publications

Top Publications Authored or Co-Authored by "Traboulsi, Elias I."

• Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

  Science, Volume 304, No. 5676, Year 2004, Citations 364
• BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

  Human Mutation, Volume 32, No. 6, Year 2011, Citations 104
• Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

  Journal of Medical Genetics, Volume 47, No. 7, Year 2010, Citations 83
• Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

  Investigative Ophthalmology and Visual Science, Volume 45, No. 7, Year 2004, Citations 79
• Ocular pathology in congenital heart disease

  Eye, Volume 19, No. 1, Year 2005, Citations 68