Ben-Zeev, Bruria

Top Publications

Top Publications Authored or Co-Authored by "Ben-Zeev, Bruria"

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement

  Human Mutation, Volume 30, No. 2, Year 2009, Citations 94
• 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