Al-Tawari, Asma A.

Top Publications

Top Publications Authored or Co-Authored by "Al-Tawari, Asma A."

• Mutations in the AHI1 gene, encoding Jouberin, cause Jeubert syndrome with cortical polymicrogyria

  American Journal of Human Genetics, Volume 75, No. 6, Year 2004, Citations 279
• 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
• Distinguishing the four genetic causes of Jouberts syndrome-related disorders

  Annals of Neurology, Volume 57, No. 4, Year 2005, Citations 102
• 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