Borgatti, Renato

Top Publications

Top Publications Authored or Co-Authored by "Borgatti, Renato"

• Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

  eLife, Volume 4, No. MAY, Article e06602, Year 2015, Citations 105
• 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
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

  Proceedings of the National Academy of Sciences of the United States of America, Volume 114, No. 44, Year 2017, Citations 67