Travaglini, Lorena

Top Publications

Top Publications Authored or Co-Authored by "Travaglini, Lorena"

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

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 247
• 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