Suppiej, Agnese

Top Publications

Top Publications Authored or Co-Authored by "Suppiej, Agnese"

• 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
• Expanding CEP290 mutational spectrumin ciliopathies

  American Journal of Medical Genetics, Part A, Volume 149, No. 10, Year 2009, Citations 42
• Deciphering the natural history of SCA7 in children

  European Journal of Neurology, Volume 27, No. 11, Year 2020, Citations 34