Micalizzi, Alessia

Top Publications

Top Publications Authored or Co-Authored by "Micalizzi, Alessia"

• 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
• Mutations in B9D1 and MKS1 cause mild Joubert syndrome: Expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 72, Year 2014, Citations 59
• Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

  Journal of Medical Genetics, Volume 53, No. 9, Year 2016, Citations 53
• Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

  American Journal of Human Genetics, Volume 101, No. 4, Year 2017, Citations 40
• Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

  European Journal of Human Genetics, Volume 24, No. 9, Year 2016, Citations 35