Romani, Marta

Top Publications

Top Publications Authored or Co-Authored by "Romani, Marta"

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

  eLife, Volume 4, No. MAY, Article e06602, Year 2015, Citations 105
• 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