Spaccini, Luigina

Top Publications

Top Publications Authored or Co-Authored by "Spaccini, Luigina"

• 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
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• 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
• Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

  Nature Genetics, Volume 49, No. 3, Year 2017, Citations 66