Pascual-Castroviejo, Ignacio

Top Publications

Top Publications Authored or Co-Authored by "Pascual-Castroviejo, Ignacio"

• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

  Nature Genetics, Volume 44, No. 2, Year 2012, Citations 169
• 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
• RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

  Clinical Genetics, Volume 74, No. 2, Year 2008, Citations 64