Miriam Iannicelli

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

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

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki et al. · Nature Genetics · 2012 · 188 citations

Mendelian Disorder, Joubert Syndrome, Genetic Disorder +8

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Francesco Brancati, Paola Fortugno, Irene Bottillo et al. · The American Journal of Human Genetics · 2010 · 120 citations · Full text

Developmental Biology, Genetic Disorder, Pathogenesis +6

<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini et al. · Human Mutation · 2008 · 105 citations · Full text

Joubert Syndrome, Liver Involvement, Genetics +17

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee et al. · Science · 2012 · 98 citations

Biology, Developmental Biology, Functional Genomics +15