Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone et al. · The American Journal of Human Genetics · 2001 · 348 citations · Full text

Genetic Disorder, Oral Cavity, Genetics +5

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

Maria Immacolata Ferrante, Alessandro Zullo, Adriano Barra et al. · Nature Genetics · 2005 · 343 citations

Signal Transduction, Left-right Axis Specification, Pathogenesis +10

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

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

Joseph G. Gleeson, Lesley C. Keeler, Melissa A. Parisi et al. · American Journal of Medical Genetics Part A · 2003 · 240 citations

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9